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Berchuck, Andrew

Overview:

Dr. Andrew Berchuck is Director of the Duke Division of Gynecologic Oncology and holds the James M. Ingram Distinguished Professorship. He is a practicing oncologist who is actively involved in the surgical and chemotherapy management of women with ovarian, endometrial and lower genital tract cancers. This includes minimally invasive laparoscopic surgical approaches. He also has developed a research program that focuses on the molecular-genetic alterations involved in malignant transformation of the ovarian and endometrial epithelium. He has published over 300 peer-reviewed papers in these areas. The objectives of his research include 1) identification of ovarian cancer susceptibility polymorphisms through a population-based case-control molecular epidemiologic study, and 2) use of genomic approaches  to elucidate the molecular heterogenetity of ovarian cancer. Thirty fellows and residents have worked in his lab, several of whom are now funded investigators. His research efforts have been recognized nationally and he has received awards for best oral presentation at the annual meetings of both the Society of Gynecologic Oncology and the International Gynecologic Cancer Society. Dr. Berchuck was awarded the Barbara Thomason Ovarian Cancer Research Professorship by the American Cancer Society in 2006. He has served as editor of several books in the field including Principles and Practice of Gynecologic Oncology. Dr. Berchuck also has a major commitment to national activities, and was President of the Society of Gynecologic Oncology in 2008. He served as chair of the scientific advisory committee of the Ovarian Cancer Research Fund (http://www.ocrf.org) in New York City. Finally, he is also head of the steering committee of the international Ovarian Cancer Association Consortium (OCAC), a group of 50 case-control studies that are working together to identify ovarian cancer susceptibility polymorphisms (www.srl.cam.ac.uk/consortia/ocac/index.html).

Positions:

James M. Ingram Professor of Gynecologic Oncology

Obstetrics and Gynecology, Gynecologic Oncology
School of Medicine

Professor of Obstetrics and Gynecology

Obstetrics and Gynecology, Gynecologic Oncology
School of Medicine

Chief of Gynecologic Oncology

Obstetrics and Gynecology, Gynecologic Oncology
School of Medicine

Member of the Duke Cancer Institute

Duke Cancer Institute
School of Medicine

Education:

M.D. 1980

M.D. — Case Western Reserve University

News:

Grants:

Mutation analysis of pap smear samples and associated tissues for ovarian cancer diagnostics

Administered By
Pathology
AwardedBy
Genendeavor LLC
Role
Collaborator
Start Date
October 12, 2017
End Date
October 11, 2022

Building Interdisciplinary Research Careers in Women's Health

Administered By
Obstetrics and Gynecology
AwardedBy
National Institutes of Health
Role
Mentor
Start Date
September 26, 2002
End Date
July 31, 2022

Translational Research in Surgical Oncology

Administered By
Surgery, Surgical Sciences
AwardedBy
National Institutes of Health
Role
Mentor
Start Date
January 01, 2002
End Date
August 31, 2021

Discovery of Novel Rare Variants as Ovarian Cancer Susceptibility Factors

Administered By
Obstetrics and Gynecology, Gynecologic Oncology
AwardedBy
MD Anderson Cancer Center
Role
Principal Investigator
Start Date
August 01, 2016
End Date
July 31, 2020

Immune modulation of CaMKK2 in the ovarian tumor microenvironment

Administered By
Obstetrics and Gynecology, Gynecologic Oncology
AwardedBy
American Association of Obstetricians and Gynecologists Foundation
Role
Mentor
Start Date
July 01, 2019
End Date
June 30, 2020

Kastan Gray Foundation Project

Administered By
Duke Cancer Institute
AwardedBy
Gray Foundation
Role
Researcher
Start Date
October 01, 2017
End Date
September 30, 2019

Janet Burros Ovarian Cancer Repository

Administered By
Obstetrics and Gynecology, Gynecologic Oncology
AwardedBy
Cancer Data Initiative
Role
Principal Investigator
Start Date
July 01, 2018
End Date
June 30, 2019

Triggering human anti-tumor stringent response to target recurrent ovarian cancer

Administered By
Molecular Genetics and Microbiology
AwardedBy
Department of Defense
Role
Co Investigator
Start Date
May 01, 2017
End Date
April 30, 2019

Tissue and Data Acquisition Activity for the Study of Gynecologic Disease

Administered By
Obstetrics and Gynecology, Gynecologic Oncology
AwardedBy
Henry M. Jackson Foundation
Role
Collaborator
Start Date
August 19, 2016
End Date
February 28, 2019

Tissue and Data Acquisition Activity for the Study of Gynecologic Disease

Administered By
Obstetrics and Gynecology, Gynecologic Oncology
AwardedBy
Henry M. Jackson Foundation
Role
Collaborator
Start Date
August 19, 2016
End Date
May 31, 2017

Discovery of Novel Rare Variants as Ovarian Cancer Susceptibility Factors

Administered By
Obstetrics and Gynecology, Gynecologic Oncology
AwardedBy
MD Anderson Cancer Center
Role
Principal Investigator
Start Date
August 01, 2015
End Date
July 31, 2016

Clinical Oncology Research Career Development Program

Administered By
Surgery, Surgical Sciences
AwardedBy
National Institutes of Health
Role
Mentor
Start Date
September 29, 2009
End Date
July 31, 2015

Endometrial Cancer TCGA Project

Administered By
Obstetrics and Gynecology, Gynecologic Oncology
AwardedBy
National Institutes of Health
Role
Principal Investigator
Start Date
May 20, 2010
End Date
March 31, 2015

Epidemiology of Ovarian Cancer in African-American Women

Administered By
Duke Cancer Institute
AwardedBy
National Institutes of Health
Role
Co Investigator
Start Date
June 01, 2010
End Date
February 28, 2015

TGCA Purchase Order

Administered By
Obstetrics and Gynecology, Gynecologic Oncology
AwardedBy
Leidos Biomedical Research, Inc.
Role
Principal Investigator
Start Date
October 30, 2014
End Date
November 12, 2014

Gene Regulation in Recurrent Ovarian Cancers

Administered By
Obstetrics and Gynecology, Gynecologic Oncology
AwardedBy
Gynecologic Cancer Foundation
Role
Co Investigator
Start Date
December 01, 2011
End Date
June 30, 2014

The Molecular Epidemiology Of Ovarian Cancer

Administered By
Duke Cancer Institute
AwardedBy
National Institutes of Health
Role
Co-Principal Investigator
Start Date
September 01, 1998
End Date
June 30, 2012

Tissue and Data Acquisition Activity for the Study of Gynecologic Disease

Administered By
Obstetrics and Gynecology, Gynecologic Oncology
AwardedBy
United States Army Medical Research and Materiel Command
Role
Co Investigator
Start Date
November 01, 2010
End Date
May 31, 2011

Society of Gynecologic Investigation Annual Meeting

Administered By
Obstetrics and Gynecology
AwardedBy
National Institutes of Health
Role
Principal Investigator
Start Date
March 24, 2004
End Date
March 23, 2009

Genomics Tests for Ovarian Cancer Detection and Management

Administered By
Institutes and Centers
AwardedBy
Agency for Healthcare Research and Quality
Role
Investigator
Start Date
September 30, 2005
End Date
November 30, 2006

(CGN Supplement): CGN Ovarian Cancer Screening in High Risk Women Pilot 2

Administered By
Duke Cancer Institute
AwardedBy
National Institutes of Health
Role
Collaborator
Start Date
August 01, 2001
End Date
July 31, 2003

Spore In Breast Cancer

Administered By
Surgery
AwardedBy
National Institutes of Health
Role
Co-Principal Investigator
Start Date
September 30, 1995
End Date
August 31, 1998

Spore In Breast Cancer

Administered By
Surgery
AwardedBy
National Institutes of Health
Role
Co-Principal Investigator
Start Date
September 30, 1995
End Date
August 31, 1998

Spore In Breast Cancer

Administered By
Surgery
AwardedBy
National Institutes of Health
Role
Co-Principal Investigator
Start Date
September 30, 1995
End Date
August 31, 1998

Molecular Epidemiolgy Of Epithelial Ovarian Cancer

Administered By
Community and Family Medicine
AwardedBy
National Institutes of Health
Role
Co-Principal Investigator
Start Date
June 17, 1994
End Date
May 31, 1997

Growth Regulation & Transformation Of Ovarian Cancer Epith

Administered By
Obstetrics and Gynecology, Gynecologic Oncology
AwardedBy
National Institutes of Health
Role
Principal Investigator
Start Date
February 01, 1994
End Date
January 31, 1997

Growth Regulation And Transformation Of Ovarian Epithelium

Administered By
Obstetrics and Gynecology, Gynecologic Oncology
AwardedBy
National Institutes of Health
Role
Principal Investigator
Start Date
February 01, 1992
End Date
January 31, 1997

Molecular Epidemiology Of Epithelial Ovarian Cancer

Administered By
Community and Family Medicine
AwardedBy
National Institutes of Health
Role
Co-Principal Investigator
Start Date
June 17, 1994
End Date
May 31, 1996

Hyperthermia And Perfusion Effects In Cancer Therapy

Administered By
Radiation Oncology
AwardedBy
National Institutes of Health
Role
Co-Principal Investigator
Start Date
June 01, 1993
End Date
May 31, 1995
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Publications:

Histotype classification of ovarian carcinoma: A comparison of approaches.

Major changes in the classification of ovarian carcinoma histotypes occurred over the last two decades, resulting in the current 2014 World Health Organization (WHO) diagnostic criteria that recognize five principal histotypes: high-grade serous, low-grade serous, endometrioid, clear cell, and mucinous carcinoma. We assessed the impact of these guidelines and use of immunohistochemical (IHC) markers on classification of ovarian carcinomas in existing population-based studies.We evaluated histotype classification for 2361 ovarian carcinomas diagnosed between 1999 and 2009 from two case-control studies using three approaches: 1. pre-2014 WHO ("historic") histotype; 2. Standardized review of pathology slides using the 2014 WHO criteria alone; and 3. An integrated IHC assessment along with the 2014 WHO criteria. We used Kappa statistics to assess agreement between approaches, and Kaplan-Meier survival curves and Cox proportional hazards models to evaluate mortality.Compared to the standardized pathologic review histotype, agreement across approaches was high (kappa = 0.892 for historic, and 0.849 for IHC integrated histotype), but the IHC integrated histotype identified more low-grade serous carcinomas and a subset of endometrioid carcinomas that were assigned as high-grade serous (n = 25). No substantial differences in histotype-specific mortality were observed across approaches.Our findings suggest that histotype assignment is fairly consistent regardless of classification approach, but that progressive improvements in classification accuracy for some less common histotypes are achieved with pathologic review using the 2014 WHO criteria and with IHC integration. We additionally recommend a classification scheme to fit historic data into the 2014 WHO categories to answer histotype-specific research questions.

Authors
Peres, LC; Cushing-Haugen, KL; Anglesio, M; Wicklund, K; Bentley, R; Berchuck, A; Kelemen, LE; Nazeran, TM; Gilks, CB; Harris, HR; Huntsman, DG; Schildkraut, JM; Rossing, MA; Köbel, M; Doherty, JA
MLA Citation
Peres, LC, Cushing-Haugen, KL, Anglesio, M, Wicklund, K, Bentley, R, Berchuck, A, Kelemen, LE, Nazeran, TM, Gilks, CB, Harris, HR, Huntsman, DG, Schildkraut, JM, Rossing, MA, Köbel, M, and Doherty, JA. "Histotype classification of ovarian carcinoma: A comparison of approaches." Gynecologic Oncology 151.1 (October 2018): 53-60.
PMID
30121132
Source
epmc
Published In
Gynecologic Oncology
Volume
151
Issue
1
Publish Date
2018
Start Page
53
End Page
60
DOI
10.1016/j.ygyno.2018.08.016

A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk.

Large-scale genome-wide association studies (GWAS) have identified approximately 35 loci associated with epithelial ovarian cancer (EOC) risk. The majority of GWAS-identified disease susceptibility variants are located in noncoding regions, and causal genes underlying these associations remain largely unknown. Here, we performed a transcriptome-wide association study to search for novel genetic loci and plausible causal genes at known GWAS loci. We used RNA sequencing data (68 normal ovarian tissue samples from 68 individuals and 6,124 cross-tissue samples from 369 individuals) and high-density genotyping data from European descendants of the Genotype-Tissue Expression (GTEx V6) project to build ovarian and cross-tissue models of genetically regulated expression using elastic net methods. We evaluated 17,121 genes for their cis-predicted gene expression in relation to EOC risk using summary statistics data from GWAS of 97,898 women, including 29,396 EOC cases. With a Bonferroni-corrected significance level of P < 2.2 × 10-6, we identified 35 genes, including FZD4 at 11q14.2 (Z = 5.08, P = 3.83 × 10-7, the cross-tissue model; 1 Mb away from any GWAS-identified EOC risk variant), a potential novel locus for EOC risk. All other 34 significantly associated genes were located within 1 Mb of known GWAS-identified loci, including 23 genes at 6 loci not previously linked to EOC risk. Upon conditioning on nearby known EOC GWAS-identified variants, the associations for 31 genes disappeared and three genes remained (P < 1.47 × 10-3). These data identify one novel locus (FZD4) and 34 genes at 13 known EOC risk loci associated with EOC risk, providing new insights into EOC carcinogenesis.Significance: Transcriptomic analysis of a large cohort confirms earlier GWAS loci and reveals FZD4 as a novel locus associated with EOC risk. Cancer Res; 78(18); 5419-30. ©2018 AACR.

Authors
Lu, Y; Beeghly-Fadiel, A; Wu, L; Guo, X; Li, B; Schildkraut, JM; Im, HK; Chen, YA; Permuth, JB; Reid, BM; Teer, JK; Moysich, KB; Andrulis, IL; Anton-Culver, H; Arun, BK; Bandera, EV; Barkardottir, RB; Barnes, DR; Benitez, J; Bjorge, L; Brenton, J; Butzow, R; Caldes, T; Caligo, MA; Campbell, I; Chang-Claude, J; Claes, KBM; Couch, FJ; Cramer, DW; Daly, MB; deFazio, A; Dennis, J; Diez, O; Domchek, SM; Dörk, T; Easton, DF; Eccles, DM; Fasching, PA; Fortner, RT; Fountzilas, G; Friedman, E; Ganz, PA; Garber, J; Giles, GG; Godwin, AK; Goldgar, DE; Goodman, MT; Greene, MH; Gronwald, J; Hamann, U; Heitz, F; Hildebrandt, MAT; Høgdall, CK; Hollestelle, A; Hulick, PJ; Huntsman, DG; Imyanitov, EN; Isaacs, C; Jakubowska, A; James, P; Karlan, BY; Kelemen, LE; Kiemeney, LA; Kjaer, SK; Kwong, A; Le, ND; Leslie, G; Lesueur, F; Levine, DA; Mattiello, A; May, T; McGuffog, L; McNeish, IA; Merritt, MA; Modugno, F; Montagna, M; Neuhausen, SL; Nevanlinna, H; Nielsen, FC; Nikitina-Zake, L; Nussbaum, RL; Offit, K; Olah, E; Olopade, OI; Olson, SH; Olsson, H; Osorio, A; Park, SK; Parsons, MT; Peeters, PHM; Pejovic, T; Peterlongo, P; Phelan, CM; Pujana, MA; Ramus, SJ; Rennert, G; Risch, H; Rodriguez, GC; Rodríguez-Antona, C; Romieu, I; Rookus, MA; Rossing, MA; Rzepecka, IK; Sandler, DP; Schmutzler, RK; Setiawan, VW; Sharma, P; Sieh, W; Simard, J; Singer, CF; Song, H; Southey, MC; Spurdle, AB; Sutphen, R; Swerdlow, AJ; Teixeira, MR; Teo, SH; Thomassen, M; Tischkowitz, M; Toland, AE; Trichopoulou, A; Tung, N; Tworoger, SS; van Rensburg, EJ; Vanderstichele, A; Vega, A; Edwards, DV; Webb, PM; Weitzel, JN; Wentzensen, N; White, E; Wolk, A; Wu, AH; Yannoukakos, D; Zorn, KK; Gayther, SA; Antoniou, AC; Berchuck, A; Goode, EL; Chenevix-Trench, G; Sellers, TA; Pharoah, PDP; Zheng, W; Long, J
MLA Citation
Lu, Y, Beeghly-Fadiel, A, Wu, L, Guo, X, Li, B, Schildkraut, JM, Im, HK, Chen, YA, Permuth, JB, Reid, BM, Teer, JK, Moysich, KB, Andrulis, IL, Anton-Culver, H, Arun, BK, Bandera, EV, Barkardottir, RB, Barnes, DR, Benitez, J, Bjorge, L, Brenton, J, Butzow, R, Caldes, T, Caligo, MA, Campbell, I, Chang-Claude, J, Claes, KBM, Couch, FJ, Cramer, DW, Daly, MB, deFazio, A, Dennis, J, Diez, O, Domchek, SM, Dörk, T, Easton, DF, Eccles, DM, Fasching, PA, Fortner, RT, Fountzilas, G, Friedman, E, Ganz, PA, Garber, J, Giles, GG, Godwin, AK, Goldgar, DE, Goodman, MT, Greene, MH, Gronwald, J, Hamann, U, Heitz, F, Hildebrandt, MAT, Høgdall, CK, Hollestelle, A, Hulick, PJ, Huntsman, DG, Imyanitov, EN, Isaacs, C, Jakubowska, A, James, P, Karlan, BY, Kelemen, LE, Kiemeney, LA, Kjaer, SK, Kwong, A, Le, ND, Leslie, G, Lesueur, F, Levine, DA, Mattiello, A, May, T, McGuffog, L, McNeish, IA, Merritt, MA, Modugno, F, Montagna, M, Neuhausen, SL, Nevanlinna, H, Nielsen, FC, Nikitina-Zake, L, Nussbaum, RL, Offit, K, Olah, E, Olopade, OI, Olson, SH, Olsson, H, Osorio, A, Park, SK, Parsons, MT, Peeters, PHM, Pejovic, T, Peterlongo, P, Phelan, CM, Pujana, MA, Ramus, SJ, Rennert, G, Risch, H, Rodriguez, GC, Rodríguez-Antona, C, Romieu, I, Rookus, MA, Rossing, MA, Rzepecka, IK, Sandler, DP, Schmutzler, RK, Setiawan, VW, Sharma, P, Sieh, W, Simard, J, Singer, CF, Song, H, Southey, MC, Spurdle, AB, Sutphen, R, Swerdlow, AJ, Teixeira, MR, Teo, SH, Thomassen, M, Tischkowitz, M, Toland, AE, Trichopoulou, A, Tung, N, Tworoger, SS, van Rensburg, EJ, Vanderstichele, A, Vega, A, Edwards, DV, Webb, PM, Weitzel, JN, Wentzensen, N, White, E, Wolk, A, Wu, AH, Yannoukakos, D, Zorn, KK, Gayther, SA, Antoniou, AC, Berchuck, A, Goode, EL, Chenevix-Trench, G, Sellers, TA, Pharoah, PDP, Zheng, W, and Long, J. "A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk." Cancer Research 78.18 (September 2018): 5419-5430.
PMID
30054336
Source
epmc
Published In
Cancer Research
Volume
78
Issue
18
Publish Date
2018
Start Page
5419
End Page
5430
DOI
10.1158/0008-5472.can-18-0951

rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology.

Thymidylate synthase (TYMS) is a crucial enzyme for DNA synthesis. TYMS expression is regulated by its antisense mRNA, ENOSF1. Disrupted regulation may promote uncontrolled DNA synthesis and tumor growth. We sought to replicate our previously reported association between rs495139 in the TYMS-ENOSF1 3' gene region and increased risk of mucinous ovarian carcinoma (MOC) in an independent sample. Genotypes from 24,351 controls to 15,000 women with invasive OC, including 665 MOC, were available. We estimated per-allele odds ratios (OR) and 95% confidence intervals (CI) using unconditional logistic regression, and meta-analysis when combining these data with our previous report. The association between rs495139 and MOC was not significant in the independent sample (OR = 1.09; 95% CI = 0.97⁻1.22; p = 0.15; N = 665 cases). Meta-analysis suggested a weak association (OR = 1.13; 95% CI = 1.03⁻1.24; p = 0.01; N = 1019 cases). No significant association with risk of other OC histologic types was observed (p = 0.05 for tumor heterogeneity). In expression quantitative trait locus (eQTL) analysis, the rs495139 allele was positively associated with ENOSF1 mRNA expression in normal tissues of the gastrointestinal system, particularly esophageal mucosa (r = 0.51, p = 1.7 × 10-28), and nonsignificantly in five MOC tumors. The association results, along with inconclusive tumor eQTL findings, suggest that a true effect of rs495139 might be small.

Authors
Kelemen, LE; Earp, M; Fridley, BL; Chenevix-Trench, G; Australian Ovarian Cancer Study Group, ; Fasching, PA; Beckmann, MW; Ekici, AB; Hein, A; Lambrechts, D; Lambrechts, S; Van Nieuwenhuysen, E; Vergote, I; Rossing, MA; Doherty, JA; Chang-Claude, J; Behrens, S; Moysich, KB; Cannioto, R; Lele, S; Odunsi, K; Goodman, MT; Shvetsov, YB; Thompson, PJ; Wilkens, LR; Dörk, T; Antonenkova, N; Bogdanova, N; Hillemanns, P; Runnebaum, IB; du Bois, A; Harter, P; Heitz, F; Schwaab, I; Butzow, R; Pelttari, LM; Nevanlinna, H; Modugno, F; Edwards, RP; Kelley, JL; Ness, RB; Karlan, BY; Lester, J; Orsulic, S; Walsh, C; Kjaer, SK; Jensen, A; Cunningham, JM; Vierkant, RA; Giles, GG; Bruinsma, F; Southey, MC; Hildebrandt, MAT; Liang, D; Lu, K; Wu, X; Sellers, TA; Levine, DA; Schildkraut, JM; Iversen, ES; Terry, KL; Cramer, DW; Tworoger, SS; Poole, EM; Bandera, EV; Olson, SH; Orlow, I; Vestrheim Thomsen, LC; Bjorge, L; Krakstad, C; Tangen, IL; Kiemeney, LA; Aben, KKH; Massuger, LFAG; van Altena, AM; Pejovic, T; Bean, Y; Kellar, M; Cook, LS; Le, ND; Brooks-Wilson, A; Gronwald, J; Cybulski, C; Jakubowska, A; Lubiński, J; Wentzensen, N; Brinton, LA; Lissowska, J; Hogdall, E; Engelholm, SA; Hogdall, C; Lundvall, L; Nedergaard, L; Pharoah, PDP; Dicks, E; Song, H; Tyrer, JP; McNeish, I; Siddiqui, N; Carty, K; Glasspool, R; Paul, J; Campbell, IG; Eccles, D; Whittemore, AS; McGuire, V; Rothstein, JH; Sieh, W; Narod, SA; Phelan, CM; McLaughlin, JR; Risch, HA; Anton-Culver, H; Ziogas, A; Menon, U; Gayther, SA; Gentry-Maharaj, A; Ramus, SJ; Wu, AH; Pearce, CL; Lee, AW; Pike, MC; Kupryjanczyk, J; Podgorska, A; Plisiecka-Halasa, J; Sawicki, W; Goode, EL; Berchuck, A; Ovarian Cancer Association Consortium,
MLA Citation
Kelemen, LE, Earp, M, Fridley, BL, Chenevix-Trench, G, Australian Ovarian Cancer Study Group, , Fasching, PA, Beckmann, MW, Ekici, AB, Hein, A, Lambrechts, D, Lambrechts, S, Van Nieuwenhuysen, E, Vergote, I, Rossing, MA, Doherty, JA, Chang-Claude, J, Behrens, S, Moysich, KB, Cannioto, R, Lele, S, Odunsi, K, Goodman, MT, Shvetsov, YB, Thompson, PJ, Wilkens, LR, Dörk, T, Antonenkova, N, Bogdanova, N, Hillemanns, P, Runnebaum, IB, du Bois, A, Harter, P, Heitz, F, Schwaab, I, Butzow, R, Pelttari, LM, Nevanlinna, H, Modugno, F, Edwards, RP, Kelley, JL, Ness, RB, Karlan, BY, Lester, J, Orsulic, S, Walsh, C, Kjaer, SK, Jensen, A, Cunningham, JM, Vierkant, RA, Giles, GG, Bruinsma, F, Southey, MC, Hildebrandt, MAT, Liang, D, Lu, K, Wu, X, Sellers, TA, Levine, DA, Schildkraut, JM, Iversen, ES, Terry, KL, Cramer, DW, Tworoger, SS, Poole, EM, Bandera, EV, Olson, SH, Orlow, I, Vestrheim Thomsen, LC, Bjorge, L, Krakstad, C, Tangen, IL, Kiemeney, LA, Aben, KKH, Massuger, LFAG, van Altena, AM, Pejovic, T, Bean, Y, Kellar, M, Cook, LS, Le, ND, Brooks-Wilson, A, Gronwald, J, Cybulski, C, Jakubowska, A, Lubiński, J, Wentzensen, N, Brinton, LA, Lissowska, J, Hogdall, E, Engelholm, SA, Hogdall, C, Lundvall, L, Nedergaard, L, Pharoah, PDP, Dicks, E, Song, H, Tyrer, JP, McNeish, I, Siddiqui, N, Carty, K, Glasspool, R, Paul, J, Campbell, IG, Eccles, D, Whittemore, AS, McGuire, V, Rothstein, JH, Sieh, W, Narod, SA, Phelan, CM, McLaughlin, JR, Risch, HA, Anton-Culver, H, Ziogas, A, Menon, U, Gayther, SA, Gentry-Maharaj, A, Ramus, SJ, Wu, AH, Pearce, CL, Lee, AW, Pike, MC, Kupryjanczyk, J, Podgorska, A, Plisiecka-Halasa, J, Sawicki, W, Goode, EL, Berchuck, A, and Ovarian Cancer Association Consortium, . "rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology." International Journal of Molecular Sciences 19.9 (August 21, 2018).
PMID
30134598
Source
epmc
Published In
International Journal of Molecular Sciences
Volume
19
Issue
9
Publish Date
2018
DOI
10.3390/ijms19092473

Comprehensive Analysis of Alternative Splicing Across Tumors from 8,705 Patients

© 2018 Elsevier Inc. Our comprehensive analysis of alternative splicing across 32 The Cancer Genome Atlas cancer types from 8,705 patients detects alternative splicing events and tumor variants by reanalyzing RNA and whole-exome sequencing data. Tumors have up to 30% more alternative splicing events than normal samples. Association analysis of somatic variants with alternative splicing events confirmed known trans associations with variants in SF3B1 and U2AF1 and identified additional trans-acting variants (e.g., TADA1, PPP2R1A). Many tumors have thousands of alternative splicing events not detectable in normal samples; on average, we identified ≈930 exon-exon junctions (“neojunctions”) in tumors not typically found in GTEx normals. From Clinical Proteomic Tumor Analysis Consortium data available for breast and ovarian tumor samples, we confirmed ≈1.7 neojunction- and ≈0.6 single nucleotide variant-derived peptides per tumor sample that are also predicted major histocompatibility complex-I binders (“putative neoantigens”). A pan-cancer analysis by Kahles et al. shows increased alternative splicing events in tumors versus normal tissue and identifies trans-acting variants associated with alternative splicing events. Tumors contain neojunction-derived peptides absent in normal samples, including predicted MHC-I binders that are putative neoantigens.

Authors
Kahles, A; Lehmann, KV; Toussaint, NC; Hüser, M; Stark, SG; Sachsenberg, T; Stegle, O; Kohlbacher, O; Sander, C; Caesar-Johnson, SJ; Demchok, JA; Felau, I; Kasapi, M; Ferguson, ML; Hutter, CM; Sofia, HJ; Tarnuzzer, R; Wang, Z; Yang, L; Zenklusen, JC; Zhang, J; Chudamani, S; Liu, J; Lolla, L; Naresh, R; Pihl, T; Sun, Q; Wan, Y; Wu, Y; Cho, J; DeFreitas, T; Frazer, S; Gehlenborg, N; Getz, G; Heiman, DI; Kim, J; Lawrence, MS; Lin, P; Meier, S; Noble, MS; Saksena, G; Voet, D; Zhang, H; Bernard, B; Chambwe, N; Dhankani, V; Knijnenburg, T; Kramer, R; Leinonen, K; Liu, Y; Miller, M; Reynolds, S; Shmulevich, I; Thorsson, V; Zhang, W; Akbani, R; Broom, BM; Hegde, AM; Ju, Z; Kanchi, RS; Korkut, A; Li, J; Liang, H; Ling, S; Liu, W; Lu, Y; Mills, GB; Ng, KS; Rao, A; Ryan, M; Wang, J; Weinstein, JN; Abeshouse, A; Armenia, J; Chakravarty, D; Chatila, WK; de Bruijn, I; Gao, J; Gross, BE; Heins, ZJ; Kundra, R; La, K
MLA Citation
Kahles, A, Lehmann, KV, Toussaint, NC, Hüser, M, Stark, SG, Sachsenberg, T, Stegle, O, Kohlbacher, O, Sander, C, Caesar-Johnson, SJ, Demchok, JA, Felau, I, Kasapi, M, Ferguson, ML, Hutter, CM, Sofia, HJ, Tarnuzzer, R, Wang, Z, Yang, L, Zenklusen, JC, Zhang, J, Chudamani, S, Liu, J, Lolla, L, Naresh, R, Pihl, T, Sun, Q, Wan, Y, Wu, Y, Cho, J, DeFreitas, T, Frazer, S, Gehlenborg, N, Getz, G, Heiman, DI, Kim, J, Lawrence, MS, Lin, P, Meier, S, Noble, MS, Saksena, G, Voet, D, Zhang, H, Bernard, B, Chambwe, N, Dhankani, V, Knijnenburg, T, Kramer, R, Leinonen, K, Liu, Y, Miller, M, Reynolds, S, Shmulevich, I, Thorsson, V, Zhang, W, Akbani, R, Broom, BM, Hegde, AM, Ju, Z, Kanchi, RS, Korkut, A, Li, J, Liang, H, Ling, S, Liu, W, Lu, Y, Mills, GB, Ng, KS, Rao, A, Ryan, M, Wang, J, Weinstein, JN, Abeshouse, A, Armenia, J, Chakravarty, D, Chatila, WK, de Bruijn, I, Gao, J, Gross, BE, Heins, ZJ, Kundra, R, and La, K. "Comprehensive Analysis of Alternative Splicing Across Tumors from 8,705 Patients." Cancer Cell 34.2 (August 13, 2018): 211-224.e6.
Source
scopus
Published In
Cancer Cell
Volume
34
Issue
2
Publish Date
2018
Start Page
211
End Page
224.e6
DOI
10.1016/j.ccell.2018.07.001

Erratum: Comprehensive Characterization of Cancer Driver Genes and Mutations (ARTICLE (2018) 173(2) (371–385), (S009286741830237X), (10.1016/j.cell.2018.02.060))

© 2018 (Cell 173, 371–385.e1–e9; April 5, 2018) It has come to our attention that we made two errors in preparation of this manuscript. First, in the STAR Methods, under the subheading of “Hypermutators and Immune Infiltrates” within the “Quantification and Statistical Analysis” section, we inadvertently referred to Figures S7A–S7C for data corresponding to sample stratification by hypermutator status alone in the last sentence. It should have referred to Figure S6A–S6C. Second, the lists of highly frequent missense mutations for COAD (colon adenocarcinoma) and READ (rectum adenocarcinoma) displayed in Figure S7 were incorrect because when we ordered the mutations in the initial analysis, we mistakenly combined the two cancer types COAD and READ for analysis, despite the fact that they were listed as two separate cancer types in the x-axis of the figure. After re-ordering the mutations by frequency for COAD and READ independently, information on highly frequent missense mutations for each of these cancer types is different and updated now in the revised Figure S7. These errors don't change the major conclusions of the paper and have been corrected online. We apologize for any confusion they may have caused. [Figure-presented]

Authors
Bailey, MH; Tokheim, C; Porta-Pardo, E; Sengupta, S; Bertrand, D; Weerasinghe, A; Colaprico, A; Wendl, MC; Kim, J; Reardon, B; Kwok-Shing Ng, P; Jeong, KJ; Cao, S; Wang, Z; Gao, J; Gao, Q; Wang, F; Liu, EM; Mularoni, L; Rubio-Perez, C; Nagarajan, N; Cortés-Ciriano, I; Zhou, DC; Liang, WW; Hess, JM; Yellapantula, VD; Tamborero, D; Gonzalez-Perez, A; Suphavilai, C; Ko, JY; Khurana, E; Park, PJ; Van Allen, EM; Liang, H; Caesar-Johnson, SJ; Demchok, JA; Felau, I; Kasapi, M; Ferguson, ML; Hutter, CM; Sofia, HJ; Tarnuzzer, R; Yang, L; Zenklusen, JC; Zhang, J; Chudamani, S; Liu, J; Lolla, L; Naresh, R; Pihl, T; Sun, Q; Wan, Y; Wu, Y; Cho, J; DeFreitas, T; Frazer, S; Gehlenborg, N; Getz, G; Heiman, DI; Lawrence, MS; Lin, P; Meier, S; Noble, MS; Saksena, G; Voet, D; Zhang, H; Bernard, B; Chambwe, N; Dhankani, V; Knijnenburg, T; Kramer, R; Leinonen, K; Liu, Y; Miller, M; Reynolds, S; Shmulevich, I; Thorsson, V; Zhang, W; Akbani, R; Broom, BM; Hegde, AM; Ju, Z; Kanchi, RS; Korkut, A; Li, J; Ling, S; Liu, W; Lu, Y; Mills, GB; Ng, KS; Rao, A; Ryan, M; Wang, J; Weinstein, JN; Abeshouse, A; Armenia, J
MLA Citation
Bailey, MH, Tokheim, C, Porta-Pardo, E, Sengupta, S, Bertrand, D, Weerasinghe, A, Colaprico, A, Wendl, MC, Kim, J, Reardon, B, Kwok-Shing Ng, P, Jeong, KJ, Cao, S, Wang, Z, Gao, J, Gao, Q, Wang, F, Liu, EM, Mularoni, L, Rubio-Perez, C, Nagarajan, N, Cortés-Ciriano, I, Zhou, DC, Liang, WW, Hess, JM, Yellapantula, VD, Tamborero, D, Gonzalez-Perez, A, Suphavilai, C, Ko, JY, Khurana, E, Park, PJ, Van Allen, EM, Liang, H, Caesar-Johnson, SJ, Demchok, JA, Felau, I, Kasapi, M, Ferguson, ML, Hutter, CM, Sofia, HJ, Tarnuzzer, R, Yang, L, Zenklusen, JC, Zhang, J, Chudamani, S, Liu, J, Lolla, L, Naresh, R, Pihl, T, Sun, Q, Wan, Y, Wu, Y, Cho, J, DeFreitas, T, Frazer, S, Gehlenborg, N, Getz, G, Heiman, DI, Lawrence, MS, Lin, P, Meier, S, Noble, MS, Saksena, G, Voet, D, Zhang, H, Bernard, B, Chambwe, N, Dhankani, V, Knijnenburg, T, Kramer, R, Leinonen, K, Liu, Y, Miller, M, Reynolds, S, Shmulevich, I, Thorsson, V, Zhang, W, Akbani, R, Broom, BM, Hegde, AM, Ju, Z, Kanchi, RS, Korkut, A, Li, J, Ling, S, Liu, W, Lu, Y, Mills, GB, Ng, KS, Rao, A, Ryan, M, Wang, J, Weinstein, JN, Abeshouse, A, and Armenia, J. "Erratum: Comprehensive Characterization of Cancer Driver Genes and Mutations (ARTICLE (2018) 173(2) (371–385), (S009286741830237X), (10.1016/j.cell.2018.02.060))." Cell 174.4 (August 9, 2018): 1034-1035.
Source
scopus
Published In
Cell
Volume
174
Issue
4
Publish Date
2018
Start Page
1034
End Page
1035
DOI
10.1016/j.cell.2018.07.034

The importance of using public data to validate reported associations.

Authors
Chenevix-Trench, G; Beesley, J; Pharoah, PDP; Berchuck, A
MLA Citation
Chenevix-Trench, G, Beesley, J, Pharoah, PDP, and Berchuck, A. "The importance of using public data to validate reported associations." Plos Genetics 14.6 (June 29, 2018): e1007416-null.
PMID
29958288
Source
epmc
Published In
Plos Genetics
Volume
14
Issue
6
Publish Date
2018
Start Page
e1007416
DOI
10.1371/journal.pgen.1007416

The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma

Authors
Ricketts, CJ; De Cubas, AA; Fan, H; Smith, CC; Lang, M; Reznik, E; Bowlby, R; Gibb, EA; Akbani, R; Beroukhim, R; Bottaro, DP; Choueiri, TK; Gibbs, RA; Godwin, AK; Haake, S; Hakimi, AA; Henske, EP; Hsieh, JJ; Ho, TH; Kanchi, RS; Krishnan, B; Kwiatkowski, DJ; Lui, W; Merino, MJ; Mills, GB; Myers, J; Nickerson, ML; Reuter, VE; Schmidt, LS; Shelley, CS; Shen, H; Shuch, B; Signoretti, S; Srinivasan, R; Tamboli, P; Thomas, G; Vincent, BG; Vocke, CD; Wheeler, DA; Yang, L; Kim, WY; Robertson, AG; Spellman, PT; Rathmell, WK; Linehan, WM; Caesar-Johnson, SJ; Demchok, JA; Felau, I; Kasapi, M; Ferguson, ML; Hutter, CM; Sofia, HJ; Tarnuzzer, R; Wang, Z; Yang, L; Zenklusen, JC; Zhang, JJ; Chudamani, S; Liu, J; Lolla, L; Naresh, R; Pihl, T; Sun, Q; Wan, Y; Wu, Y; Cho, J; DeFreitas, T; Frazer, S; Gehlenborg, N; Getz, G; Heiman, DI; Kim, J; Lawrence, MS; Lin, P; Meier, S; Noble, MS; Saksena, G; Voet, D; Zhang, H; Bernard, B; Chambwe, N; Dhankani, V; Knijnenburg, T; Kramer, R; Leinonen, K; Liu, Y; Miller, M; Reynolds, S; Shmulevich, I; Thorsson, V; Zhang, W; Broom, BM; Hegde, AM; Ju, Z; Korkut, A; Li, J; Liang, H; Ling, S; Liu, W; Lu, Y; Ng, K-S; Rao, A; Ryan, M; Wang, J; Weinstein, JN; Zhang, J; Abeshouse, A; Armenia, J; Chakravarty, D; Chatila, WK; de Bruijn, I; Gao, J; Gross, BE; Heins, ZJ; Kundra, R; La, K; Ladanyi, M; Luna, A; Nissan, MG; Ochoa, A; Phillips, SM; Sanchez-Vega, F; Sander, C; Schultz, N; Sheridan, R; Sumer, SO; Sun, Y; Taylor, BS; Wang, J; Zhang, H; Anur, P; Peto, M; Spellman, P; Benz, C; Stuart, JM; Wong, CK; Yau, C; Hayes, DN; Parker, JS; Wilkerson, MD; Ally, A; Balasundaram, M; Brooks, D; Carlsen, R; Chuah, E; Dhalla, N; Holt, R; Jones, SJM; Kasaian, K; Lee, D; Ma, Y; Marra, MA; Mayo, M; Moore, RA; Mungall, AJ; Mungall, K; Sadeghi, S; Schein, JE; Sipahimalani, P; Tam, A; Thiessen, N; Tse, K; Wong, T; Berger, AC; Cherniack, AD; Cibulskis, C; Gabriel, SB; Gao, GF; Ha, G; Meyerson, M; Schumacher, SE; Shih, J; Kucherlapati, MH; Kucherlapati, RS; Baylin, S; Cope, L; Danilova, L; Bootwalla, MS; Lai, PH; Maglinte, DT; Van Den Berg, DJ; Weisenberger, DJ; Auman, JT; Balu, S; Bodenheimer, T; Fan, C; Hoadley, KA; Hoyle, AP; Jefferys, SR; Jones, CD; Meng, S; Mieczkowski, PA; Mose, LE; Perou, AH; Perou, CM; Roach, J; Shi, Y; Simons, JV; Skelly, T; Soloway, MG; Tan, D; Veluvolu, U; Hinoue, T; Laird, PW; Zhou, W; Bellair, M; Chang, K; Covington, K; Creighton, CJ; Dinh, H; Doddapaneni, H; Donehower, LA; Drummond, J; Glenn, R; Hale, W; Han, Y; Hu, J; Korchina, V; Lee, S; Lewis, L; Li, W; Liu, X; Morgan, M; Morton, D; Muzny, D; Santibanez, J; Sheth, M; Shinbrot, E; Wang, L; Wang, M; Xi, L; Zhao, F; Hess, J; Appelbaum, EL; Bailey, M; Cordes, MG; Ding, L; Fronick, CC; Fulton, LA; Fulton, RS; Kandoth, C; Mardis, ER; McLellan, MD; Miller, CA; Schmidt, HK; Wilson, RK; Crain, D; Curley, E; Gardner, J; Lau, K; Mallery, D; Morris, S; Paulauskis, J; Penny, R; Shelton, C; Shelton, T; Sherman, M; Thompson, E; Yena, P; Bowen, J; Gastier-Foster, JM; Gerken, M; Leraas, KM; Lichtenberg, TM; Ramirez, NC; Wise, L; Zmuda, E; Corcoran, N; Costello, T; Hovens, C; Carvalho, AL; de Carvalho, AC; Fregnani, JH; Longatto-Filho, A; Reis, RM; Scapulatempo-Neto, C; Silveira, HCS; Vidal, DO; Burnette, A; Eschbacher, J; Hermes, B; Noss, A; Singh, R; Anderson, ML; Castro, PD; Ittmann, M; Huntsman, D; Kohl, B; Le, X; Thorp, R; Andry, C; Duffy, ER; Lyadov, V; Paklina, O; Setdikova, G; Shabunin, A; Tavobilov, M; McPherson, C; Warnick, R; Berkowitz, R; Cramer, D; Feltmate, C; Horowitz, N; Kibel, A; Muto, M; Raut, CP; Malykh, A; Barnholtz-Sloan, JS; Barrett, W; Devine, K; Fulop, J; Ostrom, QT; Shimmel, K; Wolinsky, Y; Sloan, AE; De Rose, A; Giuliante, F; Goodman, M; Karlan, BY; Hagedorn, CH; Eckman, J; Harr, J; Tucker, K; Zach, LA; Deyarmin, B; Hu, H; Kvecher, L; Larson, C; Mural, RJ; Somiari, S; Vicha, A; Zelinka, T; Bennett, J; Iacocca, M; Rabeno, B; Swanson, P; Latour, M; Lacombe, L; Têtu, B; Bergeron, A; McGraw, M; Staugaitis, SM; Chabot, J; Hibshoosh, H; Sepulveda, A; Su, T; Wang, T; Potapova, O; Voronina, O; Desjardins, L; Mariani, O; Roman-Roman, S; Sastre, X; Stern, M-H; Cheng, F; Berchuck, A; Bigner, D; Lipp, E; Marks, J; McCall, S; McLendon, R; Secord, A; Sharp, A; Behera, M; Brat, DJ; Chen, A; Delman, K; Force, S; Khuri, F; Magliocca, K; Maithel, S; Olson, JJ; Owonikoko, T; Pickens, A; Ramalingam, S; Shin, DM; Sica, G; Van Meir, EG; Zhang, H; Eijckenboom, W; Gillis, A; Korpershoek, E; Looijenga, L; Oosterhuis, W; Stoop, H; van Kessel, KE; Zwarthoff, EC; Calatozzolo, C; Cuppini, L; Cuzzubbo, S; DiMeco, F; Finocchiaro, G; Mattei, L; Perin, A; Pollo, B; Chen, C; Houck, J; Lohavanichbutr, P; Hartmann, A; Stoehr, C; Stoehr, R; Taubert, H; Wach, S; Wullich, B; Kycler, W; Murawa, D; Wiznerowicz, M; Chung, K; Edenfield, WJ; Martin, J; Baudin, E; Bubley, G; Bueno, R; De Rienzo, A; Richards, WG; Kalkanis, S; Mikkelsen, T; Noushmehr, H; Scarpace, L; Girard, N; Aymerich, M; Campo, E; Giné, E; Guillermo, AL; Van Bang, N; Hanh, PT; Phu, BD; Tang, Y; Colman, H; Evason, K; Dottino, PR; Martignetti, JA; Gabra, H; Juhl, H; Akeredolu, T; Stepa, S; Hoon, D; Ahn, K; Kang, KJ; Beuschlein, F; Breggia, A; Birrer, M; Bell, D; Borad, M; Bryce, AH; Castle, E; Chandan, V; Cheville, J; Copland, JA; Farnell, M; Flotte, T; Giama, N; Ho, T; Kendrick, M; Kocher, J-P; Kopp, K; Moser, C; Nagorney, D; O’Brien, D; O’Neill, BP; Patel, T; Petersen, G; Que, F; Rivera, M; Roberts, L; Smallridge, R; Smyrk, T; Stanton, M; Thompson, RH; Torbenson, M; Yang, JD; Zhang, L; Brimo, F; Ajani, JA; Gonzalez, AMA; Behrens, C; Bondaruk, J; Broaddus, R; Czerniak, B; Esmaeli, B; Fujimoto, J; Gershenwald, J; Guo, C; Lazar, AJ; Logothetis, C; Meric-Bernstam, F; Moran, C; Ramondetta, L; Rice, D; Sood, A; Thompson, T; Troncoso, P; Tsao, A; Wistuba, I; Carter, C; Haydu, L; Hersey, P; Jakrot, V; Kakavand, H; Kefford, R et al.
MLA Citation
Ricketts, CJ, De Cubas, AA, Fan, H, Smith, CC, Lang, M, Reznik, E, Bowlby, R, Gibb, EA, Akbani, R, Beroukhim, R, Bottaro, DP, Choueiri, TK, Gibbs, RA, Godwin, AK, Haake, S, Hakimi, AA, Henske, EP, Hsieh, JJ, Ho, TH, Kanchi, RS, Krishnan, B, Kwiatkowski, DJ, Lui, W, Merino, MJ, Mills, GB, Myers, J, Nickerson, ML, Reuter, VE, Schmidt, LS, Shelley, CS, Shen, H, Shuch, B, Signoretti, S, Srinivasan, R, Tamboli, P, Thomas, G, Vincent, BG, Vocke, CD, Wheeler, DA, Yang, L, Kim, WY, Robertson, AG, Spellman, PT, Rathmell, WK, Linehan, WM, Caesar-Johnson, SJ, Demchok, JA, Felau, I, Kasapi, M, Ferguson, ML, Hutter, CM, Sofia, HJ, Tarnuzzer, R, Wang, Z, Yang, L, Zenklusen, JC, Zhang, JJ, Chudamani, S, Liu, J, Lolla, L, Naresh, R, Pihl, T, Sun, Q, Wan, Y, Wu, Y, Cho, J, DeFreitas, T, Frazer, S, Gehlenborg, N, Getz, G, Heiman, DI, Kim, J, Lawrence, MS, Lin, P, Meier, S, Noble, MS, Saksena, G, Voet, D, Zhang, H, Bernard, B, Chambwe, N, Dhankani, V, Knijnenburg, T, Kramer, R, Leinonen, K, Liu, Y, Miller, M, Reynolds, S, Shmulevich, I, Thorsson, V, Zhang, W, Broom, BM, Hegde, AM, Ju, Z, Korkut, A, Li, J, Liang, H, Ling, S, Liu, W, Lu, Y, Ng, K-S, Rao, A, Ryan, M, Wang, J, Weinstein, JN, Zhang, J, Abeshouse, A, Armenia, J, Chakravarty, D, Chatila, WK, de Bruijn, I, Gao, J, Gross, BE, Heins, ZJ, Kundra, R, La, K, Ladanyi, M, Luna, A, Nissan, MG, Ochoa, A, Phillips, SM, Sanchez-Vega, F, Sander, C, Schultz, N, Sheridan, R, Sumer, SO, Sun, Y, Taylor, BS, Wang, J, Zhang, H, Anur, P, Peto, M, Spellman, P, Benz, C, Stuart, JM, Wong, CK, Yau, C, Hayes, DN, Parker, JS, Wilkerson, MD, Ally, A, Balasundaram, M, Brooks, D, Carlsen, R, Chuah, E, Dhalla, N, Holt, R, Jones, SJM, Kasaian, K, Lee, D, Ma, Y, Marra, MA, Mayo, M, Moore, RA, Mungall, AJ, Mungall, K, Sadeghi, S, Schein, JE, Sipahimalani, P, Tam, A, Thiessen, N, Tse, K, Wong, T, Berger, AC, Cherniack, AD, Cibulskis, C, Gabriel, SB, Gao, GF, Ha, G, Meyerson, M, Schumacher, SE, Shih, J, Kucherlapati, MH, Kucherlapati, RS, Baylin, S, Cope, L, Danilova, L, Bootwalla, MS, Lai, PH, Maglinte, DT, Van Den Berg, DJ, Weisenberger, DJ, Auman, JT, Balu, S, Bodenheimer, T, Fan, C, Hoadley, KA, Hoyle, AP, Jefferys, SR, Jones, CD, Meng, S, Mieczkowski, PA, Mose, LE, Perou, AH, Perou, CM, Roach, J, Shi, Y, Simons, JV, Skelly, T, Soloway, MG, Tan, D, Veluvolu, U, Hinoue, T, Laird, PW, Zhou, W, Bellair, M, Chang, K, Covington, K, Creighton, CJ, Dinh, H, Doddapaneni, H, Donehower, LA, Drummond, J, Glenn, R, Hale, W, Han, Y, Hu, J, Korchina, V, Lee, S, Lewis, L, Li, W, Liu, X, Morgan, M, Morton, D, Muzny, D, Santibanez, J, Sheth, M, Shinbrot, E, Wang, L, Wang, M, Xi, L, Zhao, F, Hess, J, Appelbaum, EL, Bailey, M, Cordes, MG, Ding, L, Fronick, CC, Fulton, LA, Fulton, RS, Kandoth, C, Mardis, ER, McLellan, MD, Miller, CA, Schmidt, HK, Wilson, RK, Crain, D, Curley, E, Gardner, J, Lau, K, Mallery, D, Morris, S, Paulauskis, J, Penny, R, Shelton, C, Shelton, T, Sherman, M, Thompson, E, Yena, P, Bowen, J, Gastier-Foster, JM, Gerken, M, Leraas, KM, Lichtenberg, TM, Ramirez, NC, Wise, L, Zmuda, E, Corcoran, N, Costello, T, Hovens, C, Carvalho, AL, de Carvalho, AC, Fregnani, JH, Longatto-Filho, A, Reis, RM, Scapulatempo-Neto, C, Silveira, HCS, Vidal, DO, Burnette, A, Eschbacher, J, Hermes, B, Noss, A, Singh, R, Anderson, ML, Castro, PD, Ittmann, M, Huntsman, D, Kohl, B, Le, X, Thorp, R, Andry, C, Duffy, ER, Lyadov, V, Paklina, O, Setdikova, G, Shabunin, A, Tavobilov, M, McPherson, C, Warnick, R, Berkowitz, R, Cramer, D, Feltmate, C, Horowitz, N, Kibel, A, Muto, M, Raut, CP, Malykh, A, Barnholtz-Sloan, JS, Barrett, W, Devine, K, Fulop, J, Ostrom, QT, Shimmel, K, Wolinsky, Y, Sloan, AE, De Rose, A, Giuliante, F, Goodman, M, Karlan, BY, Hagedorn, CH, Eckman, J, Harr, J, Tucker, K, Zach, LA, Deyarmin, B, Hu, H, Kvecher, L, Larson, C, Mural, RJ, Somiari, S, Vicha, A, Zelinka, T, Bennett, J, Iacocca, M, Rabeno, B, Swanson, P, Latour, M, Lacombe, L, Têtu, B, Bergeron, A, McGraw, M, Staugaitis, SM, Chabot, J, Hibshoosh, H, Sepulveda, A, Su, T, Wang, T, Potapova, O, Voronina, O, Desjardins, L, Mariani, O, Roman-Roman, S, Sastre, X, Stern, M-H, Cheng, F, Berchuck, A, Bigner, D, Lipp, E, Marks, J, McCall, S, McLendon, R, Secord, A, Sharp, A, Behera, M, Brat, DJ, Chen, A, Delman, K, Force, S, Khuri, F, Magliocca, K, Maithel, S, Olson, JJ, Owonikoko, T, Pickens, A, Ramalingam, S, Shin, DM, Sica, G, Van Meir, EG, Zhang, H, Eijckenboom, W, Gillis, A, Korpershoek, E, Looijenga, L, Oosterhuis, W, Stoop, H, van Kessel, KE, Zwarthoff, EC, Calatozzolo, C, Cuppini, L, Cuzzubbo, S, DiMeco, F, Finocchiaro, G, Mattei, L, Perin, A, Pollo, B, Chen, C, Houck, J, Lohavanichbutr, P, Hartmann, A, Stoehr, C, Stoehr, R, Taubert, H, Wach, S, Wullich, B, Kycler, W, Murawa, D, Wiznerowicz, M, Chung, K, Edenfield, WJ, Martin, J, Baudin, E, Bubley, G, Bueno, R, De Rienzo, A, Richards, WG, Kalkanis, S, Mikkelsen, T, Noushmehr, H, Scarpace, L, Girard, N, Aymerich, M, Campo, E, Giné, E, Guillermo, AL, Van Bang, N, Hanh, PT, Phu, BD, Tang, Y, Colman, H, Evason, K, Dottino, PR, Martignetti, JA, Gabra, H, Juhl, H, Akeredolu, T, Stepa, S, Hoon, D, Ahn, K, Kang, KJ, Beuschlein, F, Breggia, A, Birrer, M, Bell, D, Borad, M, Bryce, AH, Castle, E, Chandan, V, Cheville, J, Copland, JA, Farnell, M, Flotte, T, Giama, N, Ho, T, Kendrick, M, Kocher, J-P, Kopp, K, Moser, C, Nagorney, D, O’Brien, D, O’Neill, BP, Patel, T, Petersen, G, Que, F, Rivera, M, Roberts, L, Smallridge, R, Smyrk, T, Stanton, M, Thompson, RH, Torbenson, M, Yang, JD, Zhang, L, Brimo, F, Ajani, JA, Gonzalez, AMA, Behrens, C, Bondaruk, J, Broaddus, R, Czerniak, B, Esmaeli, B, Fujimoto, J, Gershenwald, J, Guo, C, Lazar, AJ, Logothetis, C, Meric-Bernstam, F, Moran, C, Ramondetta, L, Rice, D, Sood, A, Thompson, T, Troncoso, P, Tsao, A, Wistuba, I, Carter, C, Haydu, L, Hersey, P, Jakrot, V, Kakavand, H, and Kefford, R et al.. "The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma." Cell Reports 23.12 (June 2018): 3698-3698.
Source
crossref
Published In
Cell Reports
Volume
23
Issue
12
Publish Date
2018
Start Page
3698
End Page
3698
DOI
10.1016/j.celrep.2018.06.032

Prospective Evaluation of Lymph Node Processing at Staging Surgery for High-grade Endometrial Cancer.

To determine whether the processing of additional adipose tissue collected during lymph node (LN) dissection results in the identification of additional LNs during endometrial cancer (EC) staging and to determine if the division of LNs into nodal basin-specific specimens has an effect on the number of LNs identified during EC staging. A prospective randomized controlled trial was performed on women with high-grade EC undergoing surgical staging. Subjects were randomized to collection of LNs into nodal basin-specific containers on the randomized side versus simple labeling on the nonrandomized side. The total number of LNs and total number of LNs with metastases on the randomized versus the nonrandomized side were compared. The remaining adipose tissue from each LN specimen was submitted for histologic examination. We analyzed the number of LNs with and without metastases identified from additional adipose tissue. Of 120 consented subjects, 56 had sufficient data for analysis. The additional adipose tissue contained 7.5 additional LNs per patient on average (range: 0-26). In 2/54 total cases (3.7%) and 2/5 cases with nodal metastases (40%), the additional adipose contained LNs with metastases. In both cases, metastases were also detected in grossly identified LN candidates. The mean number of LNs identified was not significantly different based on method of collection (P=0.22). The mean number of LNs containing metastases per side was not significantly different (P=0.58). Processing of adipose tissue does increase the total number of LNs identified, however, it does not influence EC stage. No difference in LN counts was noted with basin-specific collection.

Authors
Davidson, BA; Ehrisman, J; Abbott, S; Harmon, Z; Secord, AA; Berchuck, A; Lee, PS; Valea, FA; Li, X; Havrilesky, LJ; Hall, AHS
MLA Citation
Davidson, BA, Ehrisman, J, Abbott, S, Harmon, Z, Secord, AA, Berchuck, A, Lee, PS, Valea, FA, Li, X, Havrilesky, LJ, and Hall, AHS. "Prospective Evaluation of Lymph Node Processing at Staging Surgery for High-grade Endometrial Cancer." International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists 37.3 (May 2018): 252-255.
PMID
28700428
Source
epmc
Published In
International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists
Volume
37
Issue
3
Publish Date
2018
Start Page
252
End Page
255
DOI
10.1097/pgp.0000000000000418

Assessment of moderate coffee consumption and risk of epithelial ovarian cancer: a Mendelian randomization study

Authors
Ong, J-S; Hwang, L-D; Cuellar-Partida, G; Martin, NG; Chenevix-Trench, G; Quinn, MCJ; Cornelis, MC; Gharahkhani, P; Webb, PM; MacGregor, S; Bryne, E; Fasching, PA; Hein, A; Burghaus, S; Beckmann, MW; Lambrechts, D; Van Nieuwenhuysen, E; Vergote, I; Vanderstichele, A; Swerdlow, AJ; Jones, M; Orr, N; Schoemaker, M; Edwards, DV; Brenton, J; Benítez, J; García, MJ; Rodriguez-Antona, C; Rossing, MA; Fortner, RT; Riboli, E; Chang-Claude, J; Eilber, U; Wang-Gohrke, S; Yannoukakos, D; Goodman, MT; Bogdanova, N; Dörk, T; Duerst, M; Hillemanns, P; Runnebaum, IB; Antonenkova, N; Butzow, R; Nevanlinna, H; Pelttari, LM; Edwards, RP; Kelley, JL; Modugno, F; Moysich, KB; Ness, RB; Cannioto, R; Heitz, F; Karlan, B; Olsson, H; Kjaer, SK; Jensen, A; Giles, GG; Bruinsma, F; Hildebrandt, MAT; Liang, D; Wu, X; Le Marchand, L; Setiawan, VW; Permuth, JB; Bisogna, M; Dao, F; Levine, DA; Cramer, DW; Terry, KL; Tworoger, SS; Stampfer, M; Willet, W; Missmer, S; Bjorge, L; Kopperud, RK; Bischof, K; Thomsen, LCV; Kiemeney, LA; Massuger, LF; Pejovic, T; Brooks-Wilson, A; Olson, SH; McGuire, V; Rothstein, JH; Sieh, W; Whittemore, AS; Cook, LS; Le, ND; Gilks, CB; Gronwald, J; Jakubowska, A; Lubiński, J; Kluz, T; Wentzensen, N; Brinton, L; Trabert, B; Lissowska, J; Høgdall, E; Høgdall, CK; Sandler, DP; Wolk, A; Tyrer, JP; Song, H; Eccles, D; Campbell, I; Glasspool, R; McNeish, I; Paul, J; Siddiqui, N; Sutphen, R; McLaughlin, JR; Phelan, C; Anton-Culver, H; Ziogas, A; May, T; Gayther, SA; Gentry-Maharaj, A; Menon, U; Ramus, SJ; Wu, AH; Huntsman, D; deFazio, A; Dansonka-Mieszkowska, A; Kupryjanczyk, J; Moes-Sosnowska, J; Michal Szafron, L; Cunningham, JM; Winham, SJ; Risch, HA; Goode, EL; Schildkraut, JM; Pearce, CL; Berchuck, A; Pharoah, PDP
MLA Citation
Ong, J-S, Hwang, L-D, Cuellar-Partida, G, Martin, NG, Chenevix-Trench, G, Quinn, MCJ, Cornelis, MC, Gharahkhani, P, Webb, PM, MacGregor, S, Bryne, E, Fasching, PA, Hein, A, Burghaus, S, Beckmann, MW, Lambrechts, D, Van Nieuwenhuysen, E, Vergote, I, Vanderstichele, A, Swerdlow, AJ, Jones, M, Orr, N, Schoemaker, M, Edwards, DV, Brenton, J, Benítez, J, García, MJ, Rodriguez-Antona, C, Rossing, MA, Fortner, RT, Riboli, E, Chang-Claude, J, Eilber, U, Wang-Gohrke, S, Yannoukakos, D, Goodman, MT, Bogdanova, N, Dörk, T, Duerst, M, Hillemanns, P, Runnebaum, IB, Antonenkova, N, Butzow, R, Nevanlinna, H, Pelttari, LM, Edwards, RP, Kelley, JL, Modugno, F, Moysich, KB, Ness, RB, Cannioto, R, Heitz, F, Karlan, B, Olsson, H, Kjaer, SK, Jensen, A, Giles, GG, Bruinsma, F, Hildebrandt, MAT, Liang, D, Wu, X, Le Marchand, L, Setiawan, VW, Permuth, JB, Bisogna, M, Dao, F, Levine, DA, Cramer, DW, Terry, KL, Tworoger, SS, Stampfer, M, Willet, W, Missmer, S, Bjorge, L, Kopperud, RK, Bischof, K, Thomsen, LCV, Kiemeney, LA, Massuger, LF, Pejovic, T, Brooks-Wilson, A, Olson, SH, McGuire, V, Rothstein, JH, Sieh, W, Whittemore, AS, Cook, LS, Le, ND, Gilks, CB, Gronwald, J, Jakubowska, A, Lubiński, J, Kluz, T, Wentzensen, N, Brinton, L, Trabert, B, Lissowska, J, Høgdall, E, Høgdall, CK, Sandler, DP, Wolk, A, Tyrer, JP, Song, H, Eccles, D, Campbell, I, Glasspool, R, McNeish, I, Paul, J, Siddiqui, N, Sutphen, R, McLaughlin, JR, Phelan, C, Anton-Culver, H, Ziogas, A, May, T, Gayther, SA, Gentry-Maharaj, A, Menon, U, Ramus, SJ, Wu, AH, Huntsman, D, deFazio, A, Dansonka-Mieszkowska, A, Kupryjanczyk, J, Moes-Sosnowska, J, Michal Szafron, L, Cunningham, JM, Winham, SJ, Risch, HA, Goode, EL, Schildkraut, JM, Pearce, CL, Berchuck, A, and Pharoah, PDP. "Assessment of moderate coffee consumption and risk of epithelial ovarian cancer: a Mendelian randomization study." International Journal of Epidemiology 47.2 (April 1, 2018): 450-459.
Source
crossref
Published In
International Journal of Epidemiology
Volume
47
Issue
2
Publish Date
2018
Start Page
450
End Page
459
DOI
10.1093/ije/dyx236

Racial/ethnic differences in the epidemiology of ovarian cancer: a pooled analysis of 12 case-control studies.

Ovarian cancer incidence differs substantially by race/ethnicity, but the reasons for this are not well understood. Data were pooled from the African American Cancer Epidemiology Study (AACES) and 11 case-control studies in the Ovarian Cancer Association Consortium (OCAC) to examine racial/ethnic differences in epidemiological characteristics with suspected involvement in epithelial ovarian cancer (EOC) aetiology.We used multivariable logistic regression to estimate associations for 17 reproductive, hormonal and lifestyle characteristics and EOC risk by race/ethnicity among 10 924 women with invasive EOC (8918 Non-Hispanic Whites, 433 Hispanics, 911 Blacks, 662 Asian/Pacific Islanders) and 16 150 controls (13 619 Non-Hispanic Whites, 533 Hispanics, 1233 Blacks, 765 Asian/Pacific Islanders). Likelihood ratio tests were used to evaluate heterogeneity in the risk factor associations by race/ethnicity.We observed statistically significant racial/ethnic heterogeneity for hysterectomy and EOC risk (P = 0.008), where the largest odds ratio (OR) was observed in Black women [OR = 1.64, 95% confidence interval (CI) = 1.34-2.02] compared with other racial/ethnic groups. Although not statistically significant, the associations for parity, first-degree family history of ovarian or breast cancer, and endometriosis varied by race/ethnicity. Asian/Pacific Islanders had the greatest magnitude of association for parity (≥3 births: OR = 0.38, 95% CI = 0.28-0.54), and Black women had the largest ORs for family history (OR = 1.77, 95% CI = 1.42-2.21) and endometriosis (OR = 2.42, 95% CI = 1.65-3.55).Although racial/ethnic heterogeneity was observed for hysterectomy, our findings support the validity of EOC risk factors across all racial/ethnic groups, and further suggest that any racial/ethnic population with a higher prevalence of a modifiable risk factor should be targeted to disseminate information about prevention.

Authors
Peres, LC; Risch, H; Terry, KL; Webb, PM; Goodman, MT; Wu, AH; Alberg, AJ; Bandera, EV; Barnholtz-Sloan, J; Bondy, ML; Cote, ML; Funkhouser, E; Moorman, PG; Peters, ES; Schwartz, AG; Terry, PD; Manichaikul, A; Abbott, SE; Camacho, F; Jordan, SJ; Nagle, CM; Australian Ovarian Cancer Study Group, ; Rossing, MA; Doherty, JA; Modugno, F; Moysich, K; Ness, R; Berchuck, A; Cook, L; Le, N; Brooks-Wilson, A; Sieh, W; Whittemore, A; McGuire, V; Rothstein, J; Anton-Culver, H; Ziogas, A; Pearce, CL; Tseng, C; Pike, M; Schildkraut, JM; African American Cancer Epidemiology Study and the Ovarian Cancer Association Consortium,
MLA Citation
Peres, LC, Risch, H, Terry, KL, Webb, PM, Goodman, MT, Wu, AH, Alberg, AJ, Bandera, EV, Barnholtz-Sloan, J, Bondy, ML, Cote, ML, Funkhouser, E, Moorman, PG, Peters, ES, Schwartz, AG, Terry, PD, Manichaikul, A, Abbott, SE, Camacho, F, Jordan, SJ, Nagle, CM, Australian Ovarian Cancer Study Group, , Rossing, MA, Doherty, JA, Modugno, F, Moysich, K, Ness, R, Berchuck, A, Cook, L, Le, N, Brooks-Wilson, A, Sieh, W, Whittemore, A, McGuire, V, Rothstein, J, Anton-Culver, H, Ziogas, A, Pearce, CL, Tseng, C, Pike, M, Schildkraut, JM, and African American Cancer Epidemiology Study and the Ovarian Cancer Association Consortium, . "Racial/ethnic differences in the epidemiology of ovarian cancer: a pooled analysis of 12 case-control studies." International Journal of Epidemiology 47.2 (April 2018): 460-472.
PMID
29211900
Source
epmc
Published In
International Journal of Epidemiology
Volume
47
Issue
2
Publish Date
2018
Start Page
460
End Page
472
DOI
10.1093/ije/dyx252

The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma

Authors
Ricketts, CJ; De Cubas, AA; Fan, H; Smith, CC; Lang, M; Reznik, E; Bowlby, R; Gibb, EA; Akbani, R; Beroukhim, R; Bottaro, DP; Choueiri, TK; Gibbs, RA; Godwin, AK; Haake, S; Hakimi, AA; Henske, EP; Hsieh, JJ; Ho, TH; Kanchi, RS; Krishnan, B; Kwiatkowski, DJ; Lui, W; Merino, MJ; Mills, GB; Myers, J; Nickerson, ML; Reuter, VE; Schmidt, LS; Shelley, CS; Shen, H; Shuch, B; Signoretti, S; Srinivasan, R; Tamboli, P; Thomas, G; Vincent, BG; Vocke, CD; Wheeler, DA; Yang, L; Kim, WY; Robertson, AG; Spellman, PT; Rathmell, WK; Linehan, WM; Caesar-Johnson, SJ; Demchok, JA; Felau, I; Kasapi, M; Ferguson, ML; Hutter, CM; Sofia, HJ; Tarnuzzer, R; Wang, Z; Yang, L; Zenklusen, JC; Zhang, JJ; Chudamani, S; Liu, J; Lolla, L; Naresh, R; Pihl, T; Sun, Q; Wan, Y; Wu, Y; Cho, J; DeFreitas, T; Frazer, S; Gehlenborg, N; Getz, G; Heiman, DI; Kim, J; Lawrence, MS; Lin, P; Meier, S; Noble, MS; Saksena, G; Voet, D; Zhang, H; Bernard, B; Chambwe, N; Dhankani, V; Knijnenburg, T; Kramer, R; Leinonen, K; Liu, Y; Miller, M; Reynolds, S; Shmulevich, I; Thorsson, V; Zhang, W; Broom, BM; Hegde, AM; Ju, Z; Korkut, A; Li, J; Liang, H; Ling, S; Liu, W; Lu, Y; Ng, K-S; Rao, A; Ryan, M; Wang, J; Weinstein, JN; Zhang, J; Abeshouse, A; Armenia, J; Chakravarty, D; Chatila, WK; de Bruijn, I; Gao, J; Gross, BE; Heins, ZJ; Kundra, R; La, K; Ladanyi, M; Luna, A; Nissan, MG; Ochoa, A; Phillips, SM; Sanchez-Vega, F; Sander, C; Schultz, N; Sheridan, R; Sumer, SO; Sun, Y; Taylor, BS; Wang, J; Zhang, H; Anur, P; Peto, M; Spellman, P; Benz, C; Stuart, JM; Wong, CK; Yau, C; Hayes, DN; Parker, JS; Wilkerson, MD; Ally, A; Balasundaram, M; Brooks, D; Carlsen, R; Chuah, E; Dhalla, N; Holt, R; Jones, SJM; Kasaian, K; Lee, D; Ma, Y; Marra, MA; Mayo, M; Moore, RA; Mungall, AJ; Mungall, K; Sadeghi, S; Schein, JE; Sipahimalani, P; Tam, A; Thiessen, N; Tse, K; Wong, T; Berger, AC; Cherniack, AD; Cibulskis, C; Gabriel, SB; Gao, GF; Ha, G; Meyerson, M; Schumacher, SE; Shih, J; Kucherlapati, MH; Kucherlapati, RS; Baylin, S; Cope, L; Danilova, L; Bootwalla, MS; Lai, PH; Maglinte, DT; Van Den Berg, DJ; Weisenberger, DJ; Auman, JT; Balu, S; Bodenheimer, T; Fan, C; Hoadley, KA; Hoyle, AP; Jefferys, SR; Jones, CD; Meng, S; Mieczkowski, PA; Mose, LE; Perou, AH; Perou, CM; Roach, J; Shi, Y; Simons, JV; Skelly, T; Soloway, MG; Tan, D; Veluvolu, U; Hinoue, T; Laird, PW; Zhou, W; Bellair, M; Chang, K; Covington, K; Creighton, CJ; Dinh, H; Doddapaneni, H; Donehower, LA; Drummond, J; Glenn, R; Hale, W; Han, Y; Hu, J; Korchina, V; Lee, S; Lewis, L; Li, W; Liu, X; Morgan, M; Morton, D; Muzny, D; Santibanez, J; Sheth, M; Shinbrot, E; Wang, L; Wang, M; Xi, L; Zhao, F; Hess, J; Appelbaum, EL; Bailey, M; Cordes, MG; Ding, L; Fronick, CC; Fulton, LA; Fulton, RS; Kandoth, C; Mardis, ER; McLellan, MD; Miller, CA; Schmidt, HK; Wilson, RK; Crain, D; Curley, E; Gardner, J; Lau, K; Mallery, D; Morris, S; Paulauskis, J; Penny, R; Shelton, C; Shelton, T; Sherman, M; Thompson, E; Yena, P; Bowen, J; Gastier-Foster, JM; Gerken, M; Leraas, KM; Lichtenberg, TM; Ramirez, NC; Wise, L; Zmuda, E; Corcoran, N; Costello, T; Hovens, C; Carvalho, AL; de Carvalho, AC; Fregnani, JH; Longatto-Filho, A; Reis, RM; Scapulatempo-Neto, C; Silveira, HCS; Vidal, DO; Burnette, A; Eschbacher, J; Hermes, B; Noss, A; Singh, R; Anderson, ML; Castro, PD; Ittmann, M; Huntsman, D; Kohl, B; Le, X; Thorp, R; Andry, C; Duffy, ER; Lyadov, V; Paklina, O; Setdikova, G; Shabunin, A; Tavobilov, M; McPherson, C; Warnick, R; Berkowitz, R; Cramer, D; Feltmate, C; Horowitz, N; Kibel, A; Muto, M; Raut, CP; Malykh, A; Barnholtz-Sloan, JS; Barrett, W; Devine, K; Fulop, J; Ostrom, QT; Shimmel, K; Wolinsky, Y; Sloan, AE; De Rose, A; Giuliante, F; Goodman, M; Karlan, BY; Hagedorn, CH; Eckman, J; Harr, J; Tucker, K; Zach, LA; Deyarmin, B; Hu, H; Kvecher, L; Larson, C; Mural, RJ; Somiari, S; Vicha, A; Zelinka, T; Bennett, J; Iacocca, M; Rabeno, B; Swanson, P; Latour, M; Lacombe, L; Têtu, B; Bergeron, A; McGraw, M; Staugaitis, SM; Chabot, J; Hibshoosh, H; Sepulveda, A; Su, T; Wang, T; Potapova, O; Voronina, O; Desjardins, L; Mariani, O; Roman-Roman, S; Sastre, X; Stern, M-H; Cheng, F; Berchuck, A; Bigner, D; Lipp, E; Marks, J; McCall, S; McLendon, R; Secord, A; Sharp, A; Behera, M; Brat, DJ; Chen, A; Delman, K; Force, S; Khuri, F; Magliocca, K; Maithel, S; Olson, JJ; Owonikoko, T; Pickens, A; Ramalingam, S; Shin, DM; Sica, G; Van Meir, EG; Zhang, H; Eijckenboom, W; Gillis, A; Korpershoek, E; Looijenga, L; Oosterhuis, W; Stoop, H; van Kessel, KE; Zwarthoff, EC; Calatozzolo, C; Cuppini, L; Cuzzubbo, S; DiMeco, F; Finocchiaro, G; Mattei, L; Perin, A; Pollo, B; Chen, C; Houck, J; Lohavanichbutr, P; Hartmann, A; Stoehr, C; Stoehr, R; Taubert, H; Wach, S; Wullich, B; Kycler, W; Murawa, D; Wiznerowicz, M; Chung, K; Edenfield, WJ; Martin, J; Baudin, E; Bubley, G; Bueno, R; De Rienzo, A; Richards, WG; Kalkanis, S; Mikkelsen, T; Noushmehr, H; Scarpace, L; Girard, N; Aymerich, M; Campo, E; Giné, E; Guillermo, AL; Van Bang, N; Hanh, PT; Phu, BD; Tang, Y; Colman, H; Evason, K; Dottino, PR; Martignetti, JA; Gabra, H; Juhl, H; Akeredolu, T; Stepa, S; Hoon, D; Ahn, K; Kang, KJ; Beuschlein, F; Breggia, A; Birrer, M; Bell, D; Borad, M; Bryce, AH; Castle, E; Chandan, V; Cheville, J; Copland, JA; Farnell, M; Flotte, T; Giama, N; Ho, T; Kendrick, M; Kocher, J-P; Kopp, K; Moser, C; Nagorney, D; O’Brien, D; O’Neill, BP; Patel, T; Petersen, G; Que, F; Rivera, M; Roberts, L; Smallridge, R; Smyrk, T; Stanton, M; Thompson, RH; Torbenson, M; Yang, JD; Zhang, L; Brimo, F; Ajani, JA; Gonzalez, AMA; Behrens, C; Bondaruk, J; Broaddus, R; Czerniak, B; Esmaeli, B; Fujimoto, J; Gershenwald, J; Guo, C; Lazar, AJ; Logothetis, C; Meric-Bernstam, F; Moran, C; Ramondetta, L; Rice, D; Sood, A; Thompson, T; Troncoso, P; Tsao, A; Wistuba, I; Carter, C; Haydu, L; Hersey, P; Jakrot, V; Kakavand, H; Kefford, R et al.
MLA Citation
Ricketts, CJ, De Cubas, AA, Fan, H, Smith, CC, Lang, M, Reznik, E, Bowlby, R, Gibb, EA, Akbani, R, Beroukhim, R, Bottaro, DP, Choueiri, TK, Gibbs, RA, Godwin, AK, Haake, S, Hakimi, AA, Henske, EP, Hsieh, JJ, Ho, TH, Kanchi, RS, Krishnan, B, Kwiatkowski, DJ, Lui, W, Merino, MJ, Mills, GB, Myers, J, Nickerson, ML, Reuter, VE, Schmidt, LS, Shelley, CS, Shen, H, Shuch, B, Signoretti, S, Srinivasan, R, Tamboli, P, Thomas, G, Vincent, BG, Vocke, CD, Wheeler, DA, Yang, L, Kim, WY, Robertson, AG, Spellman, PT, Rathmell, WK, Linehan, WM, Caesar-Johnson, SJ, Demchok, JA, Felau, I, Kasapi, M, Ferguson, ML, Hutter, CM, Sofia, HJ, Tarnuzzer, R, Wang, Z, Yang, L, Zenklusen, JC, Zhang, JJ, Chudamani, S, Liu, J, Lolla, L, Naresh, R, Pihl, T, Sun, Q, Wan, Y, Wu, Y, Cho, J, DeFreitas, T, Frazer, S, Gehlenborg, N, Getz, G, Heiman, DI, Kim, J, Lawrence, MS, Lin, P, Meier, S, Noble, MS, Saksena, G, Voet, D, Zhang, H, Bernard, B, Chambwe, N, Dhankani, V, Knijnenburg, T, Kramer, R, Leinonen, K, Liu, Y, Miller, M, Reynolds, S, Shmulevich, I, Thorsson, V, Zhang, W, Broom, BM, Hegde, AM, Ju, Z, Korkut, A, Li, J, Liang, H, Ling, S, Liu, W, Lu, Y, Ng, K-S, Rao, A, Ryan, M, Wang, J, Weinstein, JN, Zhang, J, Abeshouse, A, Armenia, J, Chakravarty, D, Chatila, WK, de Bruijn, I, Gao, J, Gross, BE, Heins, ZJ, Kundra, R, La, K, Ladanyi, M, Luna, A, Nissan, MG, Ochoa, A, Phillips, SM, Sanchez-Vega, F, Sander, C, Schultz, N, Sheridan, R, Sumer, SO, Sun, Y, Taylor, BS, Wang, J, Zhang, H, Anur, P, Peto, M, Spellman, P, Benz, C, Stuart, JM, Wong, CK, Yau, C, Hayes, DN, Parker, JS, Wilkerson, MD, Ally, A, Balasundaram, M, Brooks, D, Carlsen, R, Chuah, E, Dhalla, N, Holt, R, Jones, SJM, Kasaian, K, Lee, D, Ma, Y, Marra, MA, Mayo, M, Moore, RA, Mungall, AJ, Mungall, K, Sadeghi, S, Schein, JE, Sipahimalani, P, Tam, A, Thiessen, N, Tse, K, Wong, T, Berger, AC, Cherniack, AD, Cibulskis, C, Gabriel, SB, Gao, GF, Ha, G, Meyerson, M, Schumacher, SE, Shih, J, Kucherlapati, MH, Kucherlapati, RS, Baylin, S, Cope, L, Danilova, L, Bootwalla, MS, Lai, PH, Maglinte, DT, Van Den Berg, DJ, Weisenberger, DJ, Auman, JT, Balu, S, Bodenheimer, T, Fan, C, Hoadley, KA, Hoyle, AP, Jefferys, SR, Jones, CD, Meng, S, Mieczkowski, PA, Mose, LE, Perou, AH, Perou, CM, Roach, J, Shi, Y, Simons, JV, Skelly, T, Soloway, MG, Tan, D, Veluvolu, U, Hinoue, T, Laird, PW, Zhou, W, Bellair, M, Chang, K, Covington, K, Creighton, CJ, Dinh, H, Doddapaneni, H, Donehower, LA, Drummond, J, Glenn, R, Hale, W, Han, Y, Hu, J, Korchina, V, Lee, S, Lewis, L, Li, W, Liu, X, Morgan, M, Morton, D, Muzny, D, Santibanez, J, Sheth, M, Shinbrot, E, Wang, L, Wang, M, Xi, L, Zhao, F, Hess, J, Appelbaum, EL, Bailey, M, Cordes, MG, Ding, L, Fronick, CC, Fulton, LA, Fulton, RS, Kandoth, C, Mardis, ER, McLellan, MD, Miller, CA, Schmidt, HK, Wilson, RK, Crain, D, Curley, E, Gardner, J, Lau, K, Mallery, D, Morris, S, Paulauskis, J, Penny, R, Shelton, C, Shelton, T, Sherman, M, Thompson, E, Yena, P, Bowen, J, Gastier-Foster, JM, Gerken, M, Leraas, KM, Lichtenberg, TM, Ramirez, NC, Wise, L, Zmuda, E, Corcoran, N, Costello, T, Hovens, C, Carvalho, AL, de Carvalho, AC, Fregnani, JH, Longatto-Filho, A, Reis, RM, Scapulatempo-Neto, C, Silveira, HCS, Vidal, DO, Burnette, A, Eschbacher, J, Hermes, B, Noss, A, Singh, R, Anderson, ML, Castro, PD, Ittmann, M, Huntsman, D, Kohl, B, Le, X, Thorp, R, Andry, C, Duffy, ER, Lyadov, V, Paklina, O, Setdikova, G, Shabunin, A, Tavobilov, M, McPherson, C, Warnick, R, Berkowitz, R, Cramer, D, Feltmate, C, Horowitz, N, Kibel, A, Muto, M, Raut, CP, Malykh, A, Barnholtz-Sloan, JS, Barrett, W, Devine, K, Fulop, J, Ostrom, QT, Shimmel, K, Wolinsky, Y, Sloan, AE, De Rose, A, Giuliante, F, Goodman, M, Karlan, BY, Hagedorn, CH, Eckman, J, Harr, J, Tucker, K, Zach, LA, Deyarmin, B, Hu, H, Kvecher, L, Larson, C, Mural, RJ, Somiari, S, Vicha, A, Zelinka, T, Bennett, J, Iacocca, M, Rabeno, B, Swanson, P, Latour, M, Lacombe, L, Têtu, B, Bergeron, A, McGraw, M, Staugaitis, SM, Chabot, J, Hibshoosh, H, Sepulveda, A, Su, T, Wang, T, Potapova, O, Voronina, O, Desjardins, L, Mariani, O, Roman-Roman, S, Sastre, X, Stern, M-H, Cheng, F, Berchuck, A, Bigner, D, Lipp, E, Marks, J, McCall, S, McLendon, R, Secord, A, Sharp, A, Behera, M, Brat, DJ, Chen, A, Delman, K, Force, S, Khuri, F, Magliocca, K, Maithel, S, Olson, JJ, Owonikoko, T, Pickens, A, Ramalingam, S, Shin, DM, Sica, G, Van Meir, EG, Zhang, H, Eijckenboom, W, Gillis, A, Korpershoek, E, Looijenga, L, Oosterhuis, W, Stoop, H, van Kessel, KE, Zwarthoff, EC, Calatozzolo, C, Cuppini, L, Cuzzubbo, S, DiMeco, F, Finocchiaro, G, Mattei, L, Perin, A, Pollo, B, Chen, C, Houck, J, Lohavanichbutr, P, Hartmann, A, Stoehr, C, Stoehr, R, Taubert, H, Wach, S, Wullich, B, Kycler, W, Murawa, D, Wiznerowicz, M, Chung, K, Edenfield, WJ, Martin, J, Baudin, E, Bubley, G, Bueno, R, De Rienzo, A, Richards, WG, Kalkanis, S, Mikkelsen, T, Noushmehr, H, Scarpace, L, Girard, N, Aymerich, M, Campo, E, Giné, E, Guillermo, AL, Van Bang, N, Hanh, PT, Phu, BD, Tang, Y, Colman, H, Evason, K, Dottino, PR, Martignetti, JA, Gabra, H, Juhl, H, Akeredolu, T, Stepa, S, Hoon, D, Ahn, K, Kang, KJ, Beuschlein, F, Breggia, A, Birrer, M, Bell, D, Borad, M, Bryce, AH, Castle, E, Chandan, V, Cheville, J, Copland, JA, Farnell, M, Flotte, T, Giama, N, Ho, T, Kendrick, M, Kocher, J-P, Kopp, K, Moser, C, Nagorney, D, O’Brien, D, O’Neill, BP, Patel, T, Petersen, G, Que, F, Rivera, M, Roberts, L, Smallridge, R, Smyrk, T, Stanton, M, Thompson, RH, Torbenson, M, Yang, JD, Zhang, L, Brimo, F, Ajani, JA, Gonzalez, AMA, Behrens, C, Bondaruk, J, Broaddus, R, Czerniak, B, Esmaeli, B, Fujimoto, J, Gershenwald, J, Guo, C, Lazar, AJ, Logothetis, C, Meric-Bernstam, F, Moran, C, Ramondetta, L, Rice, D, Sood, A, Thompson, T, Troncoso, P, Tsao, A, Wistuba, I, Carter, C, Haydu, L, Hersey, P, Jakrot, V, Kakavand, H, and Kefford, R et al.. "The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma." Cell Reports 23.1 (April 2018): 313-326.e5.
Source
crossref
Published In
Cell Reports
Volume
23
Issue
1
Publish Date
2018
Start Page
313
End Page
326.e5
DOI
10.1016/j.celrep.2018.03.075

Pan-Cancer Analysis of lncRNA Regulation Supports Their Targeting of Cancer Genes in Each Tumor Context

Authors
Chiu, H-S; Somvanshi, S; Patel, E; Chen, T-W; Singh, VP; Zorman, B; Patil, SL; Pan, Y; Chatterjee, SS; Sood, AK; Gunaratne, PH; Sumazin, P; Caesar-Johnson, SJ; Demchok, JA; Felau, I; Kasapi, M; Ferguson, ML; Hutter, CM; Sofia, HJ; Tarnuzzer, R; Wang, Z; Yang, L; Zenklusen, JC; Zhang, JJ; Chudamani, S; Liu, J; Lolla, L; Naresh, R; Pihl, T; Sun, Q; Wan, Y; Wu, Y; Cho, J; DeFreitas, T; Frazer, S; Gehlenborg, N; Getz, G; Heiman, DI; Kim, J; Lawrence, MS; Lin, P; Meier, S; Noble, MS; Saksena, G; Voet, D; Zhang, H; Bernard, B; Chambwe, N; Dhankani, V; Knijnenburg, T; Kramer, R; Leinonen, K; Liu, Y; Miller, M; Reynolds, S; Shmulevich, I; Thorsson, V; Zhang, W; Akbani, R; Broom, BM; Hegde, AM; Ju, Z; Kanchi, RS; Korkut, A; Li, J; Liang, H; Ling, S; Liu, W; Lu, Y; Mills, GB; Ng, K-S; Rao, A; Ryan, M; Wang, J; Weinstein, JN; Zhang, J; Abeshouse, A; Armenia, J; Chakravarty, D; Chatila, WK; de Bruijn, I; Gao, J; Gross, BE; Heins, ZJ; Kundra, R; La, K; Ladanyi, M; Luna, A; Nissan, MG; Ochoa, A; Phillips, SM; Reznik, E; Sanchez-Vega, F; Sander, C; Schultz, N; Sheridan, R; Sumer, SO; Sun, Y; Taylor, BS; Wang, J; Zhang, H; Anur, P; Peto, M; Spellman, P; Benz, C; Stuart, JM; Wong, CK; Yau, C; Hayes, DN; Parker, JS; Wilkerson, MD; Ally, A; Balasundaram, M; Bowlby, R; Brooks, D; Carlsen, R; Chuah, E; Dhalla, N; Holt, R; Jones, SJM; Kasaian, K; Lee, D; Ma, Y; Marra, MA; Mayo, M; Moore, RA; Mungall, AJ; Mungall, K; Robertson, AG; Sadeghi, S; Schein, JE; Sipahimalani, P; Tam, A; Thiessen, N; Tse, K; Wong, T; Berger, AC; Beroukhim, R; Cherniack, AD; Cibulskis, C; Gabriel, SB; Gao, GF; Ha, G; Meyerson, M; Schumacher, SE; Shih, J; Kucherlapati, MH; Kucherlapati, RS; Baylin, S; Cope, L; Danilova, L; Bootwalla, MS; Lai, PH; Maglinte, DT; Van Den Berg, DJ; Weisenberger, DJ; Auman, JT; Balu, S; Bodenheimer, T; Fan, C; Hoadley, KA; Hoyle, AP; Jefferys, SR; Jones, CD; Meng, S; Mieczkowski, PA; Mose, LE; Perou, AH; Perou, CM; Roach, J; Shi, Y; Simons, JV; Skelly, T; Soloway, MG; Tan, D; Veluvolu, U; Fan, H; Hinoue, T; Laird, PW; Shen, H; Zhou, W; Bellair, M; Chang, K; Covington, K; Creighton, CJ; Dinh, H; Doddapaneni, H; Donehower, LA; Drummond, J; Gibbs, RA; Glenn, R; Hale, W; Han, Y; Hu, J; Korchina, V; Lee, S; Lewis, L; Li, W; Liu, X; Morgan, M; Morton, D; Muzny, D; Santibanez, J; Sheth, M; Shinbrot, E; Wang, L; Wang, M; Wheeler, DA; Xi, L; Zhao, F; Hess, J; Appelbaum, EL; Bailey, M; Cordes, MG; Ding, L; Fronick, CC; Fulton, LA; Fulton, RS; Kandoth, C; Mardis, ER; McLellan, MD; Miller, CA; Schmidt, HK; Wilson, RK; Crain, D; Curley, E; Gardner, J; Lau, K; Mallery, D; Morris, S; Paulauskis, J; Penny, R; Shelton, C; Shelton, T; Sherman, M; Thompson, E; Yena, P; Bowen, J; Gastier-Foster, JM; Gerken, M; Leraas, KM; Lichtenberg, TM; Ramirez, NC; Wise, L; Zmuda, E; Corcoran, N; Costello, T; Hovens, C; Carvalho, AL; de Carvalho, AC; Fregnani, JH; Longatto-Filho, A; Reis, RM; Scapulatempo-Neto, C; Silveira, HCS; Vidal, DO; Burnette, A; Eschbacher, J; Hermes, B; Noss, A; Singh, R; Anderson, ML; Castro, PD; Ittmann, M; Huntsman, D; Kohl, B; Le, X; Thorp, R; Andry, C; Duffy, ER; Lyadov, V; Paklina, O; Setdikova, G; Shabunin, A; Tavobilov, M; McPherson, C; Warnick, R; Berkowitz, R; Cramer, D; Feltmate, C; Horowitz, N; Kibel, A; Muto, M; Raut, CP; Malykh, A; Barnholtz-Sloan, JS; Barrett, W; Devine, K; Fulop, J; Ostrom, QT; Shimmel, K; Wolinsky, Y; Sloan, AE; De Rose, A; Giuliante, F; Goodman, M; Karlan, BY; Hagedorn, CH; Eckman, J; Harr, J; Myers, J; Tucker, K; Zach, LA; Deyarmin, B; Hu, H; Kvecher, L; Larson, C; Mural, RJ; Somiari, S; Vicha, A; Zelinka, T; Bennett, J; Iacocca, M; Rabeno, B; Swanson, P; Latour, M; Lacombe, L; Têtu, B; Bergeron, A; McGraw, M; Staugaitis, SM; Chabot, J; Hibshoosh, H; Sepulveda, A; Su, T; Wang, T; Potapova, O; Voronina, O; Desjardins, L; Mariani, O; Roman-Roman, S; Sastre, X; Stern, M-H; Cheng, F; Signoretti, S; Berchuck, A; Bigner, D; Lipp, E; Marks, J; McCall, S; McLendon, R; Secord, A; Sharp, A; Behera, M; Brat, DJ; Chen, A; Delman, K; Force, S; Khuri, F; Magliocca, K; Maithel, S; Olson, JJ; Owonikoko, T; Pickens, A; Ramalingam, S; Shin, DM; Sica, G; Van Meir, EG; Zhang, H; Eijckenboom, W; Gillis, A; Korpershoek, E; Looijenga, L; Oosterhuis, W; Stoop, H; van Kessel, KE; Zwarthoff, EC; Calatozzolo, C; Cuppini, L; Cuzzubbo, S; DiMeco, F; Finocchiaro, G; Mattei, L; Perin, A; Pollo, B; Chen, C; Houck, J; Lohavanichbutr, P; Hartmann, A; Stoehr, C; Stoehr, R; Taubert, H; Wach, S; Wullich, B; Kycler, W; Murawa, D; Wiznerowicz, M; Chung, K; Edenfield, WJ; Martin, J; Baudin, E; Bubley, G; Bueno, R; De Rienzo, A; Richards, WG; Kalkanis, S; Mikkelsen, T; Noushmehr, H; Scarpace, L; Girard, N; Aymerich, M; Campo, E; Giné, E; Guillermo, AL; Van Bang, N; Hanh, PT; Phu, BD; Tang, Y; Colman, H; Evason, K; Dottino, PR; Martignetti, JA; Gabra, H; Juhl, H; Akeredolu, T; Stepa, S; Hoon, D; Ahn, K; Kang, KJ; Beuschlein, F; Breggia, A; Birrer, M; Bell, D; Borad, M; Bryce, AH; Castle, E; Chandan, V; Cheville, J; Copland, JA; Farnell, M; Flotte, T; Giama, N; Ho, T; Kendrick, M; Kocher, J-P; Kopp, K; Moser, C; Nagorney, D; O’Brien, D; O’Neill, BP; Patel, T; Petersen, G; Que, F; Rivera, M; Roberts, L; Smallridge, R; Smyrk, T; Stanton, M; Thompson, RH; Torbenson, M; Yang, JD; Zhang, L; Brimo, F; Ajani, JA; Gonzalez, AMA; Behrens, C; Bondaruk, J; Broaddus, R; Czerniak, B; Esmaeli, B; Fujimoto, J; Gershenwald, J; Guo, C; Lazar, AJ; Logothetis, C; Meric-Bernstam, F; Moran, C; Ramondetta, L; Rice, D; Sood, A; Tamboli, P; Thompson, T; Troncoso, P; Tsao, A; Wistuba, I; Carter, C; Haydu, L; Hersey, P; Jakrot, V; Kakavand, H; Kefford, R; Lee, K; Long, G; Mann, G; Quinn, M; Saw, R; Scolyer, R; Shannon, K; Spillane, A; Stretch, J; Synott, M; Thompson, J; Wilmott, J; Al-Ahmadie, H; Chan, TA; Ghossein, R; Gopalan, A; Levine, DA; Reuter, V; Singer, S et al.
MLA Citation
Chiu, H-S, Somvanshi, S, Patel, E, Chen, T-W, Singh, VP, Zorman, B, Patil, SL, Pan, Y, Chatterjee, SS, Sood, AK, Gunaratne, PH, Sumazin, P, Caesar-Johnson, SJ, Demchok, JA, Felau, I, Kasapi, M, Ferguson, ML, Hutter, CM, Sofia, HJ, Tarnuzzer, R, Wang, Z, Yang, L, Zenklusen, JC, Zhang, JJ, Chudamani, S, Liu, J, Lolla, L, Naresh, R, Pihl, T, Sun, Q, Wan, Y, Wu, Y, Cho, J, DeFreitas, T, Frazer, S, Gehlenborg, N, Getz, G, Heiman, DI, Kim, J, Lawrence, MS, Lin, P, Meier, S, Noble, MS, Saksena, G, Voet, D, Zhang, H, Bernard, B, Chambwe, N, Dhankani, V, Knijnenburg, T, Kramer, R, Leinonen, K, Liu, Y, Miller, M, Reynolds, S, Shmulevich, I, Thorsson, V, Zhang, W, Akbani, R, Broom, BM, Hegde, AM, Ju, Z, Kanchi, RS, Korkut, A, Li, J, Liang, H, Ling, S, Liu, W, Lu, Y, Mills, GB, Ng, K-S, Rao, A, Ryan, M, Wang, J, Weinstein, JN, Zhang, J, Abeshouse, A, Armenia, J, Chakravarty, D, Chatila, WK, de Bruijn, I, Gao, J, Gross, BE, Heins, ZJ, Kundra, R, La, K, Ladanyi, M, Luna, A, Nissan, MG, Ochoa, A, Phillips, SM, Reznik, E, Sanchez-Vega, F, Sander, C, Schultz, N, Sheridan, R, Sumer, SO, Sun, Y, Taylor, BS, Wang, J, Zhang, H, Anur, P, Peto, M, Spellman, P, Benz, C, Stuart, JM, Wong, CK, Yau, C, Hayes, DN, Parker, JS, Wilkerson, MD, Ally, A, Balasundaram, M, Bowlby, R, Brooks, D, Carlsen, R, Chuah, E, Dhalla, N, Holt, R, Jones, SJM, Kasaian, K, Lee, D, Ma, Y, Marra, MA, Mayo, M, Moore, RA, Mungall, AJ, Mungall, K, Robertson, AG, Sadeghi, S, Schein, JE, Sipahimalani, P, Tam, A, Thiessen, N, Tse, K, Wong, T, Berger, AC, Beroukhim, R, Cherniack, AD, Cibulskis, C, Gabriel, SB, Gao, GF, Ha, G, Meyerson, M, Schumacher, SE, Shih, J, Kucherlapati, MH, Kucherlapati, RS, Baylin, S, Cope, L, Danilova, L, Bootwalla, MS, Lai, PH, Maglinte, DT, Van Den Berg, DJ, Weisenberger, DJ, Auman, JT, Balu, S, Bodenheimer, T, Fan, C, Hoadley, KA, Hoyle, AP, Jefferys, SR, Jones, CD, Meng, S, Mieczkowski, PA, Mose, LE, Perou, AH, Perou, CM, Roach, J, Shi, Y, Simons, JV, Skelly, T, Soloway, MG, Tan, D, Veluvolu, U, Fan, H, Hinoue, T, Laird, PW, Shen, H, Zhou, W, Bellair, M, Chang, K, Covington, K, Creighton, CJ, Dinh, H, Doddapaneni, H, Donehower, LA, Drummond, J, Gibbs, RA, Glenn, R, Hale, W, Han, Y, Hu, J, Korchina, V, Lee, S, Lewis, L, Li, W, Liu, X, Morgan, M, Morton, D, Muzny, D, Santibanez, J, Sheth, M, Shinbrot, E, Wang, L, Wang, M, Wheeler, DA, Xi, L, Zhao, F, Hess, J, Appelbaum, EL, Bailey, M, Cordes, MG, Ding, L, Fronick, CC, Fulton, LA, Fulton, RS, Kandoth, C, Mardis, ER, McLellan, MD, Miller, CA, Schmidt, HK, Wilson, RK, Crain, D, Curley, E, Gardner, J, Lau, K, Mallery, D, Morris, S, Paulauskis, J, Penny, R, Shelton, C, Shelton, T, Sherman, M, Thompson, E, Yena, P, Bowen, J, Gastier-Foster, JM, Gerken, M, Leraas, KM, Lichtenberg, TM, Ramirez, NC, Wise, L, Zmuda, E, Corcoran, N, Costello, T, Hovens, C, Carvalho, AL, de Carvalho, AC, Fregnani, JH, Longatto-Filho, A, Reis, RM, Scapulatempo-Neto, C, Silveira, HCS, Vidal, DO, Burnette, A, Eschbacher, J, Hermes, B, Noss, A, Singh, R, Anderson, ML, Castro, PD, Ittmann, M, Huntsman, D, Kohl, B, Le, X, Thorp, R, Andry, C, Duffy, ER, Lyadov, V, Paklina, O, Setdikova, G, Shabunin, A, Tavobilov, M, McPherson, C, Warnick, R, Berkowitz, R, Cramer, D, Feltmate, C, Horowitz, N, Kibel, A, Muto, M, Raut, CP, Malykh, A, Barnholtz-Sloan, JS, Barrett, W, Devine, K, Fulop, J, Ostrom, QT, Shimmel, K, Wolinsky, Y, Sloan, AE, De Rose, A, Giuliante, F, Goodman, M, Karlan, BY, Hagedorn, CH, Eckman, J, Harr, J, Myers, J, Tucker, K, Zach, LA, Deyarmin, B, Hu, H, Kvecher, L, Larson, C, Mural, RJ, Somiari, S, Vicha, A, Zelinka, T, Bennett, J, Iacocca, M, Rabeno, B, Swanson, P, Latour, M, Lacombe, L, Têtu, B, Bergeron, A, McGraw, M, Staugaitis, SM, Chabot, J, Hibshoosh, H, Sepulveda, A, Su, T, Wang, T, Potapova, O, Voronina, O, Desjardins, L, Mariani, O, Roman-Roman, S, Sastre, X, Stern, M-H, Cheng, F, Signoretti, S, Berchuck, A, Bigner, D, Lipp, E, Marks, J, McCall, S, McLendon, R, Secord, A, Sharp, A, Behera, M, Brat, DJ, Chen, A, Delman, K, Force, S, Khuri, F, Magliocca, K, Maithel, S, Olson, JJ, Owonikoko, T, Pickens, A, Ramalingam, S, Shin, DM, Sica, G, Van Meir, EG, Zhang, H, Eijckenboom, W, Gillis, A, Korpershoek, E, Looijenga, L, Oosterhuis, W, Stoop, H, van Kessel, KE, Zwarthoff, EC, Calatozzolo, C, Cuppini, L, Cuzzubbo, S, DiMeco, F, Finocchiaro, G, Mattei, L, Perin, A, Pollo, B, Chen, C, Houck, J, Lohavanichbutr, P, Hartmann, A, Stoehr, C, Stoehr, R, Taubert, H, Wach, S, Wullich, B, Kycler, W, Murawa, D, Wiznerowicz, M, Chung, K, Edenfield, WJ, Martin, J, Baudin, E, Bubley, G, Bueno, R, De Rienzo, A, Richards, WG, Kalkanis, S, Mikkelsen, T, Noushmehr, H, Scarpace, L, Girard, N, Aymerich, M, Campo, E, Giné, E, Guillermo, AL, Van Bang, N, Hanh, PT, Phu, BD, Tang, Y, Colman, H, Evason, K, Dottino, PR, Martignetti, JA, Gabra, H, Juhl, H, Akeredolu, T, Stepa, S, Hoon, D, Ahn, K, Kang, KJ, Beuschlein, F, Breggia, A, Birrer, M, Bell, D, Borad, M, Bryce, AH, Castle, E, Chandan, V, Cheville, J, Copland, JA, Farnell, M, Flotte, T, Giama, N, Ho, T, Kendrick, M, Kocher, J-P, Kopp, K, Moser, C, Nagorney, D, O’Brien, D, O’Neill, BP, Patel, T, Petersen, G, Que, F, Rivera, M, Roberts, L, Smallridge, R, Smyrk, T, Stanton, M, Thompson, RH, Torbenson, M, Yang, JD, Zhang, L, Brimo, F, Ajani, JA, Gonzalez, AMA, Behrens, C, Bondaruk, J, Broaddus, R, Czerniak, B, Esmaeli, B, Fujimoto, J, Gershenwald, J, Guo, C, Lazar, AJ, Logothetis, C, Meric-Bernstam, F, Moran, C, Ramondetta, L, Rice, D, Sood, A, Tamboli, P, Thompson, T, Troncoso, P, Tsao, A, Wistuba, I, Carter, C, Haydu, L, Hersey, P, Jakrot, V, Kakavand, H, Kefford, R, Lee, K, Long, G, Mann, G, Quinn, M, Saw, R, Scolyer, R, Shannon, K, Spillane, A, Stretch, J, Synott, M, Thompson, J, Wilmott, J, Al-Ahmadie, H, Chan, TA, Ghossein, R, Gopalan, A, Levine, DA, Reuter, V, and Singer, S et al.. "Pan-Cancer Analysis of lncRNA Regulation Supports Their Targeting of Cancer Genes in Each Tumor Context." Cell Reports 23.1 (April 2018): 297-312.e12.
Source
crossref
Published In
Cell Reports
Volume
23
Issue
1
Publish Date
2018
Start Page
297
End Page
312.e12
DOI
10.1016/j.celrep.2018.03.064

Driver Fusions and Their Implications in the Development and Treatment of Human Cancers

Authors
Gao, Q; Liang, W-W; Foltz, SM; Mutharasu, G; Jayasinghe, RG; Cao, S; Liao, W-W; Reynolds, SM; Wyczalkowski, MA; Yao, L; Yu, L; Sun, SQ; Chen, K; Lazar, AJ; Fields, RC; Wendl, MC; Van Tine, BA; Vij, R; Chen, F; Nykter, M; Shmulevich, I; Ding, L; Caesar-Johnson, SJ; Demchok, JA; Felau, I; Kasapi, M; Ferguson, ML; Hutter, CM; Sofia, HJ; Tarnuzzer, R; Wang, Z; Yang, L; Zenklusen, JC; Zhang, JJ; Chudamani, S; Liu, J; Lolla, L; Naresh, R; Pihl, T; Sun, Q; Wan, Y; Wu, Y; Cho, J; DeFreitas, T; Frazer, S; Gehlenborg, N; Getz, G; Heiman, DI; Kim, J; Lawrence, MS; Lin, P; Meier, S; Noble, MS; Saksena, G; Voet, D; Zhang, H; Bernard, B; Chambwe, N; Dhankani, V; Knijnenburg, T; Kramer, R; Leinonen, K; Liu, Y; Miller, M; Reynolds, S; Thorsson, V; Zhang, W; Akbani, R; Broom, BM; Hegde, AM; Ju, Z; Kanchi, RS; Korkut, A; Li, J; Liang, H; Ling, S; Liu, W; Lu, Y; Mills, GB; Ng, K-S; Rao, A; Ryan, M; Wang, J; Weinstein, JN; Zhang, J; Abeshouse, A; Armenia, J; Chakravarty, D; Chatila, WK; de Bruijn, I; Gao, J; Gross, BE; Heins, ZJ; Kundra, R; La, K; Ladanyi, M; Luna, A; Nissan, MG; Ochoa, A; Phillips, SM; Reznik, E; Sanchez-Vega, F; Sander, C; Schultz, N; Sheridan, R; Sumer, SO; Sun, Y; Taylor, BS; Wang, J; Zhang, H; Anur, P; Peto, M; Spellman, P; Benz, C; Stuart, JM; Wong, CK; Yau, C; Hayes, DN; Parker, JS; Wilkerson, MD; Ally, A; Balasundaram, M; Bowlby, R; Brooks, D; Carlsen, R; Chuah, E; Dhalla, N; Holt, R; Jones, SJM; Kasaian, K; Lee, D; Ma, Y; Marra, MA; Mayo, M; Moore, RA; Mungall, AJ; Mungall, K; Robertson, AG; Sadeghi, S; Schein, JE; Sipahimalani, P; Tam, A; Thiessen, N; Tse, K; Wong, T; Berger, AC; Beroukhim, R; Cherniack, AD; Cibulskis, C; Gabriel, SB; Gao, GF; Ha, G; Meyerson, M; Schumacher, SE; Shih, J; Kucherlapati, MH; Kucherlapati, RS; Baylin, S; Cope, L; Danilova, L; Bootwalla, MS; Lai, PH; Maglinte, DT; Van Den Berg, DJ; Weisenberger, DJ; Auman, JT; Balu, S; Bodenheimer, T; Fan, C; Hoadley, KA; Hoyle, AP; Jefferys, SR; Jones, CD; Meng, S; Mieczkowski, PA; Mose, LE; Perou, AH; Perou, CM; Roach, J; Shi, Y; Simons, JV; Skelly, T; Soloway, MG; Tan, D; Veluvolu, U; Fan, H; Hinoue, T; Laird, PW; Shen, H; Zhou, W; Bellair, M; Chang, K; Covington, K; Creighton, CJ; Dinh, H; Doddapaneni, H; Donehower, LA; Drummond, J; Gibbs, RA; Glenn, R; Hale, W; Han, Y; Hu, J; Korchina, V; Lee, S; Lewis, L; Li, W; Liu, X; Morgan, M; Morton, D; Muzny, D; Santibanez, J; Sheth, M; Shinbrot, E; Wang, L; Wang, M; Wheeler, DA; Xi, L; Zhao, F; Hess, J; Appelbaum, EL; Bailey, M; Cordes, MG; Fronick, CC; Fulton, LA; Fulton, RS; Kandoth, C; Mardis, ER; McLellan, MD; Miller, CA; Schmidt, HK; Wilson, RK; Crain, D; Curley, E; Gardner, J; Lau, K; Mallery, D; Morris, S; Paulauskis, J; Penny, R; Shelton, C; Shelton, T; Sherman, M; Thompson, E; Yena, P; Bowen, J; Gastier-Foster, JM; Gerken, M; Leraas, KM; Lichtenberg, TM; Ramirez, NC; Wise, L; Zmuda, E; Corcoran, N; Costello, T; Hovens, C; Carvalho, AL; de Carvalho, AC; Fregnani, JH; Longatto-Filho, A; Reis, RM; Scapulatempo-Neto, C; Silveira, HCS; Vidal, DO; Burnette, A; Eschbacher, J; Hermes, B; Noss, A; Singh, R; Anderson, ML; Castro, PD; Ittmann, M; Huntsman, D; Kohl, B; Le, X; Thorp, R; Andry, C; Duffy, ER; Lyadov, V; Paklina, O; Setdikova, G; Shabunin, A; Tavobilov, M; McPherson, C; Warnick, R; Berkowitz, R; Cramer, D; Feltmate, C; Horowitz, N; Kibel, A; Muto, M; Raut, CP; Malykh, A; Barnholtz-Sloan, JS; Barrett, W; Devine, K; Fulop, J; Ostrom, QT; Shimmel, K; Wolinsky, Y; Sloan, AE; De Rose, A; Giuliante, F; Goodman, M; Karlan, BY; Hagedorn, CH; Eckman, J; Harr, J; Myers, J; Tucker, K; Zach, LA; Deyarmin, B; Hu, H; Kvecher, L; Larson, C; Mural, RJ; Somiari, S; Vicha, A; Zelinka, T; Bennett, J; Iacocca, M; Rabeno, B; Swanson, P; Latour, M; Lacombe, L; Têtu, B; Bergeron, A; McGraw, M; Staugaitis, SM; Chabot, J; Hibshoosh, H; Sepulveda, A; Su, T; Wang, T; Potapova, O; Voronina, O; Desjardins, L; Mariani, O; Roman-Roman, S; Sastre, X; Stern, M-H; Cheng, F; Signoretti, S; Berchuck, A; Bigner, D; Lipp, E; Marks, J; McCall, S; McLendon, R; Secord, A; Sharp, A; Behera, M; Brat, DJ; Chen, A; Delman, K; Force, S; Khuri, F; Magliocca, K; Maithel, S; Olson, JJ; Owonikoko, T; Pickens, A; Ramalingam, S; Shin, DM; Sica, G; Van Meir, EG; Zhang, H; Eijckenboom, W; Gillis, A; Korpershoek, E; Looijenga, L; Oosterhuis, W; Stoop, H; van Kessel, KE; Zwarthoff, EC; Calatozzolo, C; Cuppini, L; Cuzzubbo, S; DiMeco, F; Finocchiaro, G; Mattei, L; Perin, A; Pollo, B; Chen, C; Houck, J; Lohavanichbutr, P; Hartmann, A; Stoehr, C; Stoehr, R; Taubert, H; Wach, S; Wullich, B; Kycler, W; Murawa, D; Wiznerowicz, M; Chung, K; Edenfield, WJ; Martin, J; Baudin, E; Bubley, G; Bueno, R; De Rienzo, A; Richards, WG; Kalkanis, S; Mikkelsen, T; Noushmehr, H; Scarpace, L; Girard, N; Aymerich, M; Campo, E; Giné, E; Guillermo, AL; Van Bang, N; Hanh, PT; Phu, BD; Tang, Y; Colman, H; Evason, K; Dottino, PR; Martignetti, JA; Gabra, H; Juhl, H; Akeredolu, T; Stepa, S; Hoon, D; Ahn, K; Kang, KJ; Beuschlein, F; Breggia, A; Birrer, M; Bell, D; Borad, M; Bryce, AH; Castle, E; Chandan, V; Cheville, J; Copland, JA; Farnell, M; Flotte, T; Giama, N; Ho, T; Kendrick, M; Kocher, J-P; Kopp, K; Moser, C; Nagorney, D; O’Brien, D; O’Neill, BP; Patel, T; Petersen, G; Que, F; Rivera, M; Roberts, L; Smallridge, R; Smyrk, T; Stanton, M; Thompson, RH; Torbenson, M; Yang, JD; Zhang, L; Brimo, F; Ajani, JA; Gonzalez, AMA; Behrens, C; Bondaruk, J; Broaddus, R; Czerniak, B; Esmaeli, B; Fujimoto, J; Gershenwald, J; Guo, C; Logothetis, C; Meric-Bernstam, F; Moran, C; Ramondetta, L; Rice, D; Sood, A; Tamboli, P; Thompson, T; Troncoso, P; Tsao, A; Wistuba, I; Carter, C; Haydu, L; Hersey, P; Jakrot, V; Kakavand, H; Kefford, R; Lee, K; Long, G; Mann, G; Quinn, M; Saw, R; Scolyer, R; Shannon, K; Spillane, A; Stretch, J; Synott, M; Thompson, J; Wilmott, J et al.
MLA Citation
Gao, Q, Liang, W-W, Foltz, SM, Mutharasu, G, Jayasinghe, RG, Cao, S, Liao, W-W, Reynolds, SM, Wyczalkowski, MA, Yao, L, Yu, L, Sun, SQ, Chen, K, Lazar, AJ, Fields, RC, Wendl, MC, Van Tine, BA, Vij, R, Chen, F, Nykter, M, Shmulevich, I, Ding, L, Caesar-Johnson, SJ, Demchok, JA, Felau, I, Kasapi, M, Ferguson, ML, Hutter, CM, Sofia, HJ, Tarnuzzer, R, Wang, Z, Yang, L, Zenklusen, JC, Zhang, JJ, Chudamani, S, Liu, J, Lolla, L, Naresh, R, Pihl, T, Sun, Q, Wan, Y, Wu, Y, Cho, J, DeFreitas, T, Frazer, S, Gehlenborg, N, Getz, G, Heiman, DI, Kim, J, Lawrence, MS, Lin, P, Meier, S, Noble, MS, Saksena, G, Voet, D, Zhang, H, Bernard, B, Chambwe, N, Dhankani, V, Knijnenburg, T, Kramer, R, Leinonen, K, Liu, Y, Miller, M, Reynolds, S, Thorsson, V, Zhang, W, Akbani, R, Broom, BM, Hegde, AM, Ju, Z, Kanchi, RS, Korkut, A, Li, J, Liang, H, Ling, S, Liu, W, Lu, Y, Mills, GB, Ng, K-S, Rao, A, Ryan, M, Wang, J, Weinstein, JN, Zhang, J, Abeshouse, A, Armenia, J, Chakravarty, D, Chatila, WK, de Bruijn, I, Gao, J, Gross, BE, Heins, ZJ, Kundra, R, La, K, Ladanyi, M, Luna, A, Nissan, MG, Ochoa, A, Phillips, SM, Reznik, E, Sanchez-Vega, F, Sander, C, Schultz, N, Sheridan, R, Sumer, SO, Sun, Y, Taylor, BS, Wang, J, Zhang, H, Anur, P, Peto, M, Spellman, P, Benz, C, Stuart, JM, Wong, CK, Yau, C, Hayes, DN, Parker, JS, Wilkerson, MD, Ally, A, Balasundaram, M, Bowlby, R, Brooks, D, Carlsen, R, Chuah, E, Dhalla, N, Holt, R, Jones, SJM, Kasaian, K, Lee, D, Ma, Y, Marra, MA, Mayo, M, Moore, RA, Mungall, AJ, Mungall, K, Robertson, AG, Sadeghi, S, Schein, JE, Sipahimalani, P, Tam, A, Thiessen, N, Tse, K, Wong, T, Berger, AC, Beroukhim, R, Cherniack, AD, Cibulskis, C, Gabriel, SB, Gao, GF, Ha, G, Meyerson, M, Schumacher, SE, Shih, J, Kucherlapati, MH, Kucherlapati, RS, Baylin, S, Cope, L, Danilova, L, Bootwalla, MS, Lai, PH, Maglinte, DT, Van Den Berg, DJ, Weisenberger, DJ, Auman, JT, Balu, S, Bodenheimer, T, Fan, C, Hoadley, KA, Hoyle, AP, Jefferys, SR, Jones, CD, Meng, S, Mieczkowski, PA, Mose, LE, Perou, AH, Perou, CM, Roach, J, Shi, Y, Simons, JV, Skelly, T, Soloway, MG, Tan, D, Veluvolu, U, Fan, H, Hinoue, T, Laird, PW, Shen, H, Zhou, W, Bellair, M, Chang, K, Covington, K, Creighton, CJ, Dinh, H, Doddapaneni, H, Donehower, LA, Drummond, J, Gibbs, RA, Glenn, R, Hale, W, Han, Y, Hu, J, Korchina, V, Lee, S, Lewis, L, Li, W, Liu, X, Morgan, M, Morton, D, Muzny, D, Santibanez, J, Sheth, M, Shinbrot, E, Wang, L, Wang, M, Wheeler, DA, Xi, L, Zhao, F, Hess, J, Appelbaum, EL, Bailey, M, Cordes, MG, Fronick, CC, Fulton, LA, Fulton, RS, Kandoth, C, Mardis, ER, McLellan, MD, Miller, CA, Schmidt, HK, Wilson, RK, Crain, D, Curley, E, Gardner, J, Lau, K, Mallery, D, Morris, S, Paulauskis, J, Penny, R, Shelton, C, Shelton, T, Sherman, M, Thompson, E, Yena, P, Bowen, J, Gastier-Foster, JM, Gerken, M, Leraas, KM, Lichtenberg, TM, Ramirez, NC, Wise, L, Zmuda, E, Corcoran, N, Costello, T, Hovens, C, Carvalho, AL, de Carvalho, AC, Fregnani, JH, Longatto-Filho, A, Reis, RM, Scapulatempo-Neto, C, Silveira, HCS, Vidal, DO, Burnette, A, Eschbacher, J, Hermes, B, Noss, A, Singh, R, Anderson, ML, Castro, PD, Ittmann, M, Huntsman, D, Kohl, B, Le, X, Thorp, R, Andry, C, Duffy, ER, Lyadov, V, Paklina, O, Setdikova, G, Shabunin, A, Tavobilov, M, McPherson, C, Warnick, R, Berkowitz, R, Cramer, D, Feltmate, C, Horowitz, N, Kibel, A, Muto, M, Raut, CP, Malykh, A, Barnholtz-Sloan, JS, Barrett, W, Devine, K, Fulop, J, Ostrom, QT, Shimmel, K, Wolinsky, Y, Sloan, AE, De Rose, A, Giuliante, F, Goodman, M, Karlan, BY, Hagedorn, CH, Eckman, J, Harr, J, Myers, J, Tucker, K, Zach, LA, Deyarmin, B, Hu, H, Kvecher, L, Larson, C, Mural, RJ, Somiari, S, Vicha, A, Zelinka, T, Bennett, J, Iacocca, M, Rabeno, B, Swanson, P, Latour, M, Lacombe, L, Têtu, B, Bergeron, A, McGraw, M, Staugaitis, SM, Chabot, J, Hibshoosh, H, Sepulveda, A, Su, T, Wang, T, Potapova, O, Voronina, O, Desjardins, L, Mariani, O, Roman-Roman, S, Sastre, X, Stern, M-H, Cheng, F, Signoretti, S, Berchuck, A, Bigner, D, Lipp, E, Marks, J, McCall, S, McLendon, R, Secord, A, Sharp, A, Behera, M, Brat, DJ, Chen, A, Delman, K, Force, S, Khuri, F, Magliocca, K, Maithel, S, Olson, JJ, Owonikoko, T, Pickens, A, Ramalingam, S, Shin, DM, Sica, G, Van Meir, EG, Zhang, H, Eijckenboom, W, Gillis, A, Korpershoek, E, Looijenga, L, Oosterhuis, W, Stoop, H, van Kessel, KE, Zwarthoff, EC, Calatozzolo, C, Cuppini, L, Cuzzubbo, S, DiMeco, F, Finocchiaro, G, Mattei, L, Perin, A, Pollo, B, Chen, C, Houck, J, Lohavanichbutr, P, Hartmann, A, Stoehr, C, Stoehr, R, Taubert, H, Wach, S, Wullich, B, Kycler, W, Murawa, D, Wiznerowicz, M, Chung, K, Edenfield, WJ, Martin, J, Baudin, E, Bubley, G, Bueno, R, De Rienzo, A, Richards, WG, Kalkanis, S, Mikkelsen, T, Noushmehr, H, Scarpace, L, Girard, N, Aymerich, M, Campo, E, Giné, E, Guillermo, AL, Van Bang, N, Hanh, PT, Phu, BD, Tang, Y, Colman, H, Evason, K, Dottino, PR, Martignetti, JA, Gabra, H, Juhl, H, Akeredolu, T, Stepa, S, Hoon, D, Ahn, K, Kang, KJ, Beuschlein, F, Breggia, A, Birrer, M, Bell, D, Borad, M, Bryce, AH, Castle, E, Chandan, V, Cheville, J, Copland, JA, Farnell, M, Flotte, T, Giama, N, Ho, T, Kendrick, M, Kocher, J-P, Kopp, K, Moser, C, Nagorney, D, O’Brien, D, O’Neill, BP, Patel, T, Petersen, G, Que, F, Rivera, M, Roberts, L, Smallridge, R, Smyrk, T, Stanton, M, Thompson, RH, Torbenson, M, Yang, JD, Zhang, L, Brimo, F, Ajani, JA, Gonzalez, AMA, Behrens, C, Bondaruk, J, Broaddus, R, Czerniak, B, Esmaeli, B, Fujimoto, J, Gershenwald, J, Guo, C, Logothetis, C, Meric-Bernstam, F, Moran, C, Ramondetta, L, Rice, D, Sood, A, Tamboli, P, Thompson, T, Troncoso, P, Tsao, A, Wistuba, I, Carter, C, Haydu, L, Hersey, P, Jakrot, V, Kakavand, H, Kefford, R, Lee, K, Long, G, Mann, G, Quinn, M, Saw, R, Scolyer, R, Shannon, K, Spillane, A, Stretch, J, Synott, M, Thompson, J, and Wilmott, J et al.. "Driver Fusions and Their Implications in the Development and Treatment of Human Cancers." Cell Reports 23.1 (April 2018): 227-238.e3.
Source
crossref
Published In
Cell Reports
Volume
23
Issue
1
Publish Date
2018
Start Page
227
End Page
238.e3
DOI
10.1016/j.celrep.2018.03.050

Perspective on Oncogenic Processes at the End of the Beginning of Cancer Genomics

Authors
Ding, L; Bailey, MH; Porta-Pardo, E; Thorsson, V; Colaprico, A; Bertrand, D; Gibbs, DL; Weerasinghe, A; Huang, K-L; Tokheim, C; Cortés-Ciriano, I; Jayasinghe, R; Chen, F; Yu, L; Sun, S; Olsen, C; Kim, J; Taylor, AM; Cherniack, AD; Akbani, R; Suphavilai, C; Nagarajan, N; Stuart, JM; Mills, GB; Wyczalkowski, MA; Vincent, BG; Hutter, CM; Zenklusen, JC; Hoadley, KA; Wendl, MC; Shmulevich, L; Lazar, AJ; Wheeler, DA; Getz, G; Caesar-Johnson, SJ; Demchok, JA; Felau, I; Kasapi, M; Ferguson, ML; Sofia, HJ; Tarnuzzer, R; Wang, Z; Yang, L; Zenklusen, JC; Zhang, JJ; Chudamani, S; Liu, J; Lolla, L; Naresh, R; Pihl, T; Sun, Q; Wan, Y; Wu, Y; Cho, J; DeFreitas, T; Frazer, S; Gehlenborg, N; Heiman, DI; Lawrence, MS; Lin, P; Meier, S; Noble, MS; Saksena, G; Voet, D; Zhang, H; Bernard, B; Chambwe, N; Dhankani, V; Knijnenburg, T; Kramer, R; Leinonen, K; Liu, Y; Miller, M; Reynolds, S; Shmulevich, I; Zhang, W; Broom, BM; Hegde, AM; Ju, Z; Kanchi, RS; Korkut, A; Li, J; Liang, H; Ling, S; Liu, W; Lu, Y; Ng, K-S; Rao, A; Ryan, M; Wang, J; Weinstein, JN; Zhang, J; Abeshouse, A; Armenia, J; Chakravarty, D; Chatila, WK; de Bruijn, I; Gao, J; Gross, BE; Heins, ZJ; Kundra, R; La, K; Ladanyi, M; Luna, A; Nissan, MG; Ochoa, A; Phillips, SM; Reznik, E; Sanchez-Vega, F; Sander, C; Schultz, N; Sheridan, R; Sumer, SO; Sun, Y; Taylor, BS; Wang, J; Zhang, H; Anur, P; Peto, M; Spellman, P; Benz, C; Wong, CK; Yau, C; Hayes, DN; Parker, JS; Wilkerson, MD; Ally, A; Balasundaram, M; Bowlby, R; Brooks, D; Carlsen, R; Chuah, E; Dhalla, N; Holt, R; Jones, SJM; Kasaian, K; Lee, D; Ma, Y; Marra, MA; Mayo, M; Moore, RA; Mungall, AJ; Mungall, K; Robertson, AG; Sadeghi, S; Schein, JE; Sipahimalani, P; Tam, A; Thiessen, N; Tse, K; Wong, T; Berger, AC; Beroukhim, R; Cibulskis, C; Gabriel, SB; Gao, GF; Ha, G; Meyerson, M; Schumacher, SE; Shih, J; Kucherlapati, MH; Kucherlapati, RS; Baylin, S; Cope, L; Danilova, L; Bootwalla, MS; Lai, PH; Maglinte, DT; Van Den Berg, DJ; Weisenberger, DJ; Auman, JT; Balu, S; Bodenheimer, T; Fan, C; Hoyle, AP; Jefferys, SR; Jones, CD; Meng, S; Mieczkowski, PA; Mose, LE; Perou, AH; Perou, CM; Roach, J; Shi, Y; Simons, JV; Skelly, T; Soloway, MG; Tan, D; Veluvolu, U; Fan, H; Hinoue, T; Laird, PW; Shen, H; Zhou, W; Bellair, M; Chang, K; Covington, K; Creighton, CJ; Dinh, H; Doddapaneni, H; Donehower, LA; Drummond, J; Gibbs, RA; Glenn, R; Hale, W; Han, Y; Hu, J; Korchina, V; Lee, S; Lewis, L; Li, W; Liu, X; Morgan, M; Morton, D; Muzny, D; Santibanez, J; Sheth, M; Shinbrot, E; Wang, L; Wang, M; Xi, L; Zhao, F; Hess, J; Appelbaum, EL; Bailey, M; Cordes, MG; Fronick, CC; Fulton, LA; Fulton, RS; Kandoth, C; Mardis, ER; McLellan, MD; Miller, CA; Schmidt, HK; Wilson, RK; Crain, D; Curley, E; Gardner, J; Lau, K; Mallery, D; Morris, S; Paulauskis, J; Penny, R; Shelton, C; Shelton, T; Sherman, M; Thompson, E; Yena, P; Bowen, J; Gastier-Foster, JM; Gerken, M; Leraas, KM; Lichtenberg, TM; Ramirez, NC; Wise, L; Zmuda, E; Corcoran, N; Costello, T; Hovens, C; Carvalho, AL; de Carvalho, AC; Fregnani, JH; Longatto-Filho, A; Reis, RM; Scapulatempo-Neto, C; Silveira, HCS; Vidal, DO; Burnette, A; Eschbacher, J; Hermes, B; Noss, A; Singh, R; Anderson, ML; Castro, PD; Ittmann, M; Huntsman, D; Kohl, B; Le, X; Thorp, R; Andry, C; Duffy, ER; Lyadov, V; Paklina, O; Setdikova, G; Shabunin, A; Tavobilov, M; McPherson, C; Warnick, R; Berkowitz, R; Cramer, D; Feltmate, C; Horowitz, N; Kibel, A; Muto, M; Raut, CP; Malykh, A; Barnholtz-Sloan, JS; Barrett, W; Devine, K; Fulop, J; Ostrom, QT; Shimmel, K; Wolinsky, Y; Sloan, AE; De Rose, A; Giuliante, F; Goodman, M; Karlan, BY; Hagedorn, CH; Eckman, J; Harr, J; Myers, J; Tucker, K; Zach, LA; Deyarmin, B; Hu, H; Kvecher, L; Larson, C; Mural, RJ; Somiari, S; Vicha, A; Zelinka, T; Bennett, J; Iacocca, M; Rabeno, B; Swanson, P; Latour, M; Lacombe, L; Têtu, B; Bergeron, A; McGraw, M; Staugaitis, SM; Chabot, J; Hibshoosh, H; Sepulveda, A; Su, T; Wang, T; Potapova, O; Voronina, O; Desjardins, L; Mariani, O; Roman-Roman, S; Sastre, X; Stern, M-H; Cheng, F; Signoretti, S; Berchuck, A; Bigner, D; Lipp, E; Marks, J; McCall, S; McLendon, R; Secord, A; Sharp, A; Behera, M; Brat, DJ; Chen, A; Delman, K; Force, S; Khuri, F; Magliocca, K; Maithel, S; Olson, JJ; Owonikoko, T; Pickens, A; Ramalingam, S; Shin, DM; Sica, G; Van Meir, EG; Zhang, H; Eijckenboom, W; Gillis, A; Korpershoek, E; Looijenga, L; Oosterhuis, W; Stoop, H; van Kessel, KE; Zwarthoff, EC; Calatozzolo, C; Cuppini, L; Cuzzubbo, S; DiMeco, F; Finocchiaro, G; Mattei, L; Perin, A; Pollo, B; Chen, C; Houck, J; Lohavanichbutr, P; Hartmann, A; Stoehr, C; Stoehr, R; Taubert, H; Wach, S; Wullich, B; Kycler, W; Murawa, D; Wiznerowicz, M; Chung, K; Edenfield, WJ; Martin, J; Baudin, E; Bubley, G; Bueno, R; De Rienzo, A; Richards, WG; Kalkanis, S; Mikkelsen, T; Noushmehr, H; Scarpace, L; Girard, N; Aymerich, M; Campo, E; Giné, E; Guillermo, AL; Van Bang, N; Hanh, PT; Phu, BD; Tang, Y; Colman, H; Evason, K; Dottino, PR; Martignetti, JA; Gabra, H; Juhl, H; Akeredolu, T; Stepa, S; Hoon, D; Ahn, K; Kang, KJ; Beuschlein, F; Breggia, A; Birrer, M; Bell, D; Borad, M; Bryce, AH; Castle, E; Chandan, V; Cheville, J; Copland, JA; Farnell, M; Flotte, T; Giama, N; Ho, T; Kendrick, M; Kocher, J-P; Kopp, K; Moser, C; Nagorney, D; O’Brien, D; O’Neill, BP; Patel, T; Petersen, G; Que, F; Rivera, M; Roberts, L; Smallridge, R; Smyrk, T; Stanton, M; Thompson, RH; Torbenson, M; Yang, JD; Zhang, L; Brimo, F; Ajani, JA; Gonzalez, AMA; Behrens, C; Bondaruk, J; Broaddus, R; Czerniak, B; Esmaeli, B; Fujimoto, J; Gershenwald, J; Guo, C; Logothetis, C; Meric-Bernstam, F; Moran, C; Ramondetta, L; Rice, D; Sood, A; Tamboli, P; Thompson, T; Troncoso, P; Tsao, A; Wistuba, I; Carter, C; Haydu, L; Hersey, P; Jakrot, V; Kakavand, H; Kefford, R; Lee, K; Long, G; Mann, G; Quinn, M; Saw, R; Scolyer, R; Shannon, K; Spillane, A; Stretch, J et al.
MLA Citation
Ding, L, Bailey, MH, Porta-Pardo, E, Thorsson, V, Colaprico, A, Bertrand, D, Gibbs, DL, Weerasinghe, A, Huang, K-L, Tokheim, C, Cortés-Ciriano, I, Jayasinghe, R, Chen, F, Yu, L, Sun, S, Olsen, C, Kim, J, Taylor, AM, Cherniack, AD, Akbani, R, Suphavilai, C, Nagarajan, N, Stuart, JM, Mills, GB, Wyczalkowski, MA, Vincent, BG, Hutter, CM, Zenklusen, JC, Hoadley, KA, Wendl, MC, Shmulevich, L, Lazar, AJ, Wheeler, DA, Getz, G, Caesar-Johnson, SJ, Demchok, JA, Felau, I, Kasapi, M, Ferguson, ML, Sofia, HJ, Tarnuzzer, R, Wang, Z, Yang, L, Zenklusen, JC, Zhang, JJ, Chudamani, S, Liu, J, Lolla, L, Naresh, R, Pihl, T, Sun, Q, Wan, Y, Wu, Y, Cho, J, DeFreitas, T, Frazer, S, Gehlenborg, N, Heiman, DI, Lawrence, MS, Lin, P, Meier, S, Noble, MS, Saksena, G, Voet, D, Zhang, H, Bernard, B, Chambwe, N, Dhankani, V, Knijnenburg, T, Kramer, R, Leinonen, K, Liu, Y, Miller, M, Reynolds, S, Shmulevich, I, Zhang, W, Broom, BM, Hegde, AM, Ju, Z, Kanchi, RS, Korkut, A, Li, J, Liang, H, Ling, S, Liu, W, Lu, Y, Ng, K-S, Rao, A, Ryan, M, Wang, J, Weinstein, JN, Zhang, J, Abeshouse, A, Armenia, J, Chakravarty, D, Chatila, WK, de Bruijn, I, Gao, J, Gross, BE, Heins, ZJ, Kundra, R, La, K, Ladanyi, M, Luna, A, Nissan, MG, Ochoa, A, Phillips, SM, Reznik, E, Sanchez-Vega, F, Sander, C, Schultz, N, Sheridan, R, Sumer, SO, Sun, Y, Taylor, BS, Wang, J, Zhang, H, Anur, P, Peto, M, Spellman, P, Benz, C, Wong, CK, Yau, C, Hayes, DN, Parker, JS, Wilkerson, MD, Ally, A, Balasundaram, M, Bowlby, R, Brooks, D, Carlsen, R, Chuah, E, Dhalla, N, Holt, R, Jones, SJM, Kasaian, K, Lee, D, Ma, Y, Marra, MA, Mayo, M, Moore, RA, Mungall, AJ, Mungall, K, Robertson, AG, Sadeghi, S, Schein, JE, Sipahimalani, P, Tam, A, Thiessen, N, Tse, K, Wong, T, Berger, AC, Beroukhim, R, Cibulskis, C, Gabriel, SB, Gao, GF, Ha, G, Meyerson, M, Schumacher, SE, Shih, J, Kucherlapati, MH, Kucherlapati, RS, Baylin, S, Cope, L, Danilova, L, Bootwalla, MS, Lai, PH, Maglinte, DT, Van Den Berg, DJ, Weisenberger, DJ, Auman, JT, Balu, S, Bodenheimer, T, Fan, C, Hoyle, AP, Jefferys, SR, Jones, CD, Meng, S, Mieczkowski, PA, Mose, LE, Perou, AH, Perou, CM, Roach, J, Shi, Y, Simons, JV, Skelly, T, Soloway, MG, Tan, D, Veluvolu, U, Fan, H, Hinoue, T, Laird, PW, Shen, H, Zhou, W, Bellair, M, Chang, K, Covington, K, Creighton, CJ, Dinh, H, Doddapaneni, H, Donehower, LA, Drummond, J, Gibbs, RA, Glenn, R, Hale, W, Han, Y, Hu, J, Korchina, V, Lee, S, Lewis, L, Li, W, Liu, X, Morgan, M, Morton, D, Muzny, D, Santibanez, J, Sheth, M, Shinbrot, E, Wang, L, Wang, M, Xi, L, Zhao, F, Hess, J, Appelbaum, EL, Bailey, M, Cordes, MG, Fronick, CC, Fulton, LA, Fulton, RS, Kandoth, C, Mardis, ER, McLellan, MD, Miller, CA, Schmidt, HK, Wilson, RK, Crain, D, Curley, E, Gardner, J, Lau, K, Mallery, D, Morris, S, Paulauskis, J, Penny, R, Shelton, C, Shelton, T, Sherman, M, Thompson, E, Yena, P, Bowen, J, Gastier-Foster, JM, Gerken, M, Leraas, KM, Lichtenberg, TM, Ramirez, NC, Wise, L, Zmuda, E, Corcoran, N, Costello, T, Hovens, C, Carvalho, AL, de Carvalho, AC, Fregnani, JH, Longatto-Filho, A, Reis, RM, Scapulatempo-Neto, C, Silveira, HCS, Vidal, DO, Burnette, A, Eschbacher, J, Hermes, B, Noss, A, Singh, R, Anderson, ML, Castro, PD, Ittmann, M, Huntsman, D, Kohl, B, Le, X, Thorp, R, Andry, C, Duffy, ER, Lyadov, V, Paklina, O, Setdikova, G, Shabunin, A, Tavobilov, M, McPherson, C, Warnick, R, Berkowitz, R, Cramer, D, Feltmate, C, Horowitz, N, Kibel, A, Muto, M, Raut, CP, Malykh, A, Barnholtz-Sloan, JS, Barrett, W, Devine, K, Fulop, J, Ostrom, QT, Shimmel, K, Wolinsky, Y, Sloan, AE, De Rose, A, Giuliante, F, Goodman, M, Karlan, BY, Hagedorn, CH, Eckman, J, Harr, J, Myers, J, Tucker, K, Zach, LA, Deyarmin, B, Hu, H, Kvecher, L, Larson, C, Mural, RJ, Somiari, S, Vicha, A, Zelinka, T, Bennett, J, Iacocca, M, Rabeno, B, Swanson, P, Latour, M, Lacombe, L, Têtu, B, Bergeron, A, McGraw, M, Staugaitis, SM, Chabot, J, Hibshoosh, H, Sepulveda, A, Su, T, Wang, T, Potapova, O, Voronina, O, Desjardins, L, Mariani, O, Roman-Roman, S, Sastre, X, Stern, M-H, Cheng, F, Signoretti, S, Berchuck, A, Bigner, D, Lipp, E, Marks, J, McCall, S, McLendon, R, Secord, A, Sharp, A, Behera, M, Brat, DJ, Chen, A, Delman, K, Force, S, Khuri, F, Magliocca, K, Maithel, S, Olson, JJ, Owonikoko, T, Pickens, A, Ramalingam, S, Shin, DM, Sica, G, Van Meir, EG, Zhang, H, Eijckenboom, W, Gillis, A, Korpershoek, E, Looijenga, L, Oosterhuis, W, Stoop, H, van Kessel, KE, Zwarthoff, EC, Calatozzolo, C, Cuppini, L, Cuzzubbo, S, DiMeco, F, Finocchiaro, G, Mattei, L, Perin, A, Pollo, B, Chen, C, Houck, J, Lohavanichbutr, P, Hartmann, A, Stoehr, C, Stoehr, R, Taubert, H, Wach, S, Wullich, B, Kycler, W, Murawa, D, Wiznerowicz, M, Chung, K, Edenfield, WJ, Martin, J, Baudin, E, Bubley, G, Bueno, R, De Rienzo, A, Richards, WG, Kalkanis, S, Mikkelsen, T, Noushmehr, H, Scarpace, L, Girard, N, Aymerich, M, Campo, E, Giné, E, Guillermo, AL, Van Bang, N, Hanh, PT, Phu, BD, Tang, Y, Colman, H, Evason, K, Dottino, PR, Martignetti, JA, Gabra, H, Juhl, H, Akeredolu, T, Stepa, S, Hoon, D, Ahn, K, Kang, KJ, Beuschlein, F, Breggia, A, Birrer, M, Bell, D, Borad, M, Bryce, AH, Castle, E, Chandan, V, Cheville, J, Copland, JA, Farnell, M, Flotte, T, Giama, N, Ho, T, Kendrick, M, Kocher, J-P, Kopp, K, Moser, C, Nagorney, D, O’Brien, D, O’Neill, BP, Patel, T, Petersen, G, Que, F, Rivera, M, Roberts, L, Smallridge, R, Smyrk, T, Stanton, M, Thompson, RH, Torbenson, M, Yang, JD, Zhang, L, Brimo, F, Ajani, JA, Gonzalez, AMA, Behrens, C, Bondaruk, J, Broaddus, R, Czerniak, B, Esmaeli, B, Fujimoto, J, Gershenwald, J, Guo, C, Logothetis, C, Meric-Bernstam, F, Moran, C, Ramondetta, L, Rice, D, Sood, A, Tamboli, P, Thompson, T, Troncoso, P, Tsao, A, Wistuba, I, Carter, C, Haydu, L, Hersey, P, Jakrot, V, Kakavand, H, Kefford, R, Lee, K, Long, G, Mann, G, Quinn, M, Saw, R, Scolyer, R, Shannon, K, Spillane, A, and Stretch, J et al.. "Perspective on Oncogenic Processes at the End of the Beginning of Cancer Genomics." Cell 173.2 (April 2018): 305-320.e10.
Source
crossref
Published In
Cell
Volume
173
Issue
2
Publish Date
2018
Start Page
305
End Page
320.e10
DOI
10.1016/j.cell.2018.03.033

Cell-of-Origin Patterns Dominate the Molecular Classification of 10,000 Tumors from 33 Types of Cancer

Authors
Hoadley, KA; Yau, C; Hinoue, T; Wolf, DM; Lazar, AJ; Drill, E; Shen, R; Taylor, AM; Cherniack, AD; Thorsson, V; Akbani, R; Bowlby, R; Wong, CK; Wiznerowicz, M; Sanchez-Vega, F; Robertson, AG; Schneider, BG; Lawrence, MS; Noushmehr, H; Malta, TM; Stuart, JM; Benz, CC; Laird, PW; Caesar-Johnson, SJ; Demchok, JA; Felau, I; Kasapi, M; Ferguson, ML; Hutter, CM; Sofia, HJ; Tarnuzzer, R; Wang, Z; Yang, L; Zenklusen, JC; Zhang, JJ; Chudamani, S; Liu, J; Lolla, L; Naresh, R; Pihl, T; Sun, Q; Wan, Y; Wu, Y; Cho, J; DeFreitas, T; Frazer, S; Gehlenborg, N; Getz, G; Heiman, DI; Kim, J; Lin, P; Meier, S; Noble, MS; Saksena, G; Voet, D; Zhang, H; Bernard, B; Chambwe, N; Dhankani, V; Knijnenburg, T; Kramer, R; Leinonen, K; Liu, Y; Miller, M; Reynolds, S; Shmulevich, I; Thorsson, V; Zhang, W; Broom, BM; Hegde, AM; Ju, Z; Kanchi, RS; Korkut, A; Li, J; Liang, H; Ling, S; Liu, W; Lu, Y; Mills, GB; Ng, K-S; Rao, A; Ryan, M; Wang, J; Weinstein, JN; Zhang, J; Abeshouse, A; Armenia, J; Chakravarty, D; Chatila, WK; de Bruijn, I; Gao, J; Gross, BE; Heins, ZJ; Kundra, R; La, K; Ladanyi, M; Luna, A; Nissan, MG; Ochoa, A; Phillips, SM; Reznik, E; Sander, C; Schultz, N; Sheridan, R; Sumer, SO; Sun, Y; Taylor, BS; Wang, J; Zhang, H; Anur, P; Peto, M; Spellman, P; Benz, C; Hayes, DN; Parker, JS; Wilkerson, MD; Ally, A; Balasundaram, M; Brooks, D; Carlsen, R; Chuah, E; Dhalla, N; Holt, R; Jones, SJM; Kasaian, K; Lee, D; Ma, Y; Marra, MA; Mayo, M; Moore, RA; Mungall, AJ; Mungall, K; Sadeghi, S; Schein, JE; Sipahimalani, P; Tam, A; Thiessen, N; Tse, K; Wong, T; Berger, AC; Beroukhim, R; Cibulskis, C; Gabriel, SB; Gao, GF; Ha, G; Meyerson, M; Schumacher, SE; Shih, J; Kucherlapati, MH; Kucherlapati, RS; Baylin, S; Cope, L; Danilova, L; Bootwalla, MS; Lai, PH; Maglinte, DT; Van Den Berg, DJ; Weisenberger, DJ; Auman, JT; Balu, S; Bodenheimer, T; Fan, C; Hoyle, AP; Jefferys, SR; Jones, CD; Meng, S; Mieczkowski, PA; Mose, LE; Perou, AH; Perou, CM; Roach, J; Shi, Y; Simons, JV; Skelly, T; Soloway, MG; Tan, D; Veluvolu, U; Fan, H; Shen, H; Zhou, W; Bellair, M; Chang, K; Covington, K; Creighton, CJ; Dinh, H; Doddapaneni, H; Donehower, LA; Drummond, J; Gibbs, RA; Glenn, R; Hale, W; Han, Y; Hu, J; Korchina, V; Lee, S; Lewis, L; Li, W; Liu, X; Morgan, M; Morton, D; Muzny, D; Santibanez, J; Sheth, M; Shinbrot, E; Wang, L; Wang, M; Wheeler, DA; Xi, L; Zhao, F; Hess, J; Appelbaum, EL; Bailey, M; Cordes, MG; Ding, L; Fronick, CC; Fulton, LA; Fulton, RS; Kandoth, C; Mardis, ER; McLellan, MD; Miller, CA; Schmidt, HK; Wilson, RK; Crain, D; Curley, E; Gardner, J; Lau, K; Mallery, D; Morris, S; Paulauskis, J; Penny, R; Shelton, C; Shelton, T; Sherman, M; Thompson, E; Yena, P; Bowen, J; Gastier-Foster, JM; Gerken, M; Leraas, KM; Lichtenberg, TM; Ramirez, NC; Wise, L; Zmuda, E; Corcoran, N; Costello, T; Hovens, C; Carvalho, AL; de Carvalho, AC; Fregnani, JH; Longatto-Filho, A; Reis, RM; Scapulatempo-Neto, C; Silveira, HCS; Vidal, DO; Burnette, A; Eschbacher, J; Hermes, B; Noss, A; Singh, R; Anderson, ML; Castro, PD; Ittmann, M; Huntsman, D; Kohl, B; Le, X; Thorp, R; Andry, C; Duffy, ER; Lyadov, V; Paklina, O; Setdikova, G; Shabunin, A; Tavobilov, M; McPherson, C; Warnick, R; Berkowitz, R; Cramer, D; Feltmate, C; Horowitz, N; Kibel, A; Muto, M; Raut, CP; Malykh, A; Barnholtz-Sloan, JS; Barrett, W; Devine, K; Fulop, J; Ostrom, QT; Shimmel, K; Wolinsky, Y; Sloan, AE; De Rose, A; Giuliante, F; Goodman, M; Karlan, BY; Hagedorn, CH; Eckman, J; Harr, J; Myers, J; Tucker, K; Zach, LA; Deyarmin, B; Hu, H; Kvecher, L; Larson, C; Mural, RJ; Somiari, S; Vicha, A; Zelinka, T; Bennett, J; Iacocca, M; Rabeno, B; Swanson, P; Latour, M; Lacombe, L; Têtu, B; Bergeron, A; McGraw, M; Staugaitis, SM; Chabot, J; Hibshoosh, H; Sepulveda, A; Su, T; Wang, T; Potapova, O; Voronina, O; Desjardins, L; Mariani, O; Roman-Roman, S; Sastre, X; Stern, M-H; Cheng, F; Signoretti, S; Berchuck, A; Bigner, D; Lipp, E; Marks, J; McCall, S; McLendon, R; Secord, A; Sharp, A; Behera, M; Brat, DJ; Chen, A; Delman, K; Force, S; Khuri, F; Magliocca, K; Maithel, S; Olson, JJ; Owonikoko, T; Pickens, A; Ramalingam, S; Shin, DM; Sica, G; Van Meir, EG; Zhang, H; Eijckenboom, W; Gillis, A; Korpershoek, E; Looijenga, L; Oosterhuis, W; Stoop, H; van Kessel, KE; Zwarthoff, EC; Calatozzolo, C; Cuppini, L; Cuzzubbo, S; DiMeco, F; Finocchiaro, G; Mattei, L; Perin, A; Pollo, B; Chen, C; Houck, J; Lohavanichbutr, P; Hartmann, A; Stoehr, C; Stoehr, R; Taubert, H; Wach, S; Wullich, B; Kycler, W; Murawa, D; Chung, K; Edenfield, WJ; Martin, J; Baudin, E; Bubley, G; Bueno, R; De Rienzo, A; Richards, WG; Kalkanis, S; Mikkelsen, T; Scarpace, L; Girard, N; Aymerich, M; Campo, E; Giné, E; Guillermo, AL; Van Bang, N; Hanh, PT; Phu, BD; Tang, Y; Colman, H; Evason, K; Dottino, PR; Martignetti, JA; Gabra, H; Juhl, H; Akeredolu, T; Stepa, S; Hoon, D; Ahn, K; Kang, KJ; Beuschlein, F; Breggia, A; Birrer, M; Bell, D; Borad, M; Bryce, AH; Castle, E; Chandan, V; Cheville, J; Copland, JA; Farnell, M; Flotte, T; Giama, N; Ho, T; Kendrick, M; Kocher, J-P; Kopp, K; Moser, C; Nagorney, D; O’Brien, D; O’Neill, BP; Patel, T; Petersen, G; Que, F; Rivera, M; Roberts, L; Smallridge, R; Smyrk, T; Stanton, M; Thompson, RH; Torbenson, M; Yang, JD; Zhang, L; Brimo, F; Ajani, JA; Gonzalez, AMA; Behrens, C; Bondaruk, O; Broaddus, R; Czerniak, B; Esmaeli, B; Fujimoto, J; Gershenwald, J; Guo, C; Logothetis, C; Meric-Bernstam, F; Moran, C; Ramondetta, L; Rice, D; Sood, A; Tamboli, P; Thompson, T; Troncoso, P; Tsao, A; Wistuba, I; Carter, C; Haydu, L; Hersey, P; Jakrot, V; Kakavand, H; Kefford, R; Lee, K; Long, G; Mann, G; Quinn, M; Saw, R; Scolyer, R; Shannon, K; Spillane, A; Stretch, J; Synott, M; Thompson, J; Wilmott, J; Al-Ahmadie, H; Chan, TA; Ghossein, R; Gopalan, A; Levine, DA; Reuter, V; Singer, S; Singh, B; Tien, NV; Broudy, T; Mirsaidi, C et al.
MLA Citation
Hoadley, KA, Yau, C, Hinoue, T, Wolf, DM, Lazar, AJ, Drill, E, Shen, R, Taylor, AM, Cherniack, AD, Thorsson, V, Akbani, R, Bowlby, R, Wong, CK, Wiznerowicz, M, Sanchez-Vega, F, Robertson, AG, Schneider, BG, Lawrence, MS, Noushmehr, H, Malta, TM, Stuart, JM, Benz, CC, Laird, PW, Caesar-Johnson, SJ, Demchok, JA, Felau, I, Kasapi, M, Ferguson, ML, Hutter, CM, Sofia, HJ, Tarnuzzer, R, Wang, Z, Yang, L, Zenklusen, JC, Zhang, JJ, Chudamani, S, Liu, J, Lolla, L, Naresh, R, Pihl, T, Sun, Q, Wan, Y, Wu, Y, Cho, J, DeFreitas, T, Frazer, S, Gehlenborg, N, Getz, G, Heiman, DI, Kim, J, Lin, P, Meier, S, Noble, MS, Saksena, G, Voet, D, Zhang, H, Bernard, B, Chambwe, N, Dhankani, V, Knijnenburg, T, Kramer, R, Leinonen, K, Liu, Y, Miller, M, Reynolds, S, Shmulevich, I, Thorsson, V, Zhang, W, Broom, BM, Hegde, AM, Ju, Z, Kanchi, RS, Korkut, A, Li, J, Liang, H, Ling, S, Liu, W, Lu, Y, Mills, GB, Ng, K-S, Rao, A, Ryan, M, Wang, J, Weinstein, JN, Zhang, J, Abeshouse, A, Armenia, J, Chakravarty, D, Chatila, WK, de Bruijn, I, Gao, J, Gross, BE, Heins, ZJ, Kundra, R, La, K, Ladanyi, M, Luna, A, Nissan, MG, Ochoa, A, Phillips, SM, Reznik, E, Sander, C, Schultz, N, Sheridan, R, Sumer, SO, Sun, Y, Taylor, BS, Wang, J, Zhang, H, Anur, P, Peto, M, Spellman, P, Benz, C, Hayes, DN, Parker, JS, Wilkerson, MD, Ally, A, Balasundaram, M, Brooks, D, Carlsen, R, Chuah, E, Dhalla, N, Holt, R, Jones, SJM, Kasaian, K, Lee, D, Ma, Y, Marra, MA, Mayo, M, Moore, RA, Mungall, AJ, Mungall, K, Sadeghi, S, Schein, JE, Sipahimalani, P, Tam, A, Thiessen, N, Tse, K, Wong, T, Berger, AC, Beroukhim, R, Cibulskis, C, Gabriel, SB, Gao, GF, Ha, G, Meyerson, M, Schumacher, SE, Shih, J, Kucherlapati, MH, Kucherlapati, RS, Baylin, S, Cope, L, Danilova, L, Bootwalla, MS, Lai, PH, Maglinte, DT, Van Den Berg, DJ, Weisenberger, DJ, Auman, JT, Balu, S, Bodenheimer, T, Fan, C, Hoyle, AP, Jefferys, SR, Jones, CD, Meng, S, Mieczkowski, PA, Mose, LE, Perou, AH, Perou, CM, Roach, J, Shi, Y, Simons, JV, Skelly, T, Soloway, MG, Tan, D, Veluvolu, U, Fan, H, Shen, H, Zhou, W, Bellair, M, Chang, K, Covington, K, Creighton, CJ, Dinh, H, Doddapaneni, H, Donehower, LA, Drummond, J, Gibbs, RA, Glenn, R, Hale, W, Han, Y, Hu, J, Korchina, V, Lee, S, Lewis, L, Li, W, Liu, X, Morgan, M, Morton, D, Muzny, D, Santibanez, J, Sheth, M, Shinbrot, E, Wang, L, Wang, M, Wheeler, DA, Xi, L, Zhao, F, Hess, J, Appelbaum, EL, Bailey, M, Cordes, MG, Ding, L, Fronick, CC, Fulton, LA, Fulton, RS, Kandoth, C, Mardis, ER, McLellan, MD, Miller, CA, Schmidt, HK, Wilson, RK, Crain, D, Curley, E, Gardner, J, Lau, K, Mallery, D, Morris, S, Paulauskis, J, Penny, R, Shelton, C, Shelton, T, Sherman, M, Thompson, E, Yena, P, Bowen, J, Gastier-Foster, JM, Gerken, M, Leraas, KM, Lichtenberg, TM, Ramirez, NC, Wise, L, Zmuda, E, Corcoran, N, Costello, T, Hovens, C, Carvalho, AL, de Carvalho, AC, Fregnani, JH, Longatto-Filho, A, Reis, RM, Scapulatempo-Neto, C, Silveira, HCS, Vidal, DO, Burnette, A, Eschbacher, J, Hermes, B, Noss, A, Singh, R, Anderson, ML, Castro, PD, Ittmann, M, Huntsman, D, Kohl, B, Le, X, Thorp, R, Andry, C, Duffy, ER, Lyadov, V, Paklina, O, Setdikova, G, Shabunin, A, Tavobilov, M, McPherson, C, Warnick, R, Berkowitz, R, Cramer, D, Feltmate, C, Horowitz, N, Kibel, A, Muto, M, Raut, CP, Malykh, A, Barnholtz-Sloan, JS, Barrett, W, Devine, K, Fulop, J, Ostrom, QT, Shimmel, K, Wolinsky, Y, Sloan, AE, De Rose, A, Giuliante, F, Goodman, M, Karlan, BY, Hagedorn, CH, Eckman, J, Harr, J, Myers, J, Tucker, K, Zach, LA, Deyarmin, B, Hu, H, Kvecher, L, Larson, C, Mural, RJ, Somiari, S, Vicha, A, Zelinka, T, Bennett, J, Iacocca, M, Rabeno, B, Swanson, P, Latour, M, Lacombe, L, Têtu, B, Bergeron, A, McGraw, M, Staugaitis, SM, Chabot, J, Hibshoosh, H, Sepulveda, A, Su, T, Wang, T, Potapova, O, Voronina, O, Desjardins, L, Mariani, O, Roman-Roman, S, Sastre, X, Stern, M-H, Cheng, F, Signoretti, S, Berchuck, A, Bigner, D, Lipp, E, Marks, J, McCall, S, McLendon, R, Secord, A, Sharp, A, Behera, M, Brat, DJ, Chen, A, Delman, K, Force, S, Khuri, F, Magliocca, K, Maithel, S, Olson, JJ, Owonikoko, T, Pickens, A, Ramalingam, S, Shin, DM, Sica, G, Van Meir, EG, Zhang, H, Eijckenboom, W, Gillis, A, Korpershoek, E, Looijenga, L, Oosterhuis, W, Stoop, H, van Kessel, KE, Zwarthoff, EC, Calatozzolo, C, Cuppini, L, Cuzzubbo, S, DiMeco, F, Finocchiaro, G, Mattei, L, Perin, A, Pollo, B, Chen, C, Houck, J, Lohavanichbutr, P, Hartmann, A, Stoehr, C, Stoehr, R, Taubert, H, Wach, S, Wullich, B, Kycler, W, Murawa, D, Chung, K, Edenfield, WJ, Martin, J, Baudin, E, Bubley, G, Bueno, R, De Rienzo, A, Richards, WG, Kalkanis, S, Mikkelsen, T, Scarpace, L, Girard, N, Aymerich, M, Campo, E, Giné, E, Guillermo, AL, Van Bang, N, Hanh, PT, Phu, BD, Tang, Y, Colman, H, Evason, K, Dottino, PR, Martignetti, JA, Gabra, H, Juhl, H, Akeredolu, T, Stepa, S, Hoon, D, Ahn, K, Kang, KJ, Beuschlein, F, Breggia, A, Birrer, M, Bell, D, Borad, M, Bryce, AH, Castle, E, Chandan, V, Cheville, J, Copland, JA, Farnell, M, Flotte, T, Giama, N, Ho, T, Kendrick, M, Kocher, J-P, Kopp, K, Moser, C, Nagorney, D, O’Brien, D, O’Neill, BP, Patel, T, Petersen, G, Que, F, Rivera, M, Roberts, L, Smallridge, R, Smyrk, T, Stanton, M, Thompson, RH, Torbenson, M, Yang, JD, Zhang, L, Brimo, F, Ajani, JA, Gonzalez, AMA, Behrens, C, Bondaruk, O, Broaddus, R, Czerniak, B, Esmaeli, B, Fujimoto, J, Gershenwald, J, Guo, C, Logothetis, C, Meric-Bernstam, F, Moran, C, Ramondetta, L, Rice, D, Sood, A, Tamboli, P, Thompson, T, Troncoso, P, Tsao, A, Wistuba, I, Carter, C, Haydu, L, Hersey, P, Jakrot, V, Kakavand, H, Kefford, R, Lee, K, Long, G, Mann, G, Quinn, M, Saw, R, Scolyer, R, Shannon, K, Spillane, A, Stretch, J, Synott, M, Thompson, J, Wilmott, J, Al-Ahmadie, H, Chan, TA, Ghossein, R, Gopalan, A, Levine, DA, Reuter, V, Singer, S, Singh, B, Tien, NV, Broudy, T, and Mirsaidi, C et al.. "Cell-of-Origin Patterns Dominate the Molecular Classification of 10,000 Tumors from 33 Types of Cancer." Cell 173.2 (April 2018): 291-304.e6.
Source
crossref
Published In
Cell
Volume
173
Issue
2
Publish Date
2018
Start Page
291
End Page
304.e6
DOI
10.1016/j.cell.2018.03.022

Spatial Organization and Molecular Correlation of Tumor-Infiltrating Lymphocytes Using Deep Learning on Pathology Images

Authors
Saltz, J; Gupta, R; Hou, L; Kurc, T; Singh, P; Nguyen, V; Samaras, D; Shroyer, KR; Zhao, T; Batiste, R; Van Arnam, J; Shmulevich, I; Rao, AUK; Lazar, AJ; Sharma, A; Thorsson, V; Caesar-Johnson, SJ; Demchok, JA; Felau, I; Kasapi, M; Ferguson, ML; Hutter, CM; Sofia, HJ; Tarnuzzer, R; Wang, Z; Yang, L; Zenklusen, JC; Zhang, JJ; Chudamani, S; Liu, J; Lolla, L; Naresh, R; Pihl, T; Sun, Q; Wan, Y; Wu, Y; Cho, J; DeFreitas, T; Frazer, S; Gehlenborg, N; Getz, G; Heiman, DI; Kim, J; Lawrence, MS; Lin, P; Meier, S; Noble, MS; Saksena, G; Voet, D; Zhang, H; Bernard, B; Chambwe, N; Dhankani, V; Knijnenburg, T; Kramer, R; Leinonen, K; Liu, Y; Miller, M; Reynolds, S; Thorsson, V; Zhang, W; Akbani, R; Broom, BM; Hegde, AM; Ju, Z; Kanchi, RS; Korkut, A; Li, J; Liang, H; Ling, S; Liu, W; Lu, Y; Mills, GB; Ng, K-S; Rao, A; Ryan, M; Wang, J; Weinstein, JN; Zhang, J; Abeshouse, A; Armenia, J; Chakravarty, D; Chatila, WK; de Bruijn, I; Gao, J; Gross, BE; Heins, ZJ; Kundra, R; La, K; Ladanyi, M; Luna, A; Nissan, MG; Ochoa, A; Phillips, SM; Reznik, E; Sanchez-Vega, F; Sander, C; Schultz, N; Sheridan, R; Sumer, SO; Sun, Y; Taylor, BS; Wang, J; Zhang, H; Anur, P; Peto, M; Spellman, P; Benz, C; Stuart, JM; Wong, CK; Yau, C; Hayes, DN; Parker, JS; Wilkerson, MD; Ally, A; Balasundaram, M; Bowlby, R; Brooks, D; Carlsen, R; Chuah, E; Dhalla, N; Holt, R; Jones, SJM; Kasaian, K; Lee, D; Ma, Y; Marra, MA; Mayo, M; Moore, RA; Mungall, AJ; Mungall, K; Robertson, AG; Sadeghi, S; Schein, JE; Sipahimalani, P; Tam, A; Thiessen, N; Tse, K; Wong, T; Berger, AC; Beroukhim, R; Cherniack, AD; Cibulskis, C; Gabriel, SB; Gao, GF; Ha, G; Meyerson, M; Schumacher, SE; Shih, J; Kucherlapati, MH; Kucherlapati, RS; Baylin, S; Cope, L; Danilova, L; Bootwalla, MS; Lai, PH; Maglinte, DT; Van Den Berg, DJ; Weisenberger, DJ; Auman, JT; Balu, S; Bodenheimer, T; Fan, C; Hoadley, KA; Hoyle, AP; Jefferys, SR; Jones, CD; Meng, S; Mieczkowski, PA; Mose, LE; Perou, AH; Perou, CM; Roach, J; Shi, Y; Simons, JV; Skelly, T; Soloway, MG; Tan, D; Veluvolu, U; Fan, H; Hinoue, T; Laird, PW; Shen, H; Zhou, W; Bellair, M; Chang, K; Covington, K; Creighton, CJ; Dinh, H; Doddapaneni, H; Donehower, LA; Drummond, J; Gibbs, RA; Glenn, R; Hale, W; Han, Y; Hu, J; Korchina, V; Lee, S; Lewis, L; Li, W; Liu, X; Morgan, M; Morton, D; Muzny, D; Santibanez, J; Sheth, M; Shinbrot, E; Wang, L; Wang, M; Wheeler, DA; Xi, L; Zhao, F; Hess, J; Appelbaum, EL; Bailey, M; Cordes, MG; Ding, L; Fronick, CC; Fulton, LA; Fulton, RS; Kandoth, C; Mardis, ER; McLellan, MD; Miller, CA; Schmidt, HK; Wilson, RK; Crain, D; Curley, E; Gardner, J; Lau, K; Mallery, D; Morris, S; Paulauskis, J; Penny, R; Shelton, C; Shelton, T; Sherman, M; Thompson, E; Yena, P; Bowen, J; Gastier-Foster, JM; Gerken, M; Leraas, KM; Lichtenberg, TM; Ramirez, NC; Wise, L; Zmuda, E; Corcoran, N; Costello, T; Hovens, C; Carvalho, AL; de Carvalho, AC; Fregnani, JH; Longatto-Filho, A; Reis, RM; Scapulatempo-Neto, C; Silveira, HCS; Vidal, DO; Burnette, A; Eschbacher, J; Hermes, B; Noss, A; Singh, R; Anderson, ML; Castro, PD; Ittmann, M; Huntsman, D; Kohl, B; Le, X; Thorp, R; Andry, C; Duffy, ER; Lyadov, V; Paklina, O; Setdikova, G; Shabunin, A; Tavobilov, M; McPherson, C; Warnick, R; Berkowitz, R; Cramer, D; Feltmate, C; Horowitz, N; Kibel, A; Muto, M; Raut, CP; Malykh, A; Barnholtz-Sloan, JS; Barrett, W; Devine, K; Fulop, J; Ostrom, QT; Shimmel, K; Wolinsky, Y; Sloan, AE; De Rose, A; Giuliante, F; Goodman, M; Karlan, BY; Hagedorn, CH; Eckman, J; Harr, J; Myers, J; Tucker, K; Zach, LA; Deyarmin, B; Hu, H; Kvecher, L; Larson, C; Mural, RJ; Somiari, S; Vicha, A; Zelinka, T; Bennett, J; Iacocca, M; Rabeno, B; Swanson, P; Latour, M; Lacombe, L; Têtu, B; Bergeron, A; McGraw, M; Staugaitis, SM; Chabot, J; Hibshoosh, H; Sepulveda, A; Su, T; Wang, T; Potapova, O; Voronina, O; Desjardins, L; Mariani, O; Roman-Roman, S; Sastre, X; Stern, M-H; Cheng, F; Signoretti, S; Berchuck, A; Bigner, D; Lipp, E; Marks, J; McCall, S; McLendon, R; Secord, A; Sharp, A; Behera, M; Brat, DJ; Chen, A; Delman, K; Force, S; Khuri, F; Magliocca, K; Maithel, S; Olson, JJ; Owonikoko, T; Pickens, A; Ramalingam, S; Shin, DM; Sica, G; Van Meir, EG; Zhang, H; Eijckenboom, W; Gillis, A; Korpershoek, E; Looijenga, L; Oosterhuis, W; Stoop, H; van Kessel, KE; Zwarthoff, EC; Calatozzolo, C; Cuppini, L; Cuzzubbo, S; DiMeco, F; Finocchiaro, G; Mattei, L; Perin, A; Pollo, B; Chen, C; Houck, J; Lohavanichbutr, P; Hartmann, A; Stoehr, C; Stoehr, R; Taubert, H; Wach, S; Wullich, B; Kycler, W; Murawa, D; Wiznerowicz, M; Chung, K; Edenfield, WJ; Martin, J; Baudin, E; Bubley, G; Bueno, R; De Rienzo, A; Richards, WG; Kalkanis, S; Mikkelsen, T; Noushmehr, H; Scarpace, L; Girard, N; Aymerich, M; Campo, E; Giné, E; Guillermo, AL; Van Bang, N; Hanh, PT; Phu, BD; Tang, Y; Colman, H; Evason, K; Dottino, PR; Martignetti, JA; Gabra, H; Juhl, H; Akeredolu, T; Stepa, S; Hoon, D; Ahn, K; Kang, KJ; Beuschlein, F; Breggia, A; Birrer, M; Bell, D; Borad, M; Bryce, AH; Castle, E; Chandan, V; Cheville, J; Copland, JA; Farnell, M; Flotte, T; Giama, N; Ho, T; Kendrick, M; Kocher, J-P; Kopp, K; Moser, C; Nagorney, D; O’Brien, D; O’Neill, BP; Patel, T; Petersen, G; Que, F; Rivera, M; Roberts, L; Smallridge, R; Smyrk, T; Stanton, M; Thompson, RH; Torbenson, M; Yang, JD; Zhang, L; Brimo, F; Ajani, JA; Gonzalez, AMA; Behrens, C; Bondaruk, J; Broaddus, R; Czerniak, B; Esmaeli, B; Fujimoto, J; Gershenwald, J; Guo, C; Logothetis, C; Meric-Bernstam, F; Moran, C; Ramondetta, L; Rice, D; Sood, A; Tamboli, P; Thompson, T; Troncoso, P; Tsao, A; Wistuba, I; Carter, C; Haydu, L; Hersey, P; Jakrot, V; Kakavand, H; Kefford, R; Lee, K; Long, G; Mann, G; Quinn, M; Saw, R; Scolyer, R; Shannon, K; Spillane, A; Stretch, O; Synott, M; Thompson, J; Wilmott, J; Al-Ahmadie, H; Chan, TA; Ghossein, R; Gopalan, A; Levine, DA et al.
MLA Citation
Saltz, J, Gupta, R, Hou, L, Kurc, T, Singh, P, Nguyen, V, Samaras, D, Shroyer, KR, Zhao, T, Batiste, R, Van Arnam, J, Shmulevich, I, Rao, AUK, Lazar, AJ, Sharma, A, Thorsson, V, Caesar-Johnson, SJ, Demchok, JA, Felau, I, Kasapi, M, Ferguson, ML, Hutter, CM, Sofia, HJ, Tarnuzzer, R, Wang, Z, Yang, L, Zenklusen, JC, Zhang, JJ, Chudamani, S, Liu, J, Lolla, L, Naresh, R, Pihl, T, Sun, Q, Wan, Y, Wu, Y, Cho, J, DeFreitas, T, Frazer, S, Gehlenborg, N, Getz, G, Heiman, DI, Kim, J, Lawrence, MS, Lin, P, Meier, S, Noble, MS, Saksena, G, Voet, D, Zhang, H, Bernard, B, Chambwe, N, Dhankani, V, Knijnenburg, T, Kramer, R, Leinonen, K, Liu, Y, Miller, M, Reynolds, S, Thorsson, V, Zhang, W, Akbani, R, Broom, BM, Hegde, AM, Ju, Z, Kanchi, RS, Korkut, A, Li, J, Liang, H, Ling, S, Liu, W, Lu, Y, Mills, GB, Ng, K-S, Rao, A, Ryan, M, Wang, J, Weinstein, JN, Zhang, J, Abeshouse, A, Armenia, J, Chakravarty, D, Chatila, WK, de Bruijn, I, Gao, J, Gross, BE, Heins, ZJ, Kundra, R, La, K, Ladanyi, M, Luna, A, Nissan, MG, Ochoa, A, Phillips, SM, Reznik, E, Sanchez-Vega, F, Sander, C, Schultz, N, Sheridan, R, Sumer, SO, Sun, Y, Taylor, BS, Wang, J, Zhang, H, Anur, P, Peto, M, Spellman, P, Benz, C, Stuart, JM, Wong, CK, Yau, C, Hayes, DN, Parker, JS, Wilkerson, MD, Ally, A, Balasundaram, M, Bowlby, R, Brooks, D, Carlsen, R, Chuah, E, Dhalla, N, Holt, R, Jones, SJM, Kasaian, K, Lee, D, Ma, Y, Marra, MA, Mayo, M, Moore, RA, Mungall, AJ, Mungall, K, Robertson, AG, Sadeghi, S, Schein, JE, Sipahimalani, P, Tam, A, Thiessen, N, Tse, K, Wong, T, Berger, AC, Beroukhim, R, Cherniack, AD, Cibulskis, C, Gabriel, SB, Gao, GF, Ha, G, Meyerson, M, Schumacher, SE, Shih, J, Kucherlapati, MH, Kucherlapati, RS, Baylin, S, Cope, L, Danilova, L, Bootwalla, MS, Lai, PH, Maglinte, DT, Van Den Berg, DJ, Weisenberger, DJ, Auman, JT, Balu, S, Bodenheimer, T, Fan, C, Hoadley, KA, Hoyle, AP, Jefferys, SR, Jones, CD, Meng, S, Mieczkowski, PA, Mose, LE, Perou, AH, Perou, CM, Roach, J, Shi, Y, Simons, JV, Skelly, T, Soloway, MG, Tan, D, Veluvolu, U, Fan, H, Hinoue, T, Laird, PW, Shen, H, Zhou, W, Bellair, M, Chang, K, Covington, K, Creighton, CJ, Dinh, H, Doddapaneni, H, Donehower, LA, Drummond, J, Gibbs, RA, Glenn, R, Hale, W, Han, Y, Hu, J, Korchina, V, Lee, S, Lewis, L, Li, W, Liu, X, Morgan, M, Morton, D, Muzny, D, Santibanez, J, Sheth, M, Shinbrot, E, Wang, L, Wang, M, Wheeler, DA, Xi, L, Zhao, F, Hess, J, Appelbaum, EL, Bailey, M, Cordes, MG, Ding, L, Fronick, CC, Fulton, LA, Fulton, RS, Kandoth, C, Mardis, ER, McLellan, MD, Miller, CA, Schmidt, HK, Wilson, RK, Crain, D, Curley, E, Gardner, J, Lau, K, Mallery, D, Morris, S, Paulauskis, J, Penny, R, Shelton, C, Shelton, T, Sherman, M, Thompson, E, Yena, P, Bowen, J, Gastier-Foster, JM, Gerken, M, Leraas, KM, Lichtenberg, TM, Ramirez, NC, Wise, L, Zmuda, E, Corcoran, N, Costello, T, Hovens, C, Carvalho, AL, de Carvalho, AC, Fregnani, JH, Longatto-Filho, A, Reis, RM, Scapulatempo-Neto, C, Silveira, HCS, Vidal, DO, Burnette, A, Eschbacher, J, Hermes, B, Noss, A, Singh, R, Anderson, ML, Castro, PD, Ittmann, M, Huntsman, D, Kohl, B, Le, X, Thorp, R, Andry, C, Duffy, ER, Lyadov, V, Paklina, O, Setdikova, G, Shabunin, A, Tavobilov, M, McPherson, C, Warnick, R, Berkowitz, R, Cramer, D, Feltmate, C, Horowitz, N, Kibel, A, Muto, M, Raut, CP, Malykh, A, Barnholtz-Sloan, JS, Barrett, W, Devine, K, Fulop, J, Ostrom, QT, Shimmel, K, Wolinsky, Y, Sloan, AE, De Rose, A, Giuliante, F, Goodman, M, Karlan, BY, Hagedorn, CH, Eckman, J, Harr, J, Myers, J, Tucker, K, Zach, LA, Deyarmin, B, Hu, H, Kvecher, L, Larson, C, Mural, RJ, Somiari, S, Vicha, A, Zelinka, T, Bennett, J, Iacocca, M, Rabeno, B, Swanson, P, Latour, M, Lacombe, L, Têtu, B, Bergeron, A, McGraw, M, Staugaitis, SM, Chabot, J, Hibshoosh, H, Sepulveda, A, Su, T, Wang, T, Potapova, O, Voronina, O, Desjardins, L, Mariani, O, Roman-Roman, S, Sastre, X, Stern, M-H, Cheng, F, Signoretti, S, Berchuck, A, Bigner, D, Lipp, E, Marks, J, McCall, S, McLendon, R, Secord, A, Sharp, A, Behera, M, Brat, DJ, Chen, A, Delman, K, Force, S, Khuri, F, Magliocca, K, Maithel, S, Olson, JJ, Owonikoko, T, Pickens, A, Ramalingam, S, Shin, DM, Sica, G, Van Meir, EG, Zhang, H, Eijckenboom, W, Gillis, A, Korpershoek, E, Looijenga, L, Oosterhuis, W, Stoop, H, van Kessel, KE, Zwarthoff, EC, Calatozzolo, C, Cuppini, L, Cuzzubbo, S, DiMeco, F, Finocchiaro, G, Mattei, L, Perin, A, Pollo, B, Chen, C, Houck, J, Lohavanichbutr, P, Hartmann, A, Stoehr, C, Stoehr, R, Taubert, H, Wach, S, Wullich, B, Kycler, W, Murawa, D, Wiznerowicz, M, Chung, K, Edenfield, WJ, Martin, J, Baudin, E, Bubley, G, Bueno, R, De Rienzo, A, Richards, WG, Kalkanis, S, Mikkelsen, T, Noushmehr, H, Scarpace, L, Girard, N, Aymerich, M, Campo, E, Giné, E, Guillermo, AL, Van Bang, N, Hanh, PT, Phu, BD, Tang, Y, Colman, H, Evason, K, Dottino, PR, Martignetti, JA, Gabra, H, Juhl, H, Akeredolu, T, Stepa, S, Hoon, D, Ahn, K, Kang, KJ, Beuschlein, F, Breggia, A, Birrer, M, Bell, D, Borad, M, Bryce, AH, Castle, E, Chandan, V, Cheville, J, Copland, JA, Farnell, M, Flotte, T, Giama, N, Ho, T, Kendrick, M, Kocher, J-P, Kopp, K, Moser, C, Nagorney, D, O’Brien, D, O’Neill, BP, Patel, T, Petersen, G, Que, F, Rivera, M, Roberts, L, Smallridge, R, Smyrk, T, Stanton, M, Thompson, RH, Torbenson, M, Yang, JD, Zhang, L, Brimo, F, Ajani, JA, Gonzalez, AMA, Behrens, C, Bondaruk, J, Broaddus, R, Czerniak, B, Esmaeli, B, Fujimoto, J, Gershenwald, J, Guo, C, Logothetis, C, Meric-Bernstam, F, Moran, C, Ramondetta, L, Rice, D, Sood, A, Tamboli, P, Thompson, T, Troncoso, P, Tsao, A, Wistuba, I, Carter, C, Haydu, L, Hersey, P, Jakrot, V, Kakavand, H, Kefford, R, Lee, K, Long, G, Mann, G, Quinn, M, Saw, R, Scolyer, R, Shannon, K, Spillane, A, Stretch, O, Synott, M, Thompson, J, Wilmott, J, Al-Ahmadie, H, Chan, TA, Ghossein, R, Gopalan, A, and Levine, DA et al.. "Spatial Organization and Molecular Correlation of Tumor-Infiltrating Lymphocytes Using Deep Learning on Pathology Images." Cell Reports 23.1 (April 2018): 181-193.e7.
Source
crossref
Published In
Cell Reports
Volume
23
Issue
1
Publish Date
2018
Start Page
181
End Page
193.e7
DOI
10.1016/j.celrep.2018.03.086

Pathogenic Germline Variants in 10,389 Adult Cancers

Authors
Huang, K-L; Mashl, RJ; Wu, Y; Ritter, DI; Wang, J; Oh, C; Paczkowska, M; Reynolds, S; Wyczalkowski, MA; Oak, N; Scott, AD; Krassowski, M; Cherniack, AD; Houlahan, KE; Jayasinghe, R; Wang, L-B; Zhou, DC; Liu, D; Cao, S; Kim, YW; Koire, A; McMichael, JF; Hucthagowder, V; Kim, T-B; Hahn, A; Wang, C; McLellan, MD; Al-Mulla, F; Johnson, KJ; Lichtarge, O; Boutros, PC; Raphael, B; Lazar, AJ; Zhang, W; Wendl, MC; Govindan, R; Jain, S; Wheeler, D; Kulkarni, S; Dipersio, JF; Reimand, J; Meric-Bernstam, F; Chen, K; Shmulevich, I; Plon, SE; Chen, F; Ding, L; Caesar-Johnson, SJ; Demchok, JA; Felau, I; Kasapi, M; Ferguson, ML; Hutter, CM; Sofia, HJ; Tarnuzzer, R; Wang, Z; Yang, L; Zenklusen, JC; Zhang, JJ; Chudamani, S; Liu, J; Lolla, L; Naresh, R; Pihl, T; Sun, Q; Wan, Y; Wu, Y; Cho, J; DeFreitas, T; Frazer, S; Gehlenborg, N; Getz, G; Heiman, DI; Kim, J; Lawrence, MS; Lin, P; Meier, S; Noble, MS; Saksena, G; Voet, D; Zhang, H; Bernard, B; Chambwe, N; Dhankani, V; Knijnenburg, T; Kramer, R; Leinonen, K; Liu, Y; Miller, M; Thorsson, V; Akbani, R; Broom, BM; Hegde, AM; Ju, Z; Kanchi, RS; Korkut, A; Li, J; Liang, H; Ling, S; Liu, W; Lu, Y; Mills, GB; Ng, K-S; Rao, A; Ryan, M; Wang, J; Weinstein, JN; Zhang, J; Abeshouse, A; Armenia, J; Chakravarty, D; Chatila, WK; de Bruijn, I; Gao, J; Gross, BE; Heins, ZJ; Kundra, R; La, K; Ladanyi, M; Luna, A; Nissan, MG; Ochoa, A; Phillips, SM; Reznik, E; Sanchez-Vega, F; Sander, C; Schultz, N; Sheridan, R; Sumer, SO; Sun, Y; Taylor, BS; Wang, J; Zhang, H; Anur, P; Peto, M; Spellman, P; Benz, C; Stuart, JM; Wong, CK; Yau, C; Hayes, DN; Parker, JS; Wilkerson, MD; Ally, A; Balasundaram, M; Bowlby, R; Brooks, D; Carlsen, R; Chuah, E; Dhalla, N; Holt, R; Jones, SJM; Kasaian, K; Lee, D; Ma, Y; Marra, MA; Mayo, M; Moore, RA; Mungall, AJ; Mungall, K; Robertson, AG; Sadeghi, S; Schein, JE; Sipahimalani, P; Tam, A; Thiessen, N; Tse, K; Wong, T; Berger, AC; Beroukhim, R; Cibulskis, C; Gabriel, SB; Gao, GF; Ha, G; Meyerson, M; Schumacher, SE; Shih, J; Kucherlapati, MH; Kucherlapati, RS; Baylin, S; Cope, L; Danilova, L; Bootwalla, MS; Lai, PH; Maglinte, DT; Van Den Berg, DJ; Weisenberger, DJ; Auman, JT; Balu, S; Bodenheimer, T; Fan, C; Hoadley, KA; Hoyle, AP; Jefferys, SR; Jones, CD; Meng, S; Mieczkowski, PA; Mose, LE; Perou, AH; Perou, CM; Roach, J; Shi, Y; Simons, JV; Skelly, T; Soloway, MG; Tan, D; Veluvolu, U; Fan, H; Hinoue, T; Laird, PW; Shen, H; Zhou, W; Bellair, M; Chang, K; Covington, K; Creighton, CJ; Dinh, H; Doddapaneni, H; Donehower, LA; Drummond, J; Gibbs, RA; Glenn, R; Hale, W; Han, Y; Hu, J; Korchina, V; Lee, S; Lewis, L; Li, W; Liu, X; Morgan, M; Morton, D; Muzny, D; Santibanez, J; Sheth, M; Shinbrot, E; Wang, L; Wang, M; Wheeler, DA; Xi, L; Zhao, F; Hess, J; Appelbaum, EL; Bailey, M; Cordes, MG; Fronick, CC; Fulton, LA; Fulton, RS; Kandoth, C; Mardis, ER; Miller, CA; Schmidt, HK; Wilson, RK; Crain, D; Curley, E; Gardner, J; Lau, K; Mallery, D; Morris, S; Paulauskis, J; Penny, R; Shelton, C; Shelton, T; Sherman, M; Thompson, E; Yena, P; Bowen, J; Gastier-Foster, JM; Gerken, M; Leraas, KM; Lichtenberg, TM; Ramirez, NC; Wise, L; Zmuda, E; Corcoran, N; Costello, T; Hovens, C; Carvalho, AL; de Carvalho, AC; Fregnani, JH; Longatto-Filho, A; Reis, RM; Scapulatempo-Neto, C; Silveira, HCS; Vidal, DO; Burnette, A; Eschbacher, J; Hermes, B; Noss, A; Singh, R; Anderson, ML; Castro, PD; Ittmann, M; Huntsman, D; Kohl, B; Le, X; Thorp, R; Andry, C; Duffy, ER; Lyadov, V; Paklina, O; Setdikova, G; Shabunin, A; Tavobilov, M; McPherson, C; Warnick, R; Berkowitz, R; Cramer, D; Feltmate, C; Horowitz, N; Kibel, A; Muto, M; Raut, CP; Malykh, A; Barnholtz-Sloan, JS; Barrett, W; Devine, K; Fulop, J; Ostrom, QT; Shimmel, K; Wolinsky, Y; Sloan, AE; De Rose, A; Giuliante, F; Goodman, M; Karlan, BY; Hagedorn, CH; Eckman, J; Harr, J; Myers, J; Tucker, K; Zach, LA; Deyarmin, B; Hu, H; Kvecher, L; Larson, C; Mural, RJ; Somiari, S; Vicha, A; Zelinka, T; Bennett, J; Iacocca, M; Rabeno, B; Swanson, P; Latour, M; Lacombe, L; Têtu, B; Bergeron, A; McGraw, M; Staugaitis, SM; Chabot, J; Hibshoosh, H; Sepulveda, A; Su, T; Wang, T; Potapova, O; Voronina, O; Desjardins, L; Mariani, O; Roman-Roman, S; Sastre, X; Stern, M-H; Cheng, F; Signoretti, S; Berchuck, A; Bigner, D; Lipp, E; Marks, J; McCall, S; McLendon, R; Secord, A; Sharp, A; Behera, M; Brat, DJ; Chen, A; Delman, K; Force, S; Khuri, F; Magliocca, K; Maithel, S; Olson, JJ; Owonikoko, T; Pickens, A; Ramalingam, S; Shin, DM; Sica, G; Van Meir, EG; Zhang, H; Eijckenboom, W; Gillis, A; Korpershoek, E; Looijenga, L; Oosterhuis, W; Stoop, H; van Kessel, KE; Zwarthoff, EC; Calatozzolo, C; Cuppini, L; Cuzzubbo, S; DiMeco, F; Finocchiaro, G; Mattei, L; Perin, A; Pollo, B; Chen, C; Houck, J; Lohavanichbutr, P; Hartmann, A; Stoehr, C; Stoehr, R; Taubert, H; Wach, S; Wullich, B; Kycler, W; Murawa, D; Wiznerowicz, M; Chung, K; Edenfield, WJ; Martin, J; Baudin, E; Bubley, G; Bueno, R; De Rienzo, A; Richards, WG; Kalkanis, S; Mikkelsen, T; Noushmehr, H; Scarpace, L; Girard, N; Aymerich, M; Campo, E; Giné, E; Guillermo, AL; Van Bang, N; Hanh, PT; Phu, BD; Tang, Y; Colman, H; Evason, K; Dottino, PR; Martignetti, JA; Gabra, H; Juhl, H; Akeredolu, T; Stepa, S; Hoon, D; Ahn, K; Kang, KJ; Beuschlein, F; Breggia, A; Birrer, M; Bell, D; Borad, M; Bryce, AH; Castle, E; Chandan, V; Cheville, J; Copland, JA; Farnell, M; Flotte, T; Giama, N; Ho, T; Kendrick, M; Kocher, J-P; Kopp, K; Moser, C; Nagorney, D; O’Brien, D; O’Neill, BP; Patel, T; Petersen, G; Que, F; Rivera, M; Roberts, L; Smallridge, R; Smyrk, T; Stanton, M; Thompson, RH; Torbenson, M; Yang, JD; Zhang, L; Brimo, F; Ajani, JA; Gonzalez, AMA; Behrens, C; Bondaruk, J; Broaddus, R; Czerniak, B; Esmaeli, B; Fujimoto, J; Gershenwald, J; Guo, C; Logothetis, C; Moran, C; Ramondetta, L; Rice, D; Sood, A; Tamboli, P; Thompson, T; Troncoso, P et al.
MLA Citation
Huang, K-L, Mashl, RJ, Wu, Y, Ritter, DI, Wang, J, Oh, C, Paczkowska, M, Reynolds, S, Wyczalkowski, MA, Oak, N, Scott, AD, Krassowski, M, Cherniack, AD, Houlahan, KE, Jayasinghe, R, Wang, L-B, Zhou, DC, Liu, D, Cao, S, Kim, YW, Koire, A, McMichael, JF, Hucthagowder, V, Kim, T-B, Hahn, A, Wang, C, McLellan, MD, Al-Mulla, F, Johnson, KJ, Lichtarge, O, Boutros, PC, Raphael, B, Lazar, AJ, Zhang, W, Wendl, MC, Govindan, R, Jain, S, Wheeler, D, Kulkarni, S, Dipersio, JF, Reimand, J, Meric-Bernstam, F, Chen, K, Shmulevich, I, Plon, SE, Chen, F, Ding, L, Caesar-Johnson, SJ, Demchok, JA, Felau, I, Kasapi, M, Ferguson, ML, Hutter, CM, Sofia, HJ, Tarnuzzer, R, Wang, Z, Yang, L, Zenklusen, JC, Zhang, JJ, Chudamani, S, Liu, J, Lolla, L, Naresh, R, Pihl, T, Sun, Q, Wan, Y, Wu, Y, Cho, J, DeFreitas, T, Frazer, S, Gehlenborg, N, Getz, G, Heiman, DI, Kim, J, Lawrence, MS, Lin, P, Meier, S, Noble, MS, Saksena, G, Voet, D, Zhang, H, Bernard, B, Chambwe, N, Dhankani, V, Knijnenburg, T, Kramer, R, Leinonen, K, Liu, Y, Miller, M, Thorsson, V, Akbani, R, Broom, BM, Hegde, AM, Ju, Z, Kanchi, RS, Korkut, A, Li, J, Liang, H, Ling, S, Liu, W, Lu, Y, Mills, GB, Ng, K-S, Rao, A, Ryan, M, Wang, J, Weinstein, JN, Zhang, J, Abeshouse, A, Armenia, J, Chakravarty, D, Chatila, WK, de Bruijn, I, Gao, J, Gross, BE, Heins, ZJ, Kundra, R, La, K, Ladanyi, M, Luna, A, Nissan, MG, Ochoa, A, Phillips, SM, Reznik, E, Sanchez-Vega, F, Sander, C, Schultz, N, Sheridan, R, Sumer, SO, Sun, Y, Taylor, BS, Wang, J, Zhang, H, Anur, P, Peto, M, Spellman, P, Benz, C, Stuart, JM, Wong, CK, Yau, C, Hayes, DN, Parker, JS, Wilkerson, MD, Ally, A, Balasundaram, M, Bowlby, R, Brooks, D, Carlsen, R, Chuah, E, Dhalla, N, Holt, R, Jones, SJM, Kasaian, K, Lee, D, Ma, Y, Marra, MA, Mayo, M, Moore, RA, Mungall, AJ, Mungall, K, Robertson, AG, Sadeghi, S, Schein, JE, Sipahimalani, P, Tam, A, Thiessen, N, Tse, K, Wong, T, Berger, AC, Beroukhim, R, Cibulskis, C, Gabriel, SB, Gao, GF, Ha, G, Meyerson, M, Schumacher, SE, Shih, J, Kucherlapati, MH, Kucherlapati, RS, Baylin, S, Cope, L, Danilova, L, Bootwalla, MS, Lai, PH, Maglinte, DT, Van Den Berg, DJ, Weisenberger, DJ, Auman, JT, Balu, S, Bodenheimer, T, Fan, C, Hoadley, KA, Hoyle, AP, Jefferys, SR, Jones, CD, Meng, S, Mieczkowski, PA, Mose, LE, Perou, AH, Perou, CM, Roach, J, Shi, Y, Simons, JV, Skelly, T, Soloway, MG, Tan, D, Veluvolu, U, Fan, H, Hinoue, T, Laird, PW, Shen, H, Zhou, W, Bellair, M, Chang, K, Covington, K, Creighton, CJ, Dinh, H, Doddapaneni, H, Donehower, LA, Drummond, J, Gibbs, RA, Glenn, R, Hale, W, Han, Y, Hu, J, Korchina, V, Lee, S, Lewis, L, Li, W, Liu, X, Morgan, M, Morton, D, Muzny, D, Santibanez, J, Sheth, M, Shinbrot, E, Wang, L, Wang, M, Wheeler, DA, Xi, L, Zhao, F, Hess, J, Appelbaum, EL, Bailey, M, Cordes, MG, Fronick, CC, Fulton, LA, Fulton, RS, Kandoth, C, Mardis, ER, Miller, CA, Schmidt, HK, Wilson, RK, Crain, D, Curley, E, Gardner, J, Lau, K, Mallery, D, Morris, S, Paulauskis, J, Penny, R, Shelton, C, Shelton, T, Sherman, M, Thompson, E, Yena, P, Bowen, J, Gastier-Foster, JM, Gerken, M, Leraas, KM, Lichtenberg, TM, Ramirez, NC, Wise, L, Zmuda, E, Corcoran, N, Costello, T, Hovens, C, Carvalho, AL, de Carvalho, AC, Fregnani, JH, Longatto-Filho, A, Reis, RM, Scapulatempo-Neto, C, Silveira, HCS, Vidal, DO, Burnette, A, Eschbacher, J, Hermes, B, Noss, A, Singh, R, Anderson, ML, Castro, PD, Ittmann, M, Huntsman, D, Kohl, B, Le, X, Thorp, R, Andry, C, Duffy, ER, Lyadov, V, Paklina, O, Setdikova, G, Shabunin, A, Tavobilov, M, McPherson, C, Warnick, R, Berkowitz, R, Cramer, D, Feltmate, C, Horowitz, N, Kibel, A, Muto, M, Raut, CP, Malykh, A, Barnholtz-Sloan, JS, Barrett, W, Devine, K, Fulop, J, Ostrom, QT, Shimmel, K, Wolinsky, Y, Sloan, AE, De Rose, A, Giuliante, F, Goodman, M, Karlan, BY, Hagedorn, CH, Eckman, J, Harr, J, Myers, J, Tucker, K, Zach, LA, Deyarmin, B, Hu, H, Kvecher, L, Larson, C, Mural, RJ, Somiari, S, Vicha, A, Zelinka, T, Bennett, J, Iacocca, M, Rabeno, B, Swanson, P, Latour, M, Lacombe, L, Têtu, B, Bergeron, A, McGraw, M, Staugaitis, SM, Chabot, J, Hibshoosh, H, Sepulveda, A, Su, T, Wang, T, Potapova, O, Voronina, O, Desjardins, L, Mariani, O, Roman-Roman, S, Sastre, X, Stern, M-H, Cheng, F, Signoretti, S, Berchuck, A, Bigner, D, Lipp, E, Marks, J, McCall, S, McLendon, R, Secord, A, Sharp, A, Behera, M, Brat, DJ, Chen, A, Delman, K, Force, S, Khuri, F, Magliocca, K, Maithel, S, Olson, JJ, Owonikoko, T, Pickens, A, Ramalingam, S, Shin, DM, Sica, G, Van Meir, EG, Zhang, H, Eijckenboom, W, Gillis, A, Korpershoek, E, Looijenga, L, Oosterhuis, W, Stoop, H, van Kessel, KE, Zwarthoff, EC, Calatozzolo, C, Cuppini, L, Cuzzubbo, S, DiMeco, F, Finocchiaro, G, Mattei, L, Perin, A, Pollo, B, Chen, C, Houck, J, Lohavanichbutr, P, Hartmann, A, Stoehr, C, Stoehr, R, Taubert, H, Wach, S, Wullich, B, Kycler, W, Murawa, D, Wiznerowicz, M, Chung, K, Edenfield, WJ, Martin, J, Baudin, E, Bubley, G, Bueno, R, De Rienzo, A, Richards, WG, Kalkanis, S, Mikkelsen, T, Noushmehr, H, Scarpace, L, Girard, N, Aymerich, M, Campo, E, Giné, E, Guillermo, AL, Van Bang, N, Hanh, PT, Phu, BD, Tang, Y, Colman, H, Evason, K, Dottino, PR, Martignetti, JA, Gabra, H, Juhl, H, Akeredolu, T, Stepa, S, Hoon, D, Ahn, K, Kang, KJ, Beuschlein, F, Breggia, A, Birrer, M, Bell, D, Borad, M, Bryce, AH, Castle, E, Chandan, V, Cheville, J, Copland, JA, Farnell, M, Flotte, T, Giama, N, Ho, T, Kendrick, M, Kocher, J-P, Kopp, K, Moser, C, Nagorney, D, O’Brien, D, O’Neill, BP, Patel, T, Petersen, G, Que, F, Rivera, M, Roberts, L, Smallridge, R, Smyrk, T, Stanton, M, Thompson, RH, Torbenson, M, Yang, JD, Zhang, L, Brimo, F, Ajani, JA, Gonzalez, AMA, Behrens, C, Bondaruk, J, Broaddus, R, Czerniak, B, Esmaeli, B, Fujimoto, J, Gershenwald, J, Guo, C, Logothetis, C, Moran, C, Ramondetta, L, Rice, D, Sood, A, Tamboli, P, Thompson, T, and Troncoso, P et al.. "Pathogenic Germline Variants in 10,389 Adult Cancers." Cell 173.2 (April 2018): 355-370.e14.
Source
crossref
Published In
Cell
Volume
173
Issue
2
Publish Date
2018
Start Page
355
End Page
370.e14
DOI
10.1016/j.cell.2018.03.039

Molecular Characterization and Clinical Relevance of Metabolic Expression Subtypes in Human Cancers

Authors
Peng, X; Chen, Z; Farshidfar, F; Xu, X; Lorenzi, PL; Wang, Y; Cheng, F; Tan, L; Mojumdar, K; Du, D; Ge, Z; Li, J; Thomas, GV; Birsoy, K; Liu, L; Zhang, H; Zhao, Z; Marchand, C; Weinstein, JN; Bathe, OF; Liang, H; Caesar-Johnson, SJ; Demchok, JA; Felau, I; Kasapi, M; Ferguson, ML; Hutter, CM; Sofia, HJ; Tarnuzzer, R; Wang, Z; Yang, L; Zenklusen, JC; Zhang, JJ; Chudamani, S; Liu, J; Lolla, L; Naresh, R; Pihl, T; Sun, Q; Wan, Y; Wu, Y; Cho, J; DeFreitas, T; Frazer, S; Gehlenborg, N; Getz, G; Heiman, DI; Kim, J; Lawrence, MS; Lin, P; Meier, S; Noble, MS; Saksena, G; Voet, D; Zhang, H; Bernard, B; Chambwe, N; Dhankani, V; Knijnenburg, T; Kramer, R; Leinonen, K; Liu, Y; Miller, M; Reynolds, S; Shmulevich, I; Thorsson, V; Zhang, W; Akbani, R; Broom, BM; Hegde, AM; Ju, Z; Kanchi, RS; Korkut, A; Ling, S; Liu, W; Lu, Y; Mills, GB; Ng, K-S; Rao, A; Ryan, M; Wang, J; Zhang, J; Abeshouse, A; Armenia, J; Chakravarty, D; Chatila, WK; de Bruijn, I; Gao, J; Gross, BE; Heins, ZJ; Kundra, R; La, K; Ladanyi, M; Luna, A; Nissan, MG; Ochoa, A; Phillips, SM; Reznik, E; Sanchez-Vega, F; Sander, C; Schultz, N; Sheridan, R; Sumer, SO; Sun, Y; Taylor, BS; Wang, J; Zhang, H; Anur, P; Peto, M; Spellman, P; Benz, C; Stuart, JM; Wong, CK; Yau, C; Hayes, DN; Parker, JS; Wilkerson, MD; Ally, A; Balasundaram, M; Bowlby, R; Brooks, D; Carlsen, R; Chuah, E; Dhalla, N; Holt, R; Jones, SJM; Kasaian, K; Lee, D; Ma, Y; Marra, MA; Mayo, M; Moore, RA; Mungall, AJ; Mungall, K; Robertson, AG; Sadeghi, S; Schein, JE; Sipahimalani, P; Tam, A; Thiessen, N; Tse, K; Wong, T; Berger, AC; Beroukhim, R; Cherniack, AD; Cibulskis, C; Gabriel, SB; Gao, GF; Ha, G; Meyerson, M; Schumacher, SE; Shih, J; Kucherlapati, MH; Kucherlapati, RS; Baylin, S; Cope, L; Danilova, L; Bootwalla, MS; Lai, PH; Maglinte, DT; Van Den Berg, DJ; Weisenberger, DJ; Auman, JT; Balu, S; Bodenheimer, T; Fan, C; Hoadley, KA; Hoyle, AP; Jefferys, SR; Jones, CD; Meng, S; Mieczkowski, PA; Mose, LE; Perou, AH; Perou, CM; Roach, J; Shi, Y; Simons, JV; Skelly, T; Soloway, MG; Tan, D; Veluvolu, U; Fan, H; Hinoue, T; Laird, PW; Shen, H; Zhou, W; Bellair, M; Chang, K; Covington, K; Creighton, CJ; Dinh, H; Doddapaneni, H; Donehower, LA; Drummond, J; Gibbs, RA; Glenn, R; Hale, W; Han, Y; Hu, J; Korchina, V; Lee, S; Lewis, L; Li, W; Liu, X; Morgan, M; Morton, D; Muzny, D; Santibanez, J; Sheth, M; Shinbrot, E; Wang, L; Wang, M; Wheeler, DA; Xi, L; Zhao, F; Hess, J; Appelbaum, EL; Bailey, M; Cordes, MG; Ding, L; Fronick, CC; Fulton, LA; Fulton, RS; Kandoth, C; Mardis, ER; McLellan, MD; Miller, CA; Schmidt, HK; Wilson, RK; Crain, D; Curley, E; Gardner, J; Lau, K; Mallery, D; Morris, S; Paulauskis, J; Penny, R; Shelton, C; Shelton, T; Sherman, M; Thompson, E; Yena, P; Bowen, J; Gastier-Foster, JM; Gerken, M; Leraas, KM; Lichtenberg, TM; Ramirez, NC; Wise, L; Zmuda, E; Corcoran, N; Costello, T; Hovens, C; Carvalho, AL; de Carvalho, AC; Fregnani, JH; Longatto-Filho, A; Reis, RM; Scapulatempo-Neto, C; Silveira, HCS; Vidal, DO; Burnette, A; Eschbacher, J; Hermes, B; Noss, A; Singh, R; Anderson, ML; Castro, PD; Ittmann, M; Huntsman, D; Kohl, B; Le, X; Thorp, R; Andry, C; Duffy, ER; Lyadov, V; Paklina, O; Setdikova, G; Shabunin, A; Tavobilov, M; McPherson, C; Warnick, R; Berkowitz, R; Cramer, D; Feltmate, C; Horowitz, N; Kibel, A; Muto, M; Raut, CP; Malykh, A; Barnholtz-Sloan, JS; Barrett, W; Devine, K; Fulop, J; Ostrom, QT; Shimmel, K; Wolinsky, Y; Sloan, AE; De Rose, A; Giuliante, F; Goodman, M; Karlan, BY; Hagedorn, CH; Eckman, J; Harr, J; Myers, J; Tucker, K; Zach, LA; Deyarmin, B; Hu, H; Kvecher, L; Larson, C; Mural, RJ; Somiari, S; Vicha, A; Zelinka, T; Bennett, J; Iacocca, M; Rabeno, B; Swanson, P; Latour, M; Lacombe, L; Têtu, B; Bergeron, A; McGraw, M; Staugaitis, SM; Chabot, J; Hibshoosh, H; Sepulveda, A; Su, T; Wang, T; Potapova, O; Voronina, O; Desjardins, L; Mariani, O; Roman-Roman, S; Sastre, X; Stern, M-H; Signoretti, S; Berchuck, A; Bigner, D; Lipp, E; Marks, J; McCall, S; McLendon, R; Secord, A; Sharp, A; Behera, M; Brat, DJ; Chen, A; Delman, K; Force, S; Khuri, F; Magliocca, K; Maithel, S; Olson, JJ; Owonikoko, T; Pickens, A; Ramalingam, S; Shin, DM; Sica, G; Van Meir, EG; Zhang, H; Eijckenboom, W; Gillis, A; Korpershoek, E; Looijenga, L; Oosterhuis, W; Stoop, H; van Kessel, KE; Zwarthoff, EC; Calatozzolo, C; Cuppini, L; Cuzzubbo, S; DiMeco, F; Finocchiaro, G; Mattei, L; Perin, A; Pollo, B; Chen, C; Houck, J; Lohavanichbutr, P; Hartmann, A; Stoehr, C; Stoehr, R; Taubert, H; Wach, S; Wullich, B; Kycler, W; Murawa, D; Wiznerowicz, M; Chung, K; Edenfield, WJ; Martin, J; Baudin, E; Bubley, G; Bueno, R; De Rienzo, A; Richards, WG; Kalkanis, S; Mikkelsen, T; Noushmehr, H; Scarpace, L; Girard, N; Aymerich, M; Campo, E; Giné, E; Guillermo, AL; Van Bang, N; Hanh, PT; Phu, BD; Tang, Y; Colman, H; Evason, K; Dottino, PR; Martignetti, JA; Gabra, H; Juhl, H; Akeredolu, T; Stepa, S; Hoon, D; Ahn, K; Kang, KJ; Beuschlein, F; Breggia, A; Birrer, M; Bell, D; Borad, M; Bryce, AH; Castle, E; Chandan, V; Cheville, J; Copland, JA; Farnell, M; Flotte, T; Giama, N; Ho, T; Kendrick, M; Kocher, J-P; Kopp, K; Moser, C; Nagorney, D; O’Brien, D; O’Neill, BP; Patel, T; Petersen, G; Que, F; Rivera, M; Roberts, L; Smallridge, R; Smyrk, T; Stanton, M; Thompson, RH; Torbenson, M; Yang, JD; Zhang, L; Brimo, F; Ajani, JA; Gonzalez, AMA; Behrens, C; Bondaruk, J; Broaddus, R; Czerniak, B; Esmaeli, B; Fujimoto, J; Gershenwald, J; Guo, C; Lazar, AJ; Logothetis, C; Meric-Bernstam, F; Moran, C; Ramondetta, L; Rice, D; Sood, A; Tamboli, P; Thompson, T; Troncoso, P; Tsao, A; Wistuba, I; Carter, C; Haydu, L; Hersey, P; Jakrot, V; Kakavand, H; Kefford, R; Lee, K; Long, G; Mann, G; Quinn, M; Saw, R; Scolyer, R; Shannon, K; Spillane, A; Stretch, J; Synott, M; Thompson, J; Wilmott, J; Al-Ahmadie, H; Chan, TA et al.
MLA Citation
Peng, X, Chen, Z, Farshidfar, F, Xu, X, Lorenzi, PL, Wang, Y, Cheng, F, Tan, L, Mojumdar, K, Du, D, Ge, Z, Li, J, Thomas, GV, Birsoy, K, Liu, L, Zhang, H, Zhao, Z, Marchand, C, Weinstein, JN, Bathe, OF, Liang, H, Caesar-Johnson, SJ, Demchok, JA, Felau, I, Kasapi, M, Ferguson, ML, Hutter, CM, Sofia, HJ, Tarnuzzer, R, Wang, Z, Yang, L, Zenklusen, JC, Zhang, JJ, Chudamani, S, Liu, J, Lolla, L, Naresh, R, Pihl, T, Sun, Q, Wan, Y, Wu, Y, Cho, J, DeFreitas, T, Frazer, S, Gehlenborg, N, Getz, G, Heiman, DI, Kim, J, Lawrence, MS, Lin, P, Meier, S, Noble, MS, Saksena, G, Voet, D, Zhang, H, Bernard, B, Chambwe, N, Dhankani, V, Knijnenburg, T, Kramer, R, Leinonen, K, Liu, Y, Miller, M, Reynolds, S, Shmulevich, I, Thorsson, V, Zhang, W, Akbani, R, Broom, BM, Hegde, AM, Ju, Z, Kanchi, RS, Korkut, A, Ling, S, Liu, W, Lu, Y, Mills, GB, Ng, K-S, Rao, A, Ryan, M, Wang, J, Zhang, J, Abeshouse, A, Armenia, J, Chakravarty, D, Chatila, WK, de Bruijn, I, Gao, J, Gross, BE, Heins, ZJ, Kundra, R, La, K, Ladanyi, M, Luna, A, Nissan, MG, Ochoa, A, Phillips, SM, Reznik, E, Sanchez-Vega, F, Sander, C, Schultz, N, Sheridan, R, Sumer, SO, Sun, Y, Taylor, BS, Wang, J, Zhang, H, Anur, P, Peto, M, Spellman, P, Benz, C, Stuart, JM, Wong, CK, Yau, C, Hayes, DN, Parker, JS, Wilkerson, MD, Ally, A, Balasundaram, M, Bowlby, R, Brooks, D, Carlsen, R, Chuah, E, Dhalla, N, Holt, R, Jones, SJM, Kasaian, K, Lee, D, Ma, Y, Marra, MA, Mayo, M, Moore, RA, Mungall, AJ, Mungall, K, Robertson, AG, Sadeghi, S, Schein, JE, Sipahimalani, P, Tam, A, Thiessen, N, Tse, K, Wong, T, Berger, AC, Beroukhim, R, Cherniack, AD, Cibulskis, C, Gabriel, SB, Gao, GF, Ha, G, Meyerson, M, Schumacher, SE, Shih, J, Kucherlapati, MH, Kucherlapati, RS, Baylin, S, Cope, L, Danilova, L, Bootwalla, MS, Lai, PH, Maglinte, DT, Van Den Berg, DJ, Weisenberger, DJ, Auman, JT, Balu, S, Bodenheimer, T, Fan, C, Hoadley, KA, Hoyle, AP, Jefferys, SR, Jones, CD, Meng, S, Mieczkowski, PA, Mose, LE, Perou, AH, Perou, CM, Roach, J, Shi, Y, Simons, JV, Skelly, T, Soloway, MG, Tan, D, Veluvolu, U, Fan, H, Hinoue, T, Laird, PW, Shen, H, Zhou, W, Bellair, M, Chang, K, Covington, K, Creighton, CJ, Dinh, H, Doddapaneni, H, Donehower, LA, Drummond, J, Gibbs, RA, Glenn, R, Hale, W, Han, Y, Hu, J, Korchina, V, Lee, S, Lewis, L, Li, W, Liu, X, Morgan, M, Morton, D, Muzny, D, Santibanez, J, Sheth, M, Shinbrot, E, Wang, L, Wang, M, Wheeler, DA, Xi, L, Zhao, F, Hess, J, Appelbaum, EL, Bailey, M, Cordes, MG, Ding, L, Fronick, CC, Fulton, LA, Fulton, RS, Kandoth, C, Mardis, ER, McLellan, MD, Miller, CA, Schmidt, HK, Wilson, RK, Crain, D, Curley, E, Gardner, J, Lau, K, Mallery, D, Morris, S, Paulauskis, J, Penny, R, Shelton, C, Shelton, T, Sherman, M, Thompson, E, Yena, P, Bowen, J, Gastier-Foster, JM, Gerken, M, Leraas, KM, Lichtenberg, TM, Ramirez, NC, Wise, L, Zmuda, E, Corcoran, N, Costello, T, Hovens, C, Carvalho, AL, de Carvalho, AC, Fregnani, JH, Longatto-Filho, A, Reis, RM, Scapulatempo-Neto, C, Silveira, HCS, Vidal, DO, Burnette, A, Eschbacher, J, Hermes, B, Noss, A, Singh, R, Anderson, ML, Castro, PD, Ittmann, M, Huntsman, D, Kohl, B, Le, X, Thorp, R, Andry, C, Duffy, ER, Lyadov, V, Paklina, O, Setdikova, G, Shabunin, A, Tavobilov, M, McPherson, C, Warnick, R, Berkowitz, R, Cramer, D, Feltmate, C, Horowitz, N, Kibel, A, Muto, M, Raut, CP, Malykh, A, Barnholtz-Sloan, JS, Barrett, W, Devine, K, Fulop, J, Ostrom, QT, Shimmel, K, Wolinsky, Y, Sloan, AE, De Rose, A, Giuliante, F, Goodman, M, Karlan, BY, Hagedorn, CH, Eckman, J, Harr, J, Myers, J, Tucker, K, Zach, LA, Deyarmin, B, Hu, H, Kvecher, L, Larson, C, Mural, RJ, Somiari, S, Vicha, A, Zelinka, T, Bennett, J, Iacocca, M, Rabeno, B, Swanson, P, Latour, M, Lacombe, L, Têtu, B, Bergeron, A, McGraw, M, Staugaitis, SM, Chabot, J, Hibshoosh, H, Sepulveda, A, Su, T, Wang, T, Potapova, O, Voronina, O, Desjardins, L, Mariani, O, Roman-Roman, S, Sastre, X, Stern, M-H, Signoretti, S, Berchuck, A, Bigner, D, Lipp, E, Marks, J, McCall, S, McLendon, R, Secord, A, Sharp, A, Behera, M, Brat, DJ, Chen, A, Delman, K, Force, S, Khuri, F, Magliocca, K, Maithel, S, Olson, JJ, Owonikoko, T, Pickens, A, Ramalingam, S, Shin, DM, Sica, G, Van Meir, EG, Zhang, H, Eijckenboom, W, Gillis, A, Korpershoek, E, Looijenga, L, Oosterhuis, W, Stoop, H, van Kessel, KE, Zwarthoff, EC, Calatozzolo, C, Cuppini, L, Cuzzubbo, S, DiMeco, F, Finocchiaro, G, Mattei, L, Perin, A, Pollo, B, Chen, C, Houck, J, Lohavanichbutr, P, Hartmann, A, Stoehr, C, Stoehr, R, Taubert, H, Wach, S, Wullich, B, Kycler, W, Murawa, D, Wiznerowicz, M, Chung, K, Edenfield, WJ, Martin, J, Baudin, E, Bubley, G, Bueno, R, De Rienzo, A, Richards, WG, Kalkanis, S, Mikkelsen, T, Noushmehr, H, Scarpace, L, Girard, N, Aymerich, M, Campo, E, Giné, E, Guillermo, AL, Van Bang, N, Hanh, PT, Phu, BD, Tang, Y, Colman, H, Evason, K, Dottino, PR, Martignetti, JA, Gabra, H, Juhl, H, Akeredolu, T, Stepa, S, Hoon, D, Ahn, K, Kang, KJ, Beuschlein, F, Breggia, A, Birrer, M, Bell, D, Borad, M, Bryce, AH, Castle, E, Chandan, V, Cheville, J, Copland, JA, Farnell, M, Flotte, T, Giama, N, Ho, T, Kendrick, M, Kocher, J-P, Kopp, K, Moser, C, Nagorney, D, O’Brien, D, O’Neill, BP, Patel, T, Petersen, G, Que, F, Rivera, M, Roberts, L, Smallridge, R, Smyrk, T, Stanton, M, Thompson, RH, Torbenson, M, Yang, JD, Zhang, L, Brimo, F, Ajani, JA, Gonzalez, AMA, Behrens, C, Bondaruk, J, Broaddus, R, Czerniak, B, Esmaeli, B, Fujimoto, J, Gershenwald, J, Guo, C, Lazar, AJ, Logothetis, C, Meric-Bernstam, F, Moran, C, Ramondetta, L, Rice, D, Sood, A, Tamboli, P, Thompson, T, Troncoso, P, Tsao, A, Wistuba, I, Carter, C, Haydu, L, Hersey, P, Jakrot, V, Kakavand, H, Kefford, R, Lee, K, Long, G, Mann, G, Quinn, M, Saw, R, Scolyer, R, Shannon, K, Spillane, A, Stretch, J, Synott, M, Thompson, J, Wilmott, J, Al-Ahmadie, H, and Chan, TA et al.. "Molecular Characterization and Clinical Relevance of Metabolic Expression Subtypes in Human Cancers." Cell Reports 23.1 (April 2018): 255-269.e4.
Source
crossref
Published In
Cell Reports
Volume
23
Issue
1
Publish Date
2018
Start Page
255
End Page
269.e4
DOI
10.1016/j.celrep.2018.03.077

Genomic, Pathway Network, and Immunologic Features Distinguishing Squamous Carcinomas

Authors
Campbell, JD; Yau, C; Bowlby, R; Liu, Y; Brennan, K; Fan, H; Taylor, AM; Wang, C; Walter, V; Akbani, R; Byers, LA; Creighton, CJ; Coarfa, C; Shih, J; Cherniack, AD; Gevaert, O; Prunello, M; Shen, H; Anur, P; Chen, J; Cheng, H; Hayes, DN; Bullman, S; Pedamallu, CS; Ojesina, AI; Sadeghi, S; Mungall, KL; Robertson, AG; Benz, C; Schultz, A; Kanchi, RS; Gay, CM; Hegde, A; Diao, L; Wang, J; Ma, W; Sumazin, P; Chiu, H-S; Chen, T-W; Gunaratne, P; Donehower, L; Rader, JS; Zuna, R; Al-Ahmadie, H; Lazar, AJ; Flores, ER; Tsai, KY; Zhou, JH; Rustgi, AK; Drill, E; Shen, R; Wong, CK; Stuart, JM; Laird, PW; Hoadley, KA; Weinstein, JN; Peto, M; Pickering, CR; Chen, Z; Van Waes, C; Caesar-Johnson, SJ; Demchok, JA; Felau, I; Kasapi, M; Ferguson, ML; Hutter, CM; Sofia, HJ; Tarnuzzer, R; Wang, Z; Yang, L; Zenklusen, JC; Zhang, JJ; Chudamani, S; Liu, J; Lolla, L; Naresh, R; Pihl, T; Sun, Q; Wan, Y; Wu, Y; Cho, J; DeFreitas, T; Frazer, S; Gehlenborg, N; Getz, G; Heiman, DI; Kim, J; Lawrence, MS; Lin, P; Meier, S; Noble, MS; Saksena, G; Voet, D; Zhang, H; Bernard, B; Chambwe, N; Dhankani, V; Knijnenburg, T; Kramer, R; Leinonen, K; Miller, M; Reynolds, S; Shmulevich, I; Thorsson, V; Zhang, W; Broom, BM; Hegde, AM; Ju, Z; Korkut, A; Li, J; Liang, H; Ling, S; Liu, W; Lu, Y; Mills, GB; Ng, K-S; Rao, A; Ryan, M; Zhang, J; Abeshouse, A; Armenia, J; Chakravarty, D; Chatila, WK; de Bruijn, I; Gao, J; Gross, BE; Heins, ZJ; Kundra, R; La, K; Ladanyi, M; Luna, A; Nissan, MG; Ochoa, A; Phillips, SM; Reznik, E; Sanchez-Vega, F; Sander, C; Schultz, N; Sheridan, R; Sumer, SO; Sun, Y; Taylor, BS; Wang, J; Zhang, H; Spellman, P; Parker, JS; Wilkerson, MD; Ally, A; Balasundaram, M; Brooks, D; Carlsen, R; Chuah, E; Dhalla, N; Holt, R; Jones, SJM; Kasaian, K; Lee, D; Ma, Y; Marra, MA; Mayo, M; Moore, RA; Mungall, AJ; Mungall, K; Schein, JE; Sipahimalani, P; Tam, A; Thiessen, N; Tse, K; Wong, T; Berger, AC; Beroukhim, R; Cibulskis, C; Gabriel, SB; Gao, GF; Ha, G; Meyerson, M; Schumacher, SE; Kucherlapati, MH; Kucherlapati, RS; Baylin, S; Cope, L; Danilova, L; Bootwalla, MS; Lai, PH; Maglinte, DT; Van Den Berg, DJ; Weisenberger, DJ; Auman, JT; Balu, S; Bodenheimer, T; Fan, C; Hoyle, AP; Jefferys, SR; Jones, CD; Meng, S; Mieczkowski, PA; Mose, LE; Perou, AH; Perou, CM; Roach, J; Shi, Y; Simons, JV; Skelly, T; Soloway, MG; Tan, D; Veluvolu, U; Hinoue, T; Zhou, W; Bellair, M; Chang, K; Covington, K; Dinh, H; Doddapaneni, H; Donehower, LA; Drummond, J; Gibbs, RA; Glenn, R; Hale, W; Han, Y; Hu, J; Korchina, V; Lee, S; Lewis, L; Li, W; Liu, X; Morgan, M; Morton, D; Muzny, D; Santibanez, J; Sheth, M; Shinbrot, E; Wang, L; Wang, M; Wheeler, DA; Xi, L; Zhao, F; Hess, J; Appelbaum, EL; Bailey, M; Cordes, MG; Ding, L; Fronick, CC; Fulton, LA; Fulton, RS; Kandoth, C; Mardis, ER; McLellan, MD; Miller, CA; Schmidt, HK; Wilson, RK; Crain, D; Curley, E; Gardner, J; Lau, K; Mallery, D; Morris, S; Paulauskis, J; Penny, R; Shelton, C; Shelton, T; Sherman, M; Thompson, E; Yena, P; Bowen, J; Gastier-Foster, JM; Gerken, M; Leraas, KM; Lichtenberg, TM; Ramirez, NC; Wise, L; Zmuda, E; Corcoran, N; Costello, T; Hovens, C; Carvalho, AL; de Carvalho, AC; Fregnani, JH; Longatto-Filho, A; Reis, RM; Scapulatempo-Neto, C; Silveira, HCS; Vidal, DO; Burnette, A; Eschbacher, J; Hermes, B; Noss, A; Singh, R; Anderson, ML; Castro, PD; Ittmann, M; Huntsman, D; Kohl, B; Le, X; Thorp, R; Andry, C; Duffy, ER; Lyadov, V; Paklina, O; Setdikova, G; Shabunin, A; Tavobilov, M; McPherson, C; Warnick, R; Berkowitz, R; Cramer, D; Feltmate, C; Horowitz, N; Kibel, A; Muto, M; Raut, CP; Malykh, A; Barnholtz-Sloan, JS; Barrett, W; Devine, K; Fulop, J; Ostrom, QT; Shimmel, K; Wolinsky, Y; Sloan, AE; De Rose, A; Giuliante, F; Goodman, M; Karlan, BY; Hagedorn, CH; Eckman, J; Harr, J; Myers, J; Tucker, K; Zach, LA; Deyarmin, B; Hu, H; Kvecher, L; Larson, C; Mural, RJ; Somiari, S; Vicha, A; Zelinka, T; Bennett, J; Iacocca, M; Rabeno, B; Swanson, P; Latour, M; Lacombe, L; Têtu, B; Bergeron, A; McGraw, M; Staugaitis, SM; Chabot, J; Hibshoosh, H; Sepulveda, A; Su, T; Wang, T; Potapova, O; Voronina, O; Desjardins, L; Mariani, O; Roman-Roman, S; Sastre, X; Stern, M-H; Cheng, F; Signoretti, S; Berchuck, A; Bigner, D; Lipp, E; Marks, J; McCall, S; McLendon, R; Secord, A; Sharp, A; Behera, M; Brat, DJ; Chen, A; Delman, K; Force, S; Khuri, F; Magliocca, K; Maithel, S; Olson, JJ; Owonikoko, T; Pickens, A; Ramalingam, S; Shin, DM; Sica, G; Van Meir, EG; Zhang, H; Eijckenboom, W; Gillis, A; Korpershoek, E; Looijenga, L; Oosterhuis, W; Stoop, H; van Kessel, KE; Zwarthoff, EC; Calatozzolo, C; Cuppini, L; Cuzzubbo, S; DiMeco, F; Finocchiaro, G; Mattei, L; Perin, A; Pollo, B; Chen, C; Houck, J; Lohavanichbutr, P; Hartmann, A; Stoehr, C; Stoehr, R; Taubert, H; Wach, S; Wullich, B; Kycler, W; Murawa, D; Wiznerowicz, M; Chung, K; Edenfield, WJ; Martin, J; Baudin, E; Bubley, G; Bueno, R; De Rienzo, A; Richards, WG; Kalkanis, S; Mikkelsen, T; Noushmehr, H; Scarpace, L; Girard, N; Aymerich, M; Campo, E; Giné, E; Guillermo, AL; Van Bang, N; Hanh, PT; Phu, BD; Tang, Y; Colman, H; Evason, K; Dottino, PR; Martignetti, JA; Gabra, H; Juhl, H; Akeredolu, T; Stepa, S; Hoon, D; Ahn, K; Kang, KJ; Beuschlein, F; Breggia, A; Birrer, M; Bell, D; Borad, M; Bryce, AH; Castle, E; Chandan, V; Cheville, J; Copland, JA; Farnell, M; Flotte, T; Giama, N; Ho, T; Kendrick, M; Kocher, J-P; Kopp, K; Moser, C; Nagorney, D; O’Brien, D; O’Neill, BP; Patel, T; Petersen, G; Que, F; Rivera, M; Roberts, L; Smallridge, R; Smyrk, T; Stanton, M; Thompson, RH; Torbenson, M; Yang, JD; Zhang, L; Brimo, F; Ajani, JA; Gonzalez, AMA; Behrens, C; Bondaruk, J; Broaddus, R; Czerniak, B; Esmaeli, B; Fujimoto, J; Gershenwald, J; Guo, C; Logothetis, C; Meric-Bernstam, F; Moran, C; Ramondetta, L; Rice, D; Sood, A; Tamboli, P; Thompson, T; Troncoso, P; Tsao, A; Wistuba, I et al.
MLA Citation
Campbell, JD, Yau, C, Bowlby, R, Liu, Y, Brennan, K, Fan, H, Taylor, AM, Wang, C, Walter, V, Akbani, R, Byers, LA, Creighton, CJ, Coarfa, C, Shih, J, Cherniack, AD, Gevaert, O, Prunello, M, Shen, H, Anur, P, Chen, J, Cheng, H, Hayes, DN, Bullman, S, Pedamallu, CS, Ojesina, AI, Sadeghi, S, Mungall, KL, Robertson, AG, Benz, C, Schultz, A, Kanchi, RS, Gay, CM, Hegde, A, Diao, L, Wang, J, Ma, W, Sumazin, P, Chiu, H-S, Chen, T-W, Gunaratne, P, Donehower, L, Rader, JS, Zuna, R, Al-Ahmadie, H, Lazar, AJ, Flores, ER, Tsai, KY, Zhou, JH, Rustgi, AK, Drill, E, Shen, R, Wong, CK, Stuart, JM, Laird, PW, Hoadley, KA, Weinstein, JN, Peto, M, Pickering, CR, Chen, Z, Van Waes, C, Caesar-Johnson, SJ, Demchok, JA, Felau, I, Kasapi, M, Ferguson, ML, Hutter, CM, Sofia, HJ, Tarnuzzer, R, Wang, Z, Yang, L, Zenklusen, JC, Zhang, JJ, Chudamani, S, Liu, J, Lolla, L, Naresh, R, Pihl, T, Sun, Q, Wan, Y, Wu, Y, Cho, J, DeFreitas, T, Frazer, S, Gehlenborg, N, Getz, G, Heiman, DI, Kim, J, Lawrence, MS, Lin, P, Meier, S, Noble, MS, Saksena, G, Voet, D, Zhang, H, Bernard, B, Chambwe, N, Dhankani, V, Knijnenburg, T, Kramer, R, Leinonen, K, Miller, M, Reynolds, S, Shmulevich, I, Thorsson, V, Zhang, W, Broom, BM, Hegde, AM, Ju, Z, Korkut, A, Li, J, Liang, H, Ling, S, Liu, W, Lu, Y, Mills, GB, Ng, K-S, Rao, A, Ryan, M, Zhang, J, Abeshouse, A, Armenia, J, Chakravarty, D, Chatila, WK, de Bruijn, I, Gao, J, Gross, BE, Heins, ZJ, Kundra, R, La, K, Ladanyi, M, Luna, A, Nissan, MG, Ochoa, A, Phillips, SM, Reznik, E, Sanchez-Vega, F, Sander, C, Schultz, N, Sheridan, R, Sumer, SO, Sun, Y, Taylor, BS, Wang, J, Zhang, H, Spellman, P, Parker, JS, Wilkerson, MD, Ally, A, Balasundaram, M, Brooks, D, Carlsen, R, Chuah, E, Dhalla, N, Holt, R, Jones, SJM, Kasaian, K, Lee, D, Ma, Y, Marra, MA, Mayo, M, Moore, RA, Mungall, AJ, Mungall, K, Schein, JE, Sipahimalani, P, Tam, A, Thiessen, N, Tse, K, Wong, T, Berger, AC, Beroukhim, R, Cibulskis, C, Gabriel, SB, Gao, GF, Ha, G, Meyerson, M, Schumacher, SE, Kucherlapati, MH, Kucherlapati, RS, Baylin, S, Cope, L, Danilova, L, Bootwalla, MS, Lai, PH, Maglinte, DT, Van Den Berg, DJ, Weisenberger, DJ, Auman, JT, Balu, S, Bodenheimer, T, Fan, C, Hoyle, AP, Jefferys, SR, Jones, CD, Meng, S, Mieczkowski, PA, Mose, LE, Perou, AH, Perou, CM, Roach, J, Shi, Y, Simons, JV, Skelly, T, Soloway, MG, Tan, D, Veluvolu, U, Hinoue, T, Zhou, W, Bellair, M, Chang, K, Covington, K, Dinh, H, Doddapaneni, H, Donehower, LA, Drummond, J, Gibbs, RA, Glenn, R, Hale, W, Han, Y, Hu, J, Korchina, V, Lee, S, Lewis, L, Li, W, Liu, X, Morgan, M, Morton, D, Muzny, D, Santibanez, J, Sheth, M, Shinbrot, E, Wang, L, Wang, M, Wheeler, DA, Xi, L, Zhao, F, Hess, J, Appelbaum, EL, Bailey, M, Cordes, MG, Ding, L, Fronick, CC, Fulton, LA, Fulton, RS, Kandoth, C, Mardis, ER, McLellan, MD, Miller, CA, Schmidt, HK, Wilson, RK, Crain, D, Curley, E, Gardner, J, Lau, K, Mallery, D, Morris, S, Paulauskis, J, Penny, R, Shelton, C, Shelton, T, Sherman, M, Thompson, E, Yena, P, Bowen, J, Gastier-Foster, JM, Gerken, M, Leraas, KM, Lichtenberg, TM, Ramirez, NC, Wise, L, Zmuda, E, Corcoran, N, Costello, T, Hovens, C, Carvalho, AL, de Carvalho, AC, Fregnani, JH, Longatto-Filho, A, Reis, RM, Scapulatempo-Neto, C, Silveira, HCS, Vidal, DO, Burnette, A, Eschbacher, J, Hermes, B, Noss, A, Singh, R, Anderson, ML, Castro, PD, Ittmann, M, Huntsman, D, Kohl, B, Le, X, Thorp, R, Andry, C, Duffy, ER, Lyadov, V, Paklina, O, Setdikova, G, Shabunin, A, Tavobilov, M, McPherson, C, Warnick, R, Berkowitz, R, Cramer, D, Feltmate, C, Horowitz, N, Kibel, A, Muto, M, Raut, CP, Malykh, A, Barnholtz-Sloan, JS, Barrett, W, Devine, K, Fulop, J, Ostrom, QT, Shimmel, K, Wolinsky, Y, Sloan, AE, De Rose, A, Giuliante, F, Goodman, M, Karlan, BY, Hagedorn, CH, Eckman, J, Harr, J, Myers, J, Tucker, K, Zach, LA, Deyarmin, B, Hu, H, Kvecher, L, Larson, C, Mural, RJ, Somiari, S, Vicha, A, Zelinka, T, Bennett, J, Iacocca, M, Rabeno, B, Swanson, P, Latour, M, Lacombe, L, Têtu, B, Bergeron, A, McGraw, M, Staugaitis, SM, Chabot, J, Hibshoosh, H, Sepulveda, A, Su, T, Wang, T, Potapova, O, Voronina, O, Desjardins, L, Mariani, O, Roman-Roman, S, Sastre, X, Stern, M-H, Cheng, F, Signoretti, S, Berchuck, A, Bigner, D, Lipp, E, Marks, J, McCall, S, McLendon, R, Secord, A, Sharp, A, Behera, M, Brat, DJ, Chen, A, Delman, K, Force, S, Khuri, F, Magliocca, K, Maithel, S, Olson, JJ, Owonikoko, T, Pickens, A, Ramalingam, S, Shin, DM, Sica, G, Van Meir, EG, Zhang, H, Eijckenboom, W, Gillis, A, Korpershoek, E, Looijenga, L, Oosterhuis, W, Stoop, H, van Kessel, KE, Zwarthoff, EC, Calatozzolo, C, Cuppini, L, Cuzzubbo, S, DiMeco, F, Finocchiaro, G, Mattei, L, Perin, A, Pollo, B, Chen, C, Houck, J, Lohavanichbutr, P, Hartmann, A, Stoehr, C, Stoehr, R, Taubert, H, Wach, S, Wullich, B, Kycler, W, Murawa, D, Wiznerowicz, M, Chung, K, Edenfield, WJ, Martin, J, Baudin, E, Bubley, G, Bueno, R, De Rienzo, A, Richards, WG, Kalkanis, S, Mikkelsen, T, Noushmehr, H, Scarpace, L, Girard, N, Aymerich, M, Campo, E, Giné, E, Guillermo, AL, Van Bang, N, Hanh, PT, Phu, BD, Tang, Y, Colman, H, Evason, K, Dottino, PR, Martignetti, JA, Gabra, H, Juhl, H, Akeredolu, T, Stepa, S, Hoon, D, Ahn, K, Kang, KJ, Beuschlein, F, Breggia, A, Birrer, M, Bell, D, Borad, M, Bryce, AH, Castle, E, Chandan, V, Cheville, J, Copland, JA, Farnell, M, Flotte, T, Giama, N, Ho, T, Kendrick, M, Kocher, J-P, Kopp, K, Moser, C, Nagorney, D, O’Brien, D, O’Neill, BP, Patel, T, Petersen, G, Que, F, Rivera, M, Roberts, L, Smallridge, R, Smyrk, T, Stanton, M, Thompson, RH, Torbenson, M, Yang, JD, Zhang, L, Brimo, F, Ajani, JA, Gonzalez, AMA, Behrens, C, Bondaruk, J, Broaddus, R, Czerniak, B, Esmaeli, B, Fujimoto, J, Gershenwald, J, Guo, C, Logothetis, C, Meric-Bernstam, F, Moran, C, Ramondetta, L, Rice, D, Sood, A, Tamboli, P, Thompson, T, Troncoso, P, Tsao, A, and Wistuba, I et al.. "Genomic, Pathway Network, and Immunologic Features Distinguishing Squamous Carcinomas." Cell Reports 23.1 (April 2018): 194-212.e6.
Source
crossref
Published In
Cell Reports
Volume
23
Issue
1
Publish Date
2018
Start Page
194
End Page
212.e6
DOI
10.1016/j.celrep.2018.03.063

lncRNA Epigenetic Landscape Analysis Identifies EPIC1 as an Oncogenic lncRNA that Interacts with MYC and Promotes Cell-Cycle Progression in Cancer

Authors
Wang, Z; Yang, B; Zhang, M; Guo, W; Wu, Z; Wang, Y; Jia, L; Li, S; Xie, W; Yang, D; Caesar-Johnson, SJ; Demchok, JA; Felau, I; Kasapi, M; Ferguson, ML; Hutter, CM; Sofia, HJ; Tarnuzzer, R; Wang, Z; Yang, L; Zenklusen, JC; Zhang, JJ; Chudamani, S; Liu, J; Lolla, L; Naresh, R; Pihl, T; Sun, Q; Wan, Y; Wu, Y; Cho, J; DeFreitas, T; Frazer, S; Gehlenborg, N; Getz, G; Heiman, DI; Kim, J; Lawrence, MS; Lin, P; Meier, S; Noble, MS; Saksena, G; Voet, D; Zhang, H; Bernard, B; Chambwe, N; Dhankani, V; Knijnenburg, T; Kramer, R; Leinonen, K; Liu, Y; Miller, M; Reynolds, S; Shmulevich, I; Thorsson, V; Zhang, W; Akbani, R; Broom, BM; Hegde, AM; Ju, Z; Kanchi, RS; Korkut, A; Li, J; Liang, H; Ling, S; Liu, W; Lu, Y; Mills, GB; Ng, K-S; Rao, A; Ryan, M; Wang, J; Weinstein, JN; Zhang, J; Abeshouse, A; Armenia, J; Chakravarty, D; Chatila, WK; Bruijn, I; Gao, J; Gross, BE; Heins, ZJ; Kundra, R; La, K; Ladanyi, M; Luna, A; Nissan, MG; Ochoa, A; Phillips, SM; Reznik, E; Sanchez-Vega, F; Sander, C; Schultz, N; Sheridan, R; Sumer, SO; Sun, Y; Taylor, BS; Wang, J; Zhang, H; Anur, P; Peto, M; Spellman, P; Benz, C; Stuart, JM; Wong, CK; Yau, C; Hayes, DN; Parker, JS; Wilkerson, MD; Ally, A; Balasundaram, M; Bowlby, R; Brooks, D; Carlsen, R; Chuah, E; Dhalla, N; Holt, R; Jones, SJM; Kasaian, K; Lee, D; Ma, Y; Marra, MA; Mayo, M; Moore, RA; Mungall, AJ; Mungall, K; Robertson, AG; Sadeghi, S; Schein, JE; Sipahimalani, P; Tam, A; Thiessen, N; Tse, K; Wong, T; Berger, AC; Beroukhim, R; Cherniack, AD; Cibulskis, C; Gabriel, SB; Gao, GF; Ha, G; Meyerson, M; Schumacher, SE; Shih, J; Kucherlapati, MH; Kucherlapati, RS; Baylin, S; Cope, L; Danilova, L; Bootwalla, MS; Lai, PH; Maglinte, DT; Van Den Berg, DJ; Weisenberger, DJ; Auman, JT; Balu, S; Bodenheimer, T; Fan, C; Hoadley, KA; Hoyle, AP; Jefferys, SR; Jones, CD; Meng, S; Mieczkowski, PA; Mose, LE; Perou, AH; Perou, CM; Roach, J; Shi, Y; Simons, JV; Skelly, T; Soloway, MG; Tan, D; Veluvolu, U; Fan, H; Hinoue, T; Laird, PW; Shen, H; Zhou, W; Bellair, M; Chang, K; Covington, K; Creighton, CJ; Dinh, H; Doddapaneni, H; Donehower, LA; Drummond, J; Gibbs, RA; Glenn, R; Hale, W; Han, Y; Hu, J; Korchina, V; Lee, S; Lewis, L; Li, W; Liu, X; Morgan, M; Morton, D; Muzny, D; Santibanez, J; Sheth, M; Shinbrot, E; Wang, L; Wang, M; Wheeler, DA; Xi, L; Zhao, F; Hess, J; Appelbaum, EL; Bailey, M; Cordes, MG; Ding, L; Fronick, CC; Fulton, LA; Fulton, RS; Kandoth, C; Mardis, ER; McLellan, MD; Miller, CA; Schmidt, HK; Wilson, RK; Crain, D; Curley, E; Gardner, J; Lau, K; Mallery, D; Morris, S; Paulauskis, J; Penny, R; Shelton, C; Shelton, T; Sherman, M; Thompson, E; Yena, P; Bowen, J; Gastier-Foster, JM; Gerken, M; Leraas, KM; Lichtenberg, TM; Ramirez, NC; Wise, L; Zmuda, E; Corcoran, N; Costello, T; Hovens, C; Carvalho, AL; de Carvalho, AC; Fregnani, JH; Longatto-Filho, A; Reis, RM; Scapulatempo-Neto, C; Silveira, HCS; Vidal, DO; Burnette, A; Eschbacher, J; Hermes, B; Noss, A; Singh, R; Anderson, ML; Castro, PD; Ittmann, M; Huntsman, D; Kohl, B; Le, X; Thorp, R; Andry, C; Duffy, ER; Lyadov, V; Paklina, O; Setdikova, G; Shabunin, A; Tavobilov, M; McPherson, C; Warnick, R; Berkowitz, R; Cramer, D; Feltmate, C; Horowitz, N; Kibel, A; Muto, M; Raut, CP; Malykh, A; Barnholtz-Sloan, JS; Barrett, W; Devine, K; Fulop, J; Ostrom, QT; Shimmel, K; Wolinsky, Y; Sloan, AE; De Rose, A; Giuliante, F; Goodman, M; Karlan, BY; Hagedorn, CH; Eckman, J; Harr, J; Myers, J; Tucker, K; Zach, LA; Deyarmin, B; Hu, H; Kvecher, L; Larson, C; Mural, RJ; Somiari, S; Vicha, A; Zelinka, T; Bennett, J; Iacocca, M; Rabeno, B; Swanson, P; Latour, M; Lacombe, L; Têtu, B; Bergeron, A; McGraw, M; Staugaitis, SM; Chabot, J; Hibshoosh, H; Sepulveda, A; Su, T; Wang, T; Potapova, O; Voronina, O; Desjardins, L; Mariani, O; Roman-Roman, S; Sastre, X; Stern, M-H; Cheng, F; Signoretti, S; Berchuck, A; Bigner, D; Lipp, E; Marks, J; McCall, S; McLendon, R; Secord, A; Sharp, A; Behera, M; Brat, DJ; Chen, A; Delman, K; Force, S; Khuri, F; Magliocca, K; Maithel, S; Olson, JJ; Owonikoko, T; Pickens, A; Ramalingam, S; Shin, DM; Sica, G; Van Meir, EG; Zhang, H; Eijckenboom, W; Gillis, A; Korpershoek, E; Looijenga, L; Oosterhuis, W; Stoop, H; van Kessel, KE; Zwarthoff, EC; Calatozzolo, C; Cuppini, L; Cuzzubbo, S; DiMeco, F; Finocchiaro, G; Mattei, L; Perin, A; Pollo, B; Chen, C; Houck, J; Lohavanichbutr, P; Hartmann, A; Stoehr, C; Stoehr, R; Taubert, H; Wach, S; Wullich, B; Kycler, W; Murawa, D; Wiznerowicz, M; Chung, K; Edenfield, WJ; Martin, J; Baudin, E; Bubley, G; Bueno, R; De Rienzo, A; Richards, WG; Kalkanis, S; Mikkelsen, T; Noushmehr, H; Scarpace, L; Girard, N; Aymerich, M; Campo, E; Giné, E; Guillermo, AL; Van Bang, N; Hanh, PT; Phu, BD; Tang, Y; Colman, H; Evason, K; Dottino, PR; Martignetti, JA; Gabra, H; Juhl, H; Akeredolu, T; Stepa, S; Hoon, D; Ahn, K; Kang, KJ; Beuschlein, F; Breggia, A; Birrer, M; Bell, D; Borad, M; Bryce, AH; Castle, E; Chandan, V; Cheville, J; Copland, JA; Farnell, M; Flotte, T; Giama, N; Ho, T; Kendrick, M; Kocher, J-P; Kopp, K; Moser, C; Nagorney, D; O’Brien, D; O’Neill, BP; Patel, T; Petersen, G; Que, F; Rivera, M; Roberts, L; Smallridge, R; Smyrk, T; Stanton, M; Thompson, RH; Torbenson, M; Yang, JD; Zhang, L; Brimo, F; Ajani, JA; Gonzalez, AMA; Behrens, C; Bondaruk, J; Broaddus, R; Czerniak, B; Esmaeli, B; Fujimoto, J; Gershenwald, J; Guo, C; Lazar, AJ; Logothetis, C; Meric-Bernstam, F; Moran, C; Ramondetta, L; Rice, D; Sood, A; Tamboli, P; Thompson, T; Troncoso, P; Tsao, A; Wistuba, I; Carter, C; Haydu, L; Hersey, P; Jakrot, V; Kakavand, H; Kefford, R; Lee, K; Long, G; Mann, G; Quinn, M; Saw, R; Scolyer, R; Shannon, K; Spillane, A; Stretch, J; Synott, M; Thompson, J; Wilmott, J; Al-Ahmadie, H; Chan, TA; Ghossein, R; Gopalan, A; Levine, DA; Reuter, V; Singer, S; Singh, B; Tien, NV et al.
MLA Citation
Wang, Z, Yang, B, Zhang, M, Guo, W, Wu, Z, Wang, Y, Jia, L, Li, S, Xie, W, Yang, D, Caesar-Johnson, SJ, Demchok, JA, Felau, I, Kasapi, M, Ferguson, ML, Hutter, CM, Sofia, HJ, Tarnuzzer, R, Wang, Z, Yang, L, Zenklusen, JC, Zhang, JJ, Chudamani, S, Liu, J, Lolla, L, Naresh, R, Pihl, T, Sun, Q, Wan, Y, Wu, Y, Cho, J, DeFreitas, T, Frazer, S, Gehlenborg, N, Getz, G, Heiman, DI, Kim, J, Lawrence, MS, Lin, P, Meier, S, Noble, MS, Saksena, G, Voet, D, Zhang, H, Bernard, B, Chambwe, N, Dhankani, V, Knijnenburg, T, Kramer, R, Leinonen, K, Liu, Y, Miller, M, Reynolds, S, Shmulevich, I, Thorsson, V, Zhang, W, Akbani, R, Broom, BM, Hegde, AM, Ju, Z, Kanchi, RS, Korkut, A, Li, J, Liang, H, Ling, S, Liu, W, Lu, Y, Mills, GB, Ng, K-S, Rao, A, Ryan, M, Wang, J, Weinstein, JN, Zhang, J, Abeshouse, A, Armenia, J, Chakravarty, D, Chatila, WK, Bruijn, I, Gao, J, Gross, BE, Heins, ZJ, Kundra, R, La, K, Ladanyi, M, Luna, A, Nissan, MG, Ochoa, A, Phillips, SM, Reznik, E, Sanchez-Vega, F, Sander, C, Schultz, N, Sheridan, R, Sumer, SO, Sun, Y, Taylor, BS, Wang, J, Zhang, H, Anur, P, Peto, M, Spellman, P, Benz, C, Stuart, JM, Wong, CK, Yau, C, Hayes, DN, Parker, JS, Wilkerson, MD, Ally, A, Balasundaram, M, Bowlby, R, Brooks, D, Carlsen, R, Chuah, E, Dhalla, N, Holt, R, Jones, SJM, Kasaian, K, Lee, D, Ma, Y, Marra, MA, Mayo, M, Moore, RA, Mungall, AJ, Mungall, K, Robertson, AG, Sadeghi, S, Schein, JE, Sipahimalani, P, Tam, A, Thiessen, N, Tse, K, Wong, T, Berger, AC, Beroukhim, R, Cherniack, AD, Cibulskis, C, Gabriel, SB, Gao, GF, Ha, G, Meyerson, M, Schumacher, SE, Shih, J, Kucherlapati, MH, Kucherlapati, RS, Baylin, S, Cope, L, Danilova, L, Bootwalla, MS, Lai, PH, Maglinte, DT, Van Den Berg, DJ, Weisenberger, DJ, Auman, JT, Balu, S, Bodenheimer, T, Fan, C, Hoadley, KA, Hoyle, AP, Jefferys, SR, Jones, CD, Meng, S, Mieczkowski, PA, Mose, LE, Perou, AH, Perou, CM, Roach, J, Shi, Y, Simons, JV, Skelly, T, Soloway, MG, Tan, D, Veluvolu, U, Fan, H, Hinoue, T, Laird, PW, Shen, H, Zhou, W, Bellair, M, Chang, K, Covington, K, Creighton, CJ, Dinh, H, Doddapaneni, H, Donehower, LA, Drummond, J, Gibbs, RA, Glenn, R, Hale, W, Han, Y, Hu, J, Korchina, V, Lee, S, Lewis, L, Li, W, Liu, X, Morgan, M, Morton, D, Muzny, D, Santibanez, J, Sheth, M, Shinbrot, E, Wang, L, Wang, M, Wheeler, DA, Xi, L, Zhao, F, Hess, J, Appelbaum, EL, Bailey, M, Cordes, MG, Ding, L, Fronick, CC, Fulton, LA, Fulton, RS, Kandoth, C, Mardis, ER, McLellan, MD, Miller, CA, Schmidt, HK, Wilson, RK, Crain, D, Curley, E, Gardner, J, Lau, K, Mallery, D, Morris, S, Paulauskis, J, Penny, R, Shelton, C, Shelton, T, Sherman, M, Thompson, E, Yena, P, Bowen, J, Gastier-Foster, JM, Gerken, M, Leraas, KM, Lichtenberg, TM, Ramirez, NC, Wise, L, Zmuda, E, Corcoran, N, Costello, T, Hovens, C, Carvalho, AL, de Carvalho, AC, Fregnani, JH, Longatto-Filho, A, Reis, RM, Scapulatempo-Neto, C, Silveira, HCS, Vidal, DO, Burnette, A, Eschbacher, J, Hermes, B, Noss, A, Singh, R, Anderson, ML, Castro, PD, Ittmann, M, Huntsman, D, Kohl, B, Le, X, Thorp, R, Andry, C, Duffy, ER, Lyadov, V, Paklina, O, Setdikova, G, Shabunin, A, Tavobilov, M, McPherson, C, Warnick, R, Berkowitz, R, Cramer, D, Feltmate, C, Horowitz, N, Kibel, A, Muto, M, Raut, CP, Malykh, A, Barnholtz-Sloan, JS, Barrett, W, Devine, K, Fulop, J, Ostrom, QT, Shimmel, K, Wolinsky, Y, Sloan, AE, De Rose, A, Giuliante, F, Goodman, M, Karlan, BY, Hagedorn, CH, Eckman, J, Harr, J, Myers, J, Tucker, K, Zach, LA, Deyarmin, B, Hu, H, Kvecher, L, Larson, C, Mural, RJ, Somiari, S, Vicha, A, Zelinka, T, Bennett, J, Iacocca, M, Rabeno, B, Swanson, P, Latour, M, Lacombe, L, Têtu, B, Bergeron, A, McGraw, M, Staugaitis, SM, Chabot, J, Hibshoosh, H, Sepulveda, A, Su, T, Wang, T, Potapova, O, Voronina, O, Desjardins, L, Mariani, O, Roman-Roman, S, Sastre, X, Stern, M-H, Cheng, F, Signoretti, S, Berchuck, A, Bigner, D, Lipp, E, Marks, J, McCall, S, McLendon, R, Secord, A, Sharp, A, Behera, M, Brat, DJ, Chen, A, Delman, K, Force, S, Khuri, F, Magliocca, K, Maithel, S, Olson, JJ, Owonikoko, T, Pickens, A, Ramalingam, S, Shin, DM, Sica, G, Van Meir, EG, Zhang, H, Eijckenboom, W, Gillis, A, Korpershoek, E, Looijenga, L, Oosterhuis, W, Stoop, H, van Kessel, KE, Zwarthoff, EC, Calatozzolo, C, Cuppini, L, Cuzzubbo, S, DiMeco, F, Finocchiaro, G, Mattei, L, Perin, A, Pollo, B, Chen, C, Houck, J, Lohavanichbutr, P, Hartmann, A, Stoehr, C, Stoehr, R, Taubert, H, Wach, S, Wullich, B, Kycler, W, Murawa, D, Wiznerowicz, M, Chung, K, Edenfield, WJ, Martin, J, Baudin, E, Bubley, G, Bueno, R, De Rienzo, A, Richards, WG, Kalkanis, S, Mikkelsen, T, Noushmehr, H, Scarpace, L, Girard, N, Aymerich, M, Campo, E, Giné, E, Guillermo, AL, Van Bang, N, Hanh, PT, Phu, BD, Tang, Y, Colman, H, Evason, K, Dottino, PR, Martignetti, JA, Gabra, H, Juhl, H, Akeredolu, T, Stepa, S, Hoon, D, Ahn, K, Kang, KJ, Beuschlein, F, Breggia, A, Birrer, M, Bell, D, Borad, M, Bryce, AH, Castle, E, Chandan, V, Cheville, J, Copland, JA, Farnell, M, Flotte, T, Giama, N, Ho, T, Kendrick, M, Kocher, J-P, Kopp, K, Moser, C, Nagorney, D, O’Brien, D, O’Neill, BP, Patel, T, Petersen, G, Que, F, Rivera, M, Roberts, L, Smallridge, R, Smyrk, T, Stanton, M, Thompson, RH, Torbenson, M, Yang, JD, Zhang, L, Brimo, F, Ajani, JA, Gonzalez, AMA, Behrens, C, Bondaruk, J, Broaddus, R, Czerniak, B, Esmaeli, B, Fujimoto, J, Gershenwald, J, Guo, C, Lazar, AJ, Logothetis, C, Meric-Bernstam, F, Moran, C, Ramondetta, L, Rice, D, Sood, A, Tamboli, P, Thompson, T, Troncoso, P, Tsao, A, Wistuba, I, Carter, C, Haydu, L, Hersey, P, Jakrot, V, Kakavand, H, Kefford, R, Lee, K, Long, G, Mann, G, Quinn, M, Saw, R, Scolyer, R, Shannon, K, Spillane, A, Stretch, J, Synott, M, Thompson, J, Wilmott, J, Al-Ahmadie, H, Chan, TA, Ghossein, R, Gopalan, A, Levine, DA, Reuter, V, Singer, S, Singh, B, and Tien, NV et al.. "lncRNA Epigenetic Landscape Analysis Identifies EPIC1 as an Oncogenic lncRNA that Interacts with MYC and Promotes Cell-Cycle Progression in Cancer." Cancer Cell 33.4 (April 2018): 706-720.e9.
Source
crossref
Published In
Cancer Cell
Volume
33
Issue
4
Publish Date
2018
Start Page
706
End Page
720.e9
DOI
10.1016/j.ccell.2018.03.006

A Pan-Cancer Analysis of Enhancer Expression in Nearly 9000 Patient Samples

Authors
Chen, H; Li, C; Peng, X; Zhou, Z; Weinstein, JN; Liang, H; Caesar-Johnson, SJ; Demchok, JA; Felau, I; Kasapi, M; Ferguson, ML; Hutter, CM; Sofia, HJ; Tarnuzzer, R; Wang, Z; Yang, L; Zenklusen, JC; Zhang, JJ; Chudamani, S; Liu, J; Lolla, L; Naresh, R; Pihl, T; Sun, Q; Wan, Y; Wu, Y; Cho, J; DeFreitas, T; Frazer, S; Gehlenborg, N; Getz, G; Heiman, DI; Kim, J; Lawrence, MS; Lin, P; Meier, S; Noble, MS; Saksena, G; Voet, D; Zhang, H; Bernard, B; Chambwe, N; Dhankani, V; Knijnenburg, T; Kramer, R; Leinonen, K; Liu, Y; Miller, M; Reynolds, S; Shmulevich, I; Thorsson, V; Zhang, W; Akbani, R; Broom, BM; Hegde, AM; Ju, Z; Kanchi, RS; Korkut, A; Li, J; Ling, S; Liu, W; Lu, Y; Mills, GB; Ng, K-S; Rao, A; Ryan, M; Wang, J; Zhang, J; Abeshouse, A; Armenia, J; Chakravarty, D; Chatila, WK; de Bruijn, I; Gao, J; Gross, BE; Heins, ZJ; Kundra, R; La, K; Ladanyi, M; Luna, A; Nissan, MG; Ochoa, A; Phillips, SM; Reznik, E; Sanchez-Vega, F; Sander, C; Schultz, N; Sheridan, R; Sumer, SO; Sun, Y; Taylor, BS; Wang, J; Zhang, H; Anur, P; Peto, M; Spellman, P; Benz, C; Stuart, JM; Wong, CK; Yau, C; Hayes, DN; Parker, JS; Wilkerson, MD; Ally, A; Balasundaram, M; Bowlby, R; Brooks, D; Carlsen, R; Chuah, E; Dhalla, N; Holt, R; Jones, SJM; Kasaian, K; Lee, D; Ma, Y; Marra, MA; Mayo, M; Moore, RA; Mungall, AJ; Mungall, K; Robertson, AG; Sadeghi, S; Schein, JE; Sipahimalani, P; Tam, A; Thiessen, N; Tse, K; Wong, T; Berger, AC; Beroukhim, R; Cherniack, AD; Cibulskis, C; Gabriel, SB; Gao, GF; Ha, G; Meyerson, M; Schumacher, SE; Shih, J; Kucherlapati, MH; Kucherlapati, RS; Baylin, S; Cope, L; Danilova, L; Bootwalla, MS; Lai, PH; Maglinte, DT; Van Den Berg, DJ; Weisenberger, DJ; Auman, JT; Balu, S; Bodenheimer, T; Fan, C; Hoadley, KA; Hoyle, AP; Jefferys, SR; Jones, CD; Meng, S; Mieczkowski, PA; Mose, LE; Perou, AH; Perou, CM; Roach, J; Shi, Y; Simons, JV; Skelly, T; Soloway, MG; Tan, D; Veluvolu, U; Fan, H; Hinoue, T; Laird, PW; Shen, H; Zhou, W; Bellair, M; Chang, K; Covington, K; Creighton, CJ; Dinh, H; Doddapaneni, H; Donehower, LA; Drummond, J; Gibbs, RA; Glenn, R; Hale, W; Han, Y; Hu, J; Korchina, V; Lee, S; Lewis, L; Li, W; Liu, X; Morgan, M; Morton, D; Muzny, D; Santibanez, J; Sheth, M; Shinbrot, E; Wang, L; Wang, M; Wheeler, DA; Xi, L; Zhao, F; Hess, J; Appelbaum, EL; Bailey, M; Cordes, MG; Ding, L; Fronick, CC; Fulton, LA; Fulton, RS; Kandoth, C; Mardis, ER; McLellan, MD; Miller, CA; Schmidt, HK; Wilson, RK; Crain, D; Curley, E; Gardner, J; Lau, K; Mallery, D; Morris, S; Paulauskis, J; Penny, R; Shelton, C; Shelton, T; Sherman, M; Thompson, E; Yena, P; Bowen, J; Gastier-Foster, JM; Gerken, M; Leraas, KM; Lichtenberg, TM; Ramirez, NC; Wise, L; Zmuda, E; Corcoran, N; Costello, T; Hovens, C; Carvalho, AL; de Carvalho, AC; Fregnani, JH; Longatto-Filho, A; Reis, RM; Scapulatempo-Neto, C; Silveira, HCS; Vidal, DO; Burnette, A; Eschbacher, J; Hermes, B; Noss, A; Singh, R; Anderson, ML; Castro, PD; Ittmann, M; Huntsman, D; Kohl, B; Le, X; Thorp, R; Andry, C; Duffy, ER; Lyadov, V; Paklina, O; Setdikova, G; Shabunin, A; Tavobilov, M; McPherson, C; Warnick, R; Berkowitz, R; Cramer, D; Feltmate, C; Horowitz, N; Kibel, A; Muto, M; Raut, CP; Malykh, A; Barnholtz-Sloan, JS; Barrett, W; Devine, K; Fulop, J; Ostrom, QT; Shimmel, K; Wolinsky, Y; Sloan, AE; De Rose, A; Giuliante, F; Goodman, M; Karlan, BY; Hagedorn, CH; Eckman, J; Harr, J; Myers, J; Tucker, K; Zach, LA; Deyarmin, B; Hu, H; Kvecher, L; Larson, C; Mural, RJ; Somiari, S; Vicha, A; Zelinka, T; Bennett, J; Iacocca, M; Rabeno, B; Swanson, P; Latour, M; Lacombe, L; Têtu, B; Bergeron, A; McGraw, M; Staugaitis, SM; Chabot, J; Hibshoosh, H; Sepulveda, A; Su, T; Wang, T; Potapova, O; Voronina, O; Desjardins, L; Mariani, O; Roman-Roman, S; Sastre, X; Stern, M-H; Cheng, F; Signoretti, S; Berchuck, A; Bigner, D; Lipp, E; Marks, J; McCall, S; McLendon, R; Secord, A; Sharp, A; Behera, M; Brat, DJ; Chen, A; Delman, K; Force, S; Khuri, F; Magliocca, K; Maithel, S; Olson, JJ; Owonikoko, T; Pickens, A; Ramalingam, S; Shin, DM; Sica, G; Van Meir, EG; Zhang, H; Eijckenboom, W; Gillis, A; Korpershoek, E; Looijenga, L; Oosterhuis, W; Stoop, H; van Kessel, KE; Zwarthoff, EC; Calatozzolo, C; Cuppini, L; Cuzzubbo, S; DiMeco, F; Finocchiaro, G; Mattei, L; Perin, A; Pollo, B; Chen, C; Houck, J; Lohavanichbutr, P; Hartmann, A; Stoehr, C; Stoehr, R; Taubert, H; Wach, S; Wullich, B; Kycler, W; Murawa, D; Wiznerowicz, M; Chung, K; Edenfield, WJ; Martin, J; Baudin, E; Bubley, G; Bueno, R; De Rienzo, A; Richards, WG; Kalkanis, S; Mikkelsen, T; Noushmehr, H; Scarpace, L; Girard, N; Aymerich, M; Campo, E; Giné, E; Guillermo, AL; Van Bang, N; Hanh, PT; Phu, BD; Tang, Y; Colman, H; Evason, K; Dottino, PR; Martignetti, JA; Gabra, H; Juhl, H; Akeredolu, T; Stepa, S; Hoon, D; Ahn, K; Kang, KJ; Beuschlein, F; Breggia, A; Birrer, M; Bell, D; Borad, M; Bryce, AH; Castle, E; Chandan, V; Cheville, J; Copland, JA; Farnell, M; Flotte, T; Giama, N; Ho, T; Kendrick, M; Kocher, J-P; Kopp, K; Moser, C; Nagorney, D; O’Brien, D; O’Neill, BP; Patel, T; Petersen, G; Que, F; Rivera, M; Roberts, L; Smallridge, R; Smyrk, T; Stanton, M; Thompson, RH; Torbenson, M; Yang, JD; Zhang, L; Brimo, F; Ajani, JA; Gonzalez, AMA; Behrens, C; Bondaruk, J; Broaddus, R; Czerniak, B; Esmaeli, B; Fujimoto, J; Gershenwald, J; Guo, C; Lazar, AJ; Logothetis, C; Meric-Bernstam, F; Moran, C; Ramondetta, L; Rice, D; Sood, A; Tamboli, P; Thompson, T; Troncoso, P; Tsao, A; Wistuba, I; Carter, C; Haydu, L; Hersey, P; Jakrot, V; Kakavand, H; Kefford, R; Lee, K; Long, G; Mann, G; Quinn, M; Saw, R; Scolyer, R; Shannon, K; Spillane, A; Stretch, J; Synott, M; Thompson, J; Wilmott, J; Al-Ahmadie, H; Chan, TA; Ghossein, R; Gopalan, A; Levine, DA; Reuter, V; Singer, S; Singh, B; Tien, NV; Broudy, T; Mirsaidi, C; Nair, P; Drwiega, P; Miller, J; Smith, J et al.
MLA Citation
Chen, H, Li, C, Peng, X, Zhou, Z, Weinstein, JN, Liang, H, Caesar-Johnson, SJ, Demchok, JA, Felau, I, Kasapi, M, Ferguson, ML, Hutter, CM, Sofia, HJ, Tarnuzzer, R, Wang, Z, Yang, L, Zenklusen, JC, Zhang, JJ, Chudamani, S, Liu, J, Lolla, L, Naresh, R, Pihl, T, Sun, Q, Wan, Y, Wu, Y, Cho, J, DeFreitas, T, Frazer, S, Gehlenborg, N, Getz, G, Heiman, DI, Kim, J, Lawrence, MS, Lin, P, Meier, S, Noble, MS, Saksena, G, Voet, D, Zhang, H, Bernard, B, Chambwe, N, Dhankani, V, Knijnenburg, T, Kramer, R, Leinonen, K, Liu, Y, Miller, M, Reynolds, S, Shmulevich, I, Thorsson, V, Zhang, W, Akbani, R, Broom, BM, Hegde, AM, Ju, Z, Kanchi, RS, Korkut, A, Li, J, Ling, S, Liu, W, Lu, Y, Mills, GB, Ng, K-S, Rao, A, Ryan, M, Wang, J, Zhang, J, Abeshouse, A, Armenia, J, Chakravarty, D, Chatila, WK, de Bruijn, I, Gao, J, Gross, BE, Heins, ZJ, Kundra, R, La, K, Ladanyi, M, Luna, A, Nissan, MG, Ochoa, A, Phillips, SM, Reznik, E, Sanchez-Vega, F, Sander, C, Schultz, N, Sheridan, R, Sumer, SO, Sun, Y, Taylor, BS, Wang, J, Zhang, H, Anur, P, Peto, M, Spellman, P, Benz, C, Stuart, JM, Wong, CK, Yau, C, Hayes, DN, Parker, JS, Wilkerson, MD, Ally, A, Balasundaram, M, Bowlby, R, Brooks, D, Carlsen, R, Chuah, E, Dhalla, N, Holt, R, Jones, SJM, Kasaian, K, Lee, D, Ma, Y, Marra, MA, Mayo, M, Moore, RA, Mungall, AJ, Mungall, K, Robertson, AG, Sadeghi, S, Schein, JE, Sipahimalani, P, Tam, A, Thiessen, N, Tse, K, Wong, T, Berger, AC, Beroukhim, R, Cherniack, AD, Cibulskis, C, Gabriel, SB, Gao, GF, Ha, G, Meyerson, M, Schumacher, SE, Shih, J, Kucherlapati, MH, Kucherlapati, RS, Baylin, S, Cope, L, Danilova, L, Bootwalla, MS, Lai, PH, Maglinte, DT, Van Den Berg, DJ, Weisenberger, DJ, Auman, JT, Balu, S, Bodenheimer, T, Fan, C, Hoadley, KA, Hoyle, AP, Jefferys, SR, Jones, CD, Meng, S, Mieczkowski, PA, Mose, LE, Perou, AH, Perou, CM, Roach, J, Shi, Y, Simons, JV, Skelly, T, Soloway, MG, Tan, D, Veluvolu, U, Fan, H, Hinoue, T, Laird, PW, Shen, H, Zhou, W, Bellair, M, Chang, K, Covington, K, Creighton, CJ, Dinh, H, Doddapaneni, H, Donehower, LA, Drummond, J, Gibbs, RA, Glenn, R, Hale, W, Han, Y, Hu, J, Korchina, V, Lee, S, Lewis, L, Li, W, Liu, X, Morgan, M, Morton, D, Muzny, D, Santibanez, J, Sheth, M, Shinbrot, E, Wang, L, Wang, M, Wheeler, DA, Xi, L, Zhao, F, Hess, J, Appelbaum, EL, Bailey, M, Cordes, MG, Ding, L, Fronick, CC, Fulton, LA, Fulton, RS, Kandoth, C, Mardis, ER, McLellan, MD, Miller, CA, Schmidt, HK, Wilson, RK, Crain, D, Curley, E, Gardner, J, Lau, K, Mallery, D, Morris, S, Paulauskis, J, Penny, R, Shelton, C, Shelton, T, Sherman, M, Thompson, E, Yena, P, Bowen, J, Gastier-Foster, JM, Gerken, M, Leraas, KM, Lichtenberg, TM, Ramirez, NC, Wise, L, Zmuda, E, Corcoran, N, Costello, T, Hovens, C, Carvalho, AL, de Carvalho, AC, Fregnani, JH, Longatto-Filho, A, Reis, RM, Scapulatempo-Neto, C, Silveira, HCS, Vidal, DO, Burnette, A, Eschbacher, J, Hermes, B, Noss, A, Singh, R, Anderson, ML, Castro, PD, Ittmann, M, Huntsman, D, Kohl, B, Le, X, Thorp, R, Andry, C, Duffy, ER, Lyadov, V, Paklina, O, Setdikova, G, Shabunin, A, Tavobilov, M, McPherson, C, Warnick, R, Berkowitz, R, Cramer, D, Feltmate, C, Horowitz, N, Kibel, A, Muto, M, Raut, CP, Malykh, A, Barnholtz-Sloan, JS, Barrett, W, Devine, K, Fulop, J, Ostrom, QT, Shimmel, K, Wolinsky, Y, Sloan, AE, De Rose, A, Giuliante, F, Goodman, M, Karlan, BY, Hagedorn, CH, Eckman, J, Harr, J, Myers, J, Tucker, K, Zach, LA, Deyarmin, B, Hu, H, Kvecher, L, Larson, C, Mural, RJ, Somiari, S, Vicha, A, Zelinka, T, Bennett, J, Iacocca, M, Rabeno, B, Swanson, P, Latour, M, Lacombe, L, Têtu, B, Bergeron, A, McGraw, M, Staugaitis, SM, Chabot, J, Hibshoosh, H, Sepulveda, A, Su, T, Wang, T, Potapova, O, Voronina, O, Desjardins, L, Mariani, O, Roman-Roman, S, Sastre, X, Stern, M-H, Cheng, F, Signoretti, S, Berchuck, A, Bigner, D, Lipp, E, Marks, J, McCall, S, McLendon, R, Secord, A, Sharp, A, Behera, M, Brat, DJ, Chen, A, Delman, K, Force, S, Khuri, F, Magliocca, K, Maithel, S, Olson, JJ, Owonikoko, T, Pickens, A, Ramalingam, S, Shin, DM, Sica, G, Van Meir, EG, Zhang, H, Eijckenboom, W, Gillis, A, Korpershoek, E, Looijenga, L, Oosterhuis, W, Stoop, H, van Kessel, KE, Zwarthoff, EC, Calatozzolo, C, Cuppini, L, Cuzzubbo, S, DiMeco, F, Finocchiaro, G, Mattei, L, Perin, A, Pollo, B, Chen, C, Houck, J, Lohavanichbutr, P, Hartmann, A, Stoehr, C, Stoehr, R, Taubert, H, Wach, S, Wullich, B, Kycler, W, Murawa, D, Wiznerowicz, M, Chung, K, Edenfield, WJ, Martin, J, Baudin, E, Bubley, G, Bueno, R, De Rienzo, A, Richards, WG, Kalkanis, S, Mikkelsen, T, Noushmehr, H, Scarpace, L, Girard, N, Aymerich, M, Campo, E, Giné, E, Guillermo, AL, Van Bang, N, Hanh, PT, Phu, BD, Tang, Y, Colman, H, Evason, K, Dottino, PR, Martignetti, JA, Gabra, H, Juhl, H, Akeredolu, T, Stepa, S, Hoon, D, Ahn, K, Kang, KJ, Beuschlein, F, Breggia, A, Birrer, M, Bell, D, Borad, M, Bryce, AH, Castle, E, Chandan, V, Cheville, J, Copland, JA, Farnell, M, Flotte, T, Giama, N, Ho, T, Kendrick, M, Kocher, J-P, Kopp, K, Moser, C, Nagorney, D, O’Brien, D, O’Neill, BP, Patel, T, Petersen, G, Que, F, Rivera, M, Roberts, L, Smallridge, R, Smyrk, T, Stanton, M, Thompson, RH, Torbenson, M, Yang, JD, Zhang, L, Brimo, F, Ajani, JA, Gonzalez, AMA, Behrens, C, Bondaruk, J, Broaddus, R, Czerniak, B, Esmaeli, B, Fujimoto, J, Gershenwald, J, Guo, C, Lazar, AJ, Logothetis, C, Meric-Bernstam, F, Moran, C, Ramondetta, L, Rice, D, Sood, A, Tamboli, P, Thompson, T, Troncoso, P, Tsao, A, Wistuba, I, Carter, C, Haydu, L, Hersey, P, Jakrot, V, Kakavand, H, Kefford, R, Lee, K, Long, G, Mann, G, Quinn, M, Saw, R, Scolyer, R, Shannon, K, Spillane, A, Stretch, J, Synott, M, Thompson, J, Wilmott, J, Al-Ahmadie, H, Chan, TA, Ghossein, R, Gopalan, A, Levine, DA, Reuter, V, Singer, S, Singh, B, Tien, NV, Broudy, T, Mirsaidi, C, Nair, P, Drwiega, P, Miller, J, and Smith, J et al.. "A Pan-Cancer Analysis of Enhancer Expression in Nearly 9000 Patient Samples." Cell 173.2 (April 2018): 386-399.e12.
Source
crossref
Published In
Cell
Volume
173
Issue
2
Publish Date
2018
Start Page
386
End Page
399.e12
DOI
10.1016/j.cell.2018.03.027

Machine Learning Identifies Stemness Features Associated with Oncogenic Dedifferentiation

Authors
Malta, TM; Sokolov, A; Gentles, AJ; Burzykowski, T; Poisson, L; Weinstein, JN; Kamińska, B; Huelsken, J; Omberg, L; Gevaert, O; Colaprico, A; Czerwińska, P; Mazurek, S; Mishra, L; Heyn, H; Krasnitz, A; Godwin, AK; Lazar, AJ; Stuart, JM; Hoadley, KA; Laird, PW; Noushmehr, H; Wiznerowicz, M; Caesar-Johnson, SJ; Demchok, JA; Felau, I; Kasapi, M; Ferguson, ML; Hutter, CM; Sofia, HJ; Tarnuzzer, R; Wang, Z; Yang, L; Zenklusen, JC; Zhang, JJ; Chudamani, S; Liu, J; Lolla, L; Naresh, R; Pihl, T; Sun, Q; Wan, Y; Wu, Y; Cho, J; DeFreitas, T; Frazer, S; Gehlenborg, N; Getz, G; Heiman, DI; Kim, J; Lawrence, MS; Lin, P; Meier, S; Noble, MS; Saksena, G; Voet, D; Zhang, H; Bernard, B; Chambwe, N; Dhankani, V; Knijnenburg, T; Kramer, R; Leinonen, K; Liu, Y; Miller, M; Reynolds, S; Shmulevich, I; Thorsson, V; Zhang, W; Akbani, R; Broom, BM; Hegde, AM; Ju, Z; Kanchi, RS; Korkut, A; Li, J; Liang, H; Ling, S; Liu, W; Lu, Y; Mills, GB; Ng, K-S; Rao, A; Ryan, M; Wang, J; Zhang, J; Abeshouse, A; Armenia, J; Chakravarty, D; Chatila, WK; de Bruijn, I; Gao, J; Gross, BE; Heins, ZJ; Kundra, R; La, K; Ladanyi, M; Luna, A; Nissan, MG; Ochoa, A; Phillips, SM; Reznik, E; Sanchez-Vega, F; Sander, C; Schultz, N; Sheridan, R; Sumer, SO; Sun, Y; Taylor, BS; Wang, J; Zhang, H; Anur, P; Peto, M; Spellman, P; Benz, C; Wong, CK; Yau, C; Hayes, DN; Parker, JS; Wilkerson, MD; Ally, A; Balasundaram, M; Bowlby, R; Brooks, D; Carlsen, R; Chuah, E; Dhalla, N; Holt, R; Jones, SJM; Kasaian, K; Lee, D; Ma, Y; Marra, MA; Mayo, M; Moore, RA; Mungall, AJ; Mungall, K; Robertson, AG; Sadeghi, S; Schein, JE; Sipahimalani, P; Tam, A; Thiessen, N; Tse, K; Wong, T; Berger, AC; Beroukhim, R; Cherniack, AD; Cibulskis, C; Gabriel, SB; Gao, GF; Ha, G; Meyerson, M; Schumacher, SE; Shih, J; Kucherlapati, MH; Kucherlapati, RS; Baylin, S; Cope, L; Danilova, L; Bootwalla, MS; Lai, PH; Maglinte, DT; Van Den Berg, DJ; Weisenberger, DJ; Auman, JT; Balu, S; Bodenheimer, T; Fan, C; Hoyle, AP; Jefferys, SR; Jones, CD; Meng, S; Mieczkowski, PA; Mose, LE; Perou, AH; Perou, CM; Roach, J; Shi, Y; Simons, JV; Skelly, T; Soloway, MG; Tan, D; Veluvolu, U; Fan, H; Hinoue, T; Shen, H; Zhou, W; Bellair, M; Chang, K; Covington, K; Creighton, CJ; Dinh, H; Doddapaneni, H; Donehower, LA; Drummond, J; Gibbs, RA; Glenn, R; Hale, W; Han, Y; Hu, J; Korchina, V; Lee, S; Lewis, L; Li, W; Liu, X; Morgan, M; Morton, D; Muzny, D; Santibanez, J; Sheth, M; Shinbrot, E; Wang, L; Wang, M; Wheeler, DA; Xi, L; Zhao, F; Hess, J; Appelbaum, EL; Bailey, M; Cordes, MG; Ding, L; Fronick, CC; Fulton, LA; Fulton, RS; Kandoth, C; Mardis, ER; McLellan, MD; Miller, CA; Schmidt, HK; Wilson, RK; Crain, D; Curley, E; Gardner, J; Lau, K; Mallery, D; Morris, S; Paulauskis, J; Penny, R; Shelton, C; Shelton, T; Sherman, M; Thompson, E; Yena, P; Bowen, J; Gastier-Foster, JM; Gerken, M; Leraas, KM; Lichtenberg, TM; Ramirez, NC; Wise, L; Zmuda, E; Corcoran, N; Costello, T; Hovens, C; Carvalho, AL; de Carvalho, AC; Fregnani, JH; Longatto-Filho, A; Reis, RM; Scapulatempo-Neto, C; Silveira, HCS; Vidal, DO; Burnette, A; Eschbacher, J; Hermes, B; Noss, A; Singh, R; Anderson, ML; Castro, PD; Ittmann, M; Huntsman, D; Kohl, B; Le, X; Thorp, R; Andry, C; Duffy, ER; Lyadov, V; Paklina, O; Setdikova, G; Shabunin, A; Tavobilov, M; McPherson, C; Warnick, R; Berkowitz, R; Cramer, D; Feltmate, C; Horowitz, N; Kibel, A; Muto, M; Raut, CP; Malykh, A; Barnholtz-Sloan, JS; Barrett, W; Devine, K; Fulop, J; Ostrom, QT; Shimmel, K; Wolinsky, Y; Sloan, AE; De Rose, A; Giuliante, F; Goodman, M; Karlan, BY; Hagedorn, CH; Eckman, J; Harr, J; Myers, J; Tucker, K; Zach, LA; Deyarmin, B; Hu, H; Kvecher, L; Larson, C; Mural, RJ; Somiari, S; Vicha, A; Zelinka, T; Bennett, J; Iacocca, M; Rabeno, B; Swanson, P; Latour, M; Lacombe, L; Têtu, B; Bergeron, A; McGraw, M; Staugaitis, SM; Chabot, J; Hibshoosh, H; Sepulveda, A; Su, T; Wang, T; Potapova, O; Voronina, O; Desjardins, L; Mariani, O; Roman-Roman, S; Sastre, X; Stern, M-H; Cheng, F; Signoretti, S; Berchuck, A; Bigner, D; Lipp, E; Marks, J; McCall, S; McLendon, R; Secord, A; Sharp, A; Behera, M; Brat, DJ; Chen, A; Delman, K; Force, S; Khuri, F; Magliocca, K; Maithel, S; Olson, JJ; Owonikoko, T; Pickens, A; Ramalingam, S; Shin, DM; Sica, G; Van Meir, EG; Zhang, H; Eijckenboom, W; Gillis, A; Korpershoek, E; Looijenga, L; Oosterhuis, W; Stoop, H; van Kessel, KE; Zwarthoff, EC; Calatozzolo, C; Cuppini, L; Cuzzubbo, S; DiMeco, F; Finocchiaro, G; Mattei, L; Perin, A; Pollo, B; Chen, C; Houck, J; Lohavanichbutr, P; Hartmann, A; Stoehr, C; Stoehr, R; Taubert, H; Wach, S; Wullich, B; Kycler, W; Murawa, D; Chung, K; Edenfield, WJ; Martin, J; Baudin, E; Bubley, G; Bueno, R; De Rienzo, A; Richards, WG; Kalkanis, S; Mikkelsen, T; Scarpace, L; Girard, N; Aymerich, M; Campo, E; Giné, E; Guillermo, AL; Van Bang, N; Hanh, PT; Phu, BD; Tang, Y; Colman, H; Evason, K; Dottino, PR; Martignetti, JA; Gabra, H; Juhl, H; Akeredolu, T; Stepa, S; Hoon, D; Ahn, K; Kang, KJ; Beuschlein, F; Breggia, A; Birrer, M; Bell, D; Borad, M; Bryce, AH; Castle, E; Chandan, V; Cheville, J; Copland, JA; Farnell, M; Flotte, T; Giama, N; Ho, T; Kendrick, M; Kocher, J-P; Kopp, K; Moser, C; Nagorney, D; O’Brien, D; O’Neill, BP; Patel, T; Petersen, G; Que, F; Rivera, M; Roberts, L; Smallridge, R; Smyrk, T; Stanton, M; Thompson, RH; Torbenson, M; Yang, JD; Zhang, L; Brimo, F; Ajani, JA; Gonzalez, AMA; Behrens, C; Bondaruk, J; Broaddus, R; Czerniak, B; Esmaeli, B; Fujimoto, J; Gershenwald, J; Guo, C; Logothetis, C; Meric-Bernstam, F; Moran, C; Ramondetta, L; Rice, D; Sood, A; Tamboli, P; Thompson, T; Troncoso, P; Tsao, A; Wistuba, I; Carter, C; Haydu, L; Hersey, P; Jakrot, V; Kakavand, H; Kefford, R; Lee, K; Long, G; Mann, G; Quinn, M; Saw, R; Scolyer, R; Shannon, K; Spillane, A; Stretch, J; Synott, M; Thompson, J; Wilmott, J; Al-Ahmadie, H; Chan, TA; Ghossein, R et al.
MLA Citation
Malta, TM, Sokolov, A, Gentles, AJ, Burzykowski, T, Poisson, L, Weinstein, JN, Kamińska, B, Huelsken, J, Omberg, L, Gevaert, O, Colaprico, A, Czerwińska, P, Mazurek, S, Mishra, L, Heyn, H, Krasnitz, A, Godwin, AK, Lazar, AJ, Stuart, JM, Hoadley, KA, Laird, PW, Noushmehr, H, Wiznerowicz, M, Caesar-Johnson, SJ, Demchok, JA, Felau, I, Kasapi, M, Ferguson, ML, Hutter, CM, Sofia, HJ, Tarnuzzer, R, Wang, Z, Yang, L, Zenklusen, JC, Zhang, JJ, Chudamani, S, Liu, J, Lolla, L, Naresh, R, Pihl, T, Sun, Q, Wan, Y, Wu, Y, Cho, J, DeFreitas, T, Frazer, S, Gehlenborg, N, Getz, G, Heiman, DI, Kim, J, Lawrence, MS, Lin, P, Meier, S, Noble, MS, Saksena, G, Voet, D, Zhang, H, Bernard, B, Chambwe, N, Dhankani, V, Knijnenburg, T, Kramer, R, Leinonen, K, Liu, Y, Miller, M, Reynolds, S, Shmulevich, I, Thorsson, V, Zhang, W, Akbani, R, Broom, BM, Hegde, AM, Ju, Z, Kanchi, RS, Korkut, A, Li, J, Liang, H, Ling, S, Liu, W, Lu, Y, Mills, GB, Ng, K-S, Rao, A, Ryan, M, Wang, J, Zhang, J, Abeshouse, A, Armenia, J, Chakravarty, D, Chatila, WK, de Bruijn, I, Gao, J, Gross, BE, Heins, ZJ, Kundra, R, La, K, Ladanyi, M, Luna, A, Nissan, MG, Ochoa, A, Phillips, SM, Reznik, E, Sanchez-Vega, F, Sander, C, Schultz, N, Sheridan, R, Sumer, SO, Sun, Y, Taylor, BS, Wang, J, Zhang, H, Anur, P, Peto, M, Spellman, P, Benz, C, Wong, CK, Yau, C, Hayes, DN, Parker, JS, Wilkerson, MD, Ally, A, Balasundaram, M, Bowlby, R, Brooks, D, Carlsen, R, Chuah, E, Dhalla, N, Holt, R, Jones, SJM, Kasaian, K, Lee, D, Ma, Y, Marra, MA, Mayo, M, Moore, RA, Mungall, AJ, Mungall, K, Robertson, AG, Sadeghi, S, Schein, JE, Sipahimalani, P, Tam, A, Thiessen, N, Tse, K, Wong, T, Berger, AC, Beroukhim, R, Cherniack, AD, Cibulskis, C, Gabriel, SB, Gao, GF, Ha, G, Meyerson, M, Schumacher, SE, Shih, J, Kucherlapati, MH, Kucherlapati, RS, Baylin, S, Cope, L, Danilova, L, Bootwalla, MS, Lai, PH, Maglinte, DT, Van Den Berg, DJ, Weisenberger, DJ, Auman, JT, Balu, S, Bodenheimer, T, Fan, C, Hoyle, AP, Jefferys, SR, Jones, CD, Meng, S, Mieczkowski, PA, Mose, LE, Perou, AH, Perou, CM, Roach, J, Shi, Y, Simons, JV, Skelly, T, Soloway, MG, Tan, D, Veluvolu, U, Fan, H, Hinoue, T, Shen, H, Zhou, W, Bellair, M, Chang, K, Covington, K, Creighton, CJ, Dinh, H, Doddapaneni, H, Donehower, LA, Drummond, J, Gibbs, RA, Glenn, R, Hale, W, Han, Y, Hu, J, Korchina, V, Lee, S, Lewis, L, Li, W, Liu, X, Morgan, M, Morton, D, Muzny, D, Santibanez, J, Sheth, M, Shinbrot, E, Wang, L, Wang, M, Wheeler, DA, Xi, L, Zhao, F, Hess, J, Appelbaum, EL, Bailey, M, Cordes, MG, Ding, L, Fronick, CC, Fulton, LA, Fulton, RS, Kandoth, C, Mardis, ER, McLellan, MD, Miller, CA, Schmidt, HK, Wilson, RK, Crain, D, Curley, E, Gardner, J, Lau, K, Mallery, D, Morris, S, Paulauskis, J, Penny, R, Shelton, C, Shelton, T, Sherman, M, Thompson, E, Yena, P, Bowen, J, Gastier-Foster, JM, Gerken, M, Leraas, KM, Lichtenberg, TM, Ramirez, NC, Wise, L, Zmuda, E, Corcoran, N, Costello, T, Hovens, C, Carvalho, AL, de Carvalho, AC, Fregnani, JH, Longatto-Filho, A, Reis, RM, Scapulatempo-Neto, C, Silveira, HCS, Vidal, DO, Burnette, A, Eschbacher, J, Hermes, B, Noss, A, Singh, R, Anderson, ML, Castro, PD, Ittmann, M, Huntsman, D, Kohl, B, Le, X, Thorp, R, Andry, C, Duffy, ER, Lyadov, V, Paklina, O, Setdikova, G, Shabunin, A, Tavobilov, M, McPherson, C, Warnick, R, Berkowitz, R, Cramer, D, Feltmate, C, Horowitz, N, Kibel, A, Muto, M, Raut, CP, Malykh, A, Barnholtz-Sloan, JS, Barrett, W, Devine, K, Fulop, J, Ostrom, QT, Shimmel, K, Wolinsky, Y, Sloan, AE, De Rose, A, Giuliante, F, Goodman, M, Karlan, BY, Hagedorn, CH, Eckman, J, Harr, J, Myers, J, Tucker, K, Zach, LA, Deyarmin, B, Hu, H, Kvecher, L, Larson, C, Mural, RJ, Somiari, S, Vicha, A, Zelinka, T, Bennett, J, Iacocca, M, Rabeno, B, Swanson, P, Latour, M, Lacombe, L, Têtu, B, Bergeron, A, McGraw, M, Staugaitis, SM, Chabot, J, Hibshoosh, H, Sepulveda, A, Su, T, Wang, T, Potapova, O, Voronina, O, Desjardins, L, Mariani, O, Roman-Roman, S, Sastre, X, Stern, M-H, Cheng, F, Signoretti, S, Berchuck, A, Bigner, D, Lipp, E, Marks, J, McCall, S, McLendon, R, Secord, A, Sharp, A, Behera, M, Brat, DJ, Chen, A, Delman, K, Force, S, Khuri, F, Magliocca, K, Maithel, S, Olson, JJ, Owonikoko, T, Pickens, A, Ramalingam, S, Shin, DM, Sica, G, Van Meir, EG, Zhang, H, Eijckenboom, W, Gillis, A, Korpershoek, E, Looijenga, L, Oosterhuis, W, Stoop, H, van Kessel, KE, Zwarthoff, EC, Calatozzolo, C, Cuppini, L, Cuzzubbo, S, DiMeco, F, Finocchiaro, G, Mattei, L, Perin, A, Pollo, B, Chen, C, Houck, J, Lohavanichbutr, P, Hartmann, A, Stoehr, C, Stoehr, R, Taubert, H, Wach, S, Wullich, B, Kycler, W, Murawa, D, Chung, K, Edenfield, WJ, Martin, J, Baudin, E, Bubley, G, Bueno, R, De Rienzo, A, Richards, WG, Kalkanis, S, Mikkelsen, T, Scarpace, L, Girard, N, Aymerich, M, Campo, E, Giné, E, Guillermo, AL, Van Bang, N, Hanh, PT, Phu, BD, Tang, Y, Colman, H, Evason, K, Dottino, PR, Martignetti, JA, Gabra, H, Juhl, H, Akeredolu, T, Stepa, S, Hoon, D, Ahn, K, Kang, KJ, Beuschlein, F, Breggia, A, Birrer, M, Bell, D, Borad, M, Bryce, AH, Castle, E, Chandan, V, Cheville, J, Copland, JA, Farnell, M, Flotte, T, Giama, N, Ho, T, Kendrick, M, Kocher, J-P, Kopp, K, Moser, C, Nagorney, D, O’Brien, D, O’Neill, BP, Patel, T, Petersen, G, Que, F, Rivera, M, Roberts, L, Smallridge, R, Smyrk, T, Stanton, M, Thompson, RH, Torbenson, M, Yang, JD, Zhang, L, Brimo, F, Ajani, JA, Gonzalez, AMA, Behrens, C, Bondaruk, J, Broaddus, R, Czerniak, B, Esmaeli, B, Fujimoto, J, Gershenwald, J, Guo, C, Logothetis, C, Meric-Bernstam, F, Moran, C, Ramondetta, L, Rice, D, Sood, A, Tamboli, P, Thompson, T, Troncoso, P, Tsao, A, Wistuba, I, Carter, C, Haydu, L, Hersey, P, Jakrot, V, Kakavand, H, Kefford, R, Lee, K, Long, G, Mann, G, Quinn, M, Saw, R, Scolyer, R, Shannon, K, Spillane, A, Stretch, J, Synott, M, Thompson, J, Wilmott, J, Al-Ahmadie, H, Chan, TA, and Ghossein, R et al.. "Machine Learning Identifies Stemness Features Associated with Oncogenic Dedifferentiation." Cell 173.2 (April 2018): 338-354.e15.
Source
crossref
Published In
Cell
Volume
173
Issue
2
Publish Date
2018
Start Page
338
End Page
354.e15
DOI
10.1016/j.cell.2018.03.034

Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types

Authors
Seiler, M; Peng, S; Agrawal, AA; Palacino, J; Teng, T; Zhu, P; Smith, PG; Buonamici, S; Yu, L; Caesar-Johnson, SJ; Demchok, JA; Felau, I; Kasapi, M; Ferguson, ML; Hutter, CM; Sofia, HJ; Tarnuzzer, R; Wang, Z; Yang, L; Zenklusen, JC; Zhang, JJ; Chudamani, S; Liu, J; Lolla, L; Naresh, R; Pihl, T; Sun, Q; Wan, Y; Wu, Y; Cho, J; DeFreitas, T; Frazer, S; Gehlenborg, N; Getz, G; Heiman, DI; Kim, J; Lawrence, MS; Lin, P; Meier, S; Noble, MS; Saksena, G; Voet, D; Zhang, H; Bernard, B; Chambwe, N; Dhankani, V; Knijnenburg, T; Kramer, R; Leinonen, K; Liu, Y; Miller, M; Reynolds, S; Shmulevich, I; Thorsson, V; Zhang, W; Akbani, R; Broom, BM; Hegde, AM; Ju, Z; Kanchi, RS; Korkut, A; Li, J; Liang, H; Ling, S; Liu, W; Lu, Y; Mills, GB; Ng, K-S; Rao, A; Ryan, M; Wang, J; Weinstein, JN; Zhang, J; Abeshouse, A; Armenia, J; Chakravarty, D; Chatila, WK; de Bruijn, I; Gao, J; Gross, BE; Heins, ZJ; Kundra, R; La, K; Ladanyi, M; Luna, A; Nissan, MG; Ochoa, A; Phillips, SM; Reznik, E; Sanchez-Vega, F; Sander, C; Schultz, N; Sheridan, R; Sumer, SO; Sun, Y; Taylor, BS; Wang, J; Zhang, H; Anur, P; Peto, M; Spellman, P; Benz, C; Stuart, JM; Wong, CK; Yau, C; Hayes, DN; Parker, JS; Wilkerson, MD; Ally, A; Balasundaram, M; Bowlby, R; Brooks, D; Carlsen, R; Chuah, E; Dhalla, N; Holt, R; Jones, SJM; Kasaian, K; Lee, D; Ma, Y; Marra, MA; Mayo, M; Moore, RA; Mungall, AJ; Mungall, K; Robertson, AG; Sadeghi, S; Schein, JE; Sipahimalani, P; Tam, A; Thiessen, N; Tse, K; Wong, T; Berger, AC; Beroukhim, R; Cherniack, AD; Cibulskis, C; Gabriel, SB; Gao, GF; Ha, G; Meyerson, M; Schumacher, SE; Shih, J; Kucherlapati, MH; Kucherlapati, RS; Baylin, S; Cope, L; Danilova, L; Bootwalla, MS; Lai, PH; Maglinte, DT; Van Den Berg, DJ; Weisenberger, DJ; Auman, JT; Balu, S; Bodenheimer, T; Fan, C; Hoadley, KA; Hoyle, AP; Jefferys, SR; Jones, CD; Meng, S; Mieczkowski, PA; Mose, LE; Perou, AH; Perou, CM; Roach, J; Shi, Y; Simons, JV; Skelly, T; Soloway, MG; Tan, D; Veluvolu, U; Fan, H; Hinoue, T; Laird, PW; Shen, H; Zhou, W; Bellair, M; Chang, K; Covington, K; Creighton, CJ; Dinh, H; Doddapaneni, H; Donehower, LA; Drummond, J; Gibbs, RA; Glenn, R; Hale, W; Han, Y; Hu, J; Korchina, V; Lee, S; Lewis, L; Li, W; Liu, X; Morgan, M; Morton, D; Muzny, D; Santibanez, J; Sheth, M; Shinbrot, E; Wang, L; Wang, M; Wheeler, DA; Xi, L; Zhao, F; Hess, J; Appelbaum, EL; Bailey, M; Cordes, MG; Ding, L; Fronick, CC; Fulton, LA; Fulton, RS; Kandoth, C; Mardis, ER; McLellan, MD; Miller, CA; Schmidt, HK; Wilson, RK; Crain, D; Curley, E; Gardner, J; Lau, K; Mallery, D; Morris, S; Paulauskis, J; Penny, R; Shelton, C; Shelton, T; Sherman, M; Thompson, E; Yena, P; Bowen, J; Gastier-Foster, JM; Gerken, M; Leraas, KM; Lichtenberg, TM; Ramirez, NC; Wise, L; Zmuda, E; Corcoran, N; Costello, T; Hovens, C; Carvalho, AL; de Carvalho, AC; Fregnani, JH; Longatto-Filho, A; Reis, RM; Scapulatempo-Neto, C; Silveira, HCS; Vidal, DO; Burnette, A; Eschbacher, J; Hermes, B; Noss, A; Singh, R; Anderson, ML; Castro, PD; Ittmann, M; Huntsman, D; Kohl, B; Le, X; Thorp, R; Andry, C; Duffy, ER; Lyadov, V; Paklina, O; Setdikova, G; Shabunin, A; Tavobilov, M; McPherson, C; Warnick, R; Berkowitz, R; Cramer, D; Feltmate, C; Horowitz, N; Kibel, A; Muto, M; Raut, CP; Malykh, A; Barnholtz-Sloan, JS; Barrett, W; Devine, K; Fulop, J; Ostrom, QT; Shimmel, K; Wolinsky, Y; Sloan, AE; De Rose, A; Giuliante, F; Goodman, M; Karlan, BY; Hagedorn, CH; Eckman, J; Harr, J; Myers, J; Tucker, K; Zach, LA; Deyarmin, B; Hu, H; Kvecher, L; Larson, C; Mural, RJ; Somiari, S; Vicha, A; Zelinka, T; Bennett, J; Iacocca, M; Rabeno, B; Swanson, P; Latour, M; Lacombe, L; Têtu, B; Bergeron, A; McGraw, M; Staugaitis, SM; Chabot, J; Hibshoosh, H; Sepulveda, A; Su, T; Wang, T; Potapova, O; Voronina, O; Desjardins, L; Mariani, O; Roman-Roman, S; Sastre, X; Stern, M-H; Cheng, F; Signoretti, S; Berchuck, A; Bigner, D; Lipp, E; Marks, J; McCall, S; McLendon, R; Secord, A; Sharp, A; Behera, M; Brat, DJ; Chen, A; Delman, K; Force, S; Khuri, F; Magliocca, K; Maithel, S; Olson, JJ; Owonikoko, T; Pickens, A; Ramalingam, S; Shin, DM; Sica, G; Van Meir, EG; Zhang, H; Eijckenboom, W; Gillis, A; Korpershoek, E; Looijenga, L; Oosterhuis, W; Stoop, H; van Kessel, KE; Zwarthoff, EC; Calatozzolo, C; Cuppini, L; Cuzzubbo, S; DiMeco, F; Finocchiaro, G; Mattei, L; Perin, A; Pollo, B; Chen, C; Houck, J; Lohavanichbutr, P; Hartmann, A; Stoehr, C; Stoehr, R; Taubert, H; Wach, S; Wullich, B; Kycler, W; Murawa, D; Wiznerowicz, M; Chung, K; Edenfield, WJ; Martin, J; Baudin, E; Bubley, G; Bueno, R; De Rienzo, A; Richards, WG; Kalkanis, S; Mikkelsen, T; Noushmehr, H; Scarpace, L; Girard, N; Aymerich, M; Campo, E; Giné, E; Guillermo, AL; Van Bang, N; Hanh, PT; Phu, BD; Tang, Y; Colman, H; Evason, K; Dottino, PR; Martignetti, JA; Gabra, H; Juhl, H; Akeredolu, T; Stepa, S; Hoon, D; Ahn, K; Kang, KJ; Beuschlein, F; Breggia, A; Birrer, M; Bell, D; Borad, M; Bryce, AH; Castle, E; Chandan, V; Cheville, J; Copland, JA; Farnell, M; Flotte, T; Giama, N; Ho, T; Kendrick, M; Kocher, J-P; Kopp, K; Moser, C; Nagorney, D; O’Brien, D; O’Neill, BP; Patel, T; Petersen, G; Que, F; Rivera, M; Roberts, L; Smallridge, R; Smyrk, T; Stanton, M; Thompson, RH; Torbenson, M; Yang, JD; Zhang, L; Brimo, F; Ajani, JA; Angulo Gonzalez, AM; Behrens, C; Bondaruk, J; Broaddus, R; Czerniak, B; Esmaeli, B; Fujimoto, J; Gershenwald, J; Guo, C; Lazar, AJ; Logothetis, C; Meric-Bernstam, F; Moran, C; Ramondetta, L; Rice, D; Sood, A; Tamboli, P; Thompson, T; Troncoso, P; Tsao, A; Wistuba, I; Carter, C; Haydu, L; Hersey, P; Jakrot, V; Kakavand, H; Kefford, R; Lee, K; Long, G; Mann, G; Quinn, M; Saw, R; Scolyer, R; Shannon, K; Spillane, A; Stretch, J; Synott, M; Thompson, J; Wilmott, J; Al-Ahmadie, H; Chan, TA; Ghossein, R; Gopalan, A; Levine, DA; Reuter, V; Singer, S; Singh, B; Tien, NV; Broudy, T et al.
MLA Citation
Seiler, M, Peng, S, Agrawal, AA, Palacino, J, Teng, T, Zhu, P, Smith, PG, Buonamici, S, Yu, L, Caesar-Johnson, SJ, Demchok, JA, Felau, I, Kasapi, M, Ferguson, ML, Hutter, CM, Sofia, HJ, Tarnuzzer, R, Wang, Z, Yang, L, Zenklusen, JC, Zhang, JJ, Chudamani, S, Liu, J, Lolla, L, Naresh, R, Pihl, T, Sun, Q, Wan, Y, Wu, Y, Cho, J, DeFreitas, T, Frazer, S, Gehlenborg, N, Getz, G, Heiman, DI, Kim, J, Lawrence, MS, Lin, P, Meier, S, Noble, MS, Saksena, G, Voet, D, Zhang, H, Bernard, B, Chambwe, N, Dhankani, V, Knijnenburg, T, Kramer, R, Leinonen, K, Liu, Y, Miller, M, Reynolds, S, Shmulevich, I, Thorsson, V, Zhang, W, Akbani, R, Broom, BM, Hegde, AM, Ju, Z, Kanchi, RS, Korkut, A, Li, J, Liang, H, Ling, S, Liu, W, Lu, Y, Mills, GB, Ng, K-S, Rao, A, Ryan, M, Wang, J, Weinstein, JN, Zhang, J, Abeshouse, A, Armenia, J, Chakravarty, D, Chatila, WK, de Bruijn, I, Gao, J, Gross, BE, Heins, ZJ, Kundra, R, La, K, Ladanyi, M, Luna, A, Nissan, MG, Ochoa, A, Phillips, SM, Reznik, E, Sanchez-Vega, F, Sander, C, Schultz, N, Sheridan, R, Sumer, SO, Sun, Y, Taylor, BS, Wang, J, Zhang, H, Anur, P, Peto, M, Spellman, P, Benz, C, Stuart, JM, Wong, CK, Yau, C, Hayes, DN, Parker, JS, Wilkerson, MD, Ally, A, Balasundaram, M, Bowlby, R, Brooks, D, Carlsen, R, Chuah, E, Dhalla, N, Holt, R, Jones, SJM, Kasaian, K, Lee, D, Ma, Y, Marra, MA, Mayo, M, Moore, RA, Mungall, AJ, Mungall, K, Robertson, AG, Sadeghi, S, Schein, JE, Sipahimalani, P, Tam, A, Thiessen, N, Tse, K, Wong, T, Berger, AC, Beroukhim, R, Cherniack, AD, Cibulskis, C, Gabriel, SB, Gao, GF, Ha, G, Meyerson, M, Schumacher, SE, Shih, J, Kucherlapati, MH, Kucherlapati, RS, Baylin, S, Cope, L, Danilova, L, Bootwalla, MS, Lai, PH, Maglinte, DT, Van Den Berg, DJ, Weisenberger, DJ, Auman, JT, Balu, S, Bodenheimer, T, Fan, C, Hoadley, KA, Hoyle, AP, Jefferys, SR, Jones, CD, Meng, S, Mieczkowski, PA, Mose, LE, Perou, AH, Perou, CM, Roach, J, Shi, Y, Simons, JV, Skelly, T, Soloway, MG, Tan, D, Veluvolu, U, Fan, H, Hinoue, T, Laird, PW, Shen, H, Zhou, W, Bellair, M, Chang, K, Covington, K, Creighton, CJ, Dinh, H, Doddapaneni, H, Donehower, LA, Drummond, J, Gibbs, RA, Glenn, R, Hale, W, Han, Y, Hu, J, Korchina, V, Lee, S, Lewis, L, Li, W, Liu, X, Morgan, M, Morton, D, Muzny, D, Santibanez, J, Sheth, M, Shinbrot, E, Wang, L, Wang, M, Wheeler, DA, Xi, L, Zhao, F, Hess, J, Appelbaum, EL, Bailey, M, Cordes, MG, Ding, L, Fronick, CC, Fulton, LA, Fulton, RS, Kandoth, C, Mardis, ER, McLellan, MD, Miller, CA, Schmidt, HK, Wilson, RK, Crain, D, Curley, E, Gardner, J, Lau, K, Mallery, D, Morris, S, Paulauskis, J, Penny, R, Shelton, C, Shelton, T, Sherman, M, Thompson, E, Yena, P, Bowen, J, Gastier-Foster, JM, Gerken, M, Leraas, KM, Lichtenberg, TM, Ramirez, NC, Wise, L, Zmuda, E, Corcoran, N, Costello, T, Hovens, C, Carvalho, AL, de Carvalho, AC, Fregnani, JH, Longatto-Filho, A, Reis, RM, Scapulatempo-Neto, C, Silveira, HCS, Vidal, DO, Burnette, A, Eschbacher, J, Hermes, B, Noss, A, Singh, R, Anderson, ML, Castro, PD, Ittmann, M, Huntsman, D, Kohl, B, Le, X, Thorp, R, Andry, C, Duffy, ER, Lyadov, V, Paklina, O, Setdikova, G, Shabunin, A, Tavobilov, M, McPherson, C, Warnick, R, Berkowitz, R, Cramer, D, Feltmate, C, Horowitz, N, Kibel, A, Muto, M, Raut, CP, Malykh, A, Barnholtz-Sloan, JS, Barrett, W, Devine, K, Fulop, J, Ostrom, QT, Shimmel, K, Wolinsky, Y, Sloan, AE, De Rose, A, Giuliante, F, Goodman, M, Karlan, BY, Hagedorn, CH, Eckman, J, Harr, J, Myers, J, Tucker, K, Zach, LA, Deyarmin, B, Hu, H, Kvecher, L, Larson, C, Mural, RJ, Somiari, S, Vicha, A, Zelinka, T, Bennett, J, Iacocca, M, Rabeno, B, Swanson, P, Latour, M, Lacombe, L, Têtu, B, Bergeron, A, McGraw, M, Staugaitis, SM, Chabot, J, Hibshoosh, H, Sepulveda, A, Su, T, Wang, T, Potapova, O, Voronina, O, Desjardins, L, Mariani, O, Roman-Roman, S, Sastre, X, Stern, M-H, Cheng, F, Signoretti, S, Berchuck, A, Bigner, D, Lipp, E, Marks, J, McCall, S, McLendon, R, Secord, A, Sharp, A, Behera, M, Brat, DJ, Chen, A, Delman, K, Force, S, Khuri, F, Magliocca, K, Maithel, S, Olson, JJ, Owonikoko, T, Pickens, A, Ramalingam, S, Shin, DM, Sica, G, Van Meir, EG, Zhang, H, Eijckenboom, W, Gillis, A, Korpershoek, E, Looijenga, L, Oosterhuis, W, Stoop, H, van Kessel, KE, Zwarthoff, EC, Calatozzolo, C, Cuppini, L, Cuzzubbo, S, DiMeco, F, Finocchiaro, G, Mattei, L, Perin, A, Pollo, B, Chen, C, Houck, J, Lohavanichbutr, P, Hartmann, A, Stoehr, C, Stoehr, R, Taubert, H, Wach, S, Wullich, B, Kycler, W, Murawa, D, Wiznerowicz, M, Chung, K, Edenfield, WJ, Martin, J, Baudin, E, Bubley, G, Bueno, R, De Rienzo, A, Richards, WG, Kalkanis, S, Mikkelsen, T, Noushmehr, H, Scarpace, L, Girard, N, Aymerich, M, Campo, E, Giné, E, Guillermo, AL, Van Bang, N, Hanh, PT, Phu, BD, Tang, Y, Colman, H, Evason, K, Dottino, PR, Martignetti, JA, Gabra, H, Juhl, H, Akeredolu, T, Stepa, S, Hoon, D, Ahn, K, Kang, KJ, Beuschlein, F, Breggia, A, Birrer, M, Bell, D, Borad, M, Bryce, AH, Castle, E, Chandan, V, Cheville, J, Copland, JA, Farnell, M, Flotte, T, Giama, N, Ho, T, Kendrick, M, Kocher, J-P, Kopp, K, Moser, C, Nagorney, D, O’Brien, D, O’Neill, BP, Patel, T, Petersen, G, Que, F, Rivera, M, Roberts, L, Smallridge, R, Smyrk, T, Stanton, M, Thompson, RH, Torbenson, M, Yang, JD, Zhang, L, Brimo, F, Ajani, JA, Angulo Gonzalez, AM, Behrens, C, Bondaruk, J, Broaddus, R, Czerniak, B, Esmaeli, B, Fujimoto, J, Gershenwald, J, Guo, C, Lazar, AJ, Logothetis, C, Meric-Bernstam, F, Moran, C, Ramondetta, L, Rice, D, Sood, A, Tamboli, P, Thompson, T, Troncoso, P, Tsao, A, Wistuba, I, Carter, C, Haydu, L, Hersey, P, Jakrot, V, Kakavand, H, Kefford, R, Lee, K, Long, G, Mann, G, Quinn, M, Saw, R, Scolyer, R, Shannon, K, Spillane, A, Stretch, J, Synott, M, Thompson, J, Wilmott, J, Al-Ahmadie, H, Chan, TA, Ghossein, R, Gopalan, A, Levine, DA, Reuter, V, Singer, S, Singh, B, Tien, NV, and Broudy, T et al.. "Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types." Cell Reports 23.1 (April 2018): 282-296.e4.
Source
crossref
Published In
Cell Reports
Volume
23
Issue
1
Publish Date
2018
Start Page
282
End Page
296.e4
DOI
10.1016/j.celrep.2018.01.088

Pan-cancer Alterations of the MYC Oncogene and Its Proximal Network across the Cancer Genome Atlas.

Although the MYC oncogene has been implicated in cancer, a systematic assessment of alterations of MYC, related transcription factors, and co-regulatory proteins, forming the proximal MYC network (PMN), across human cancers is lacking. Using computational approaches, we define genomic and proteomic features associated with MYC and the PMN across the 33 cancers of The Cancer Genome Atlas. Pan-cancer, 28% of all samples had at least one of the MYC paralogs amplified. In contrast, the MYC antagonists MGA and MNT were the most frequently mutated or deleted members, proposing a role as tumor suppressors. MYC alterations were mutually exclusive with PIK3CA, PTEN, APC, or BRAF alterations, suggesting that MYC is a distinct oncogenic driver. Expression analysis revealed MYC-associated pathways in tumor subtypes, such as immune response and growth factor signaling; chromatin, translation, and DNA replication/repair were conserved pan-cancer. This analysis reveals insights into MYC biology and is a reference for biomarkers and therapeutics for cancers with alterations of MYC or the PMN.

Authors
Schaub, FX; Dhankani, V; Berger, AC; Trivedi, M; Richardson, AB; Shaw, R; Zhao, W; Zhang, X; Ventura, A; Liu, Y; Ayer, DE; Hurlin, PJ; Cherniack, AD; Eisenman, RN; Bernard, B; Grandori, C; Cancer Genome Atlas Network,
MLA Citation
Schaub, FX, Dhankani, V, Berger, AC, Trivedi, M, Richardson, AB, Shaw, R, Zhao, W, Zhang, X, Ventura, A, Liu, Y, Ayer, DE, Hurlin, PJ, Cherniack, AD, Eisenman, RN, Bernard, B, Grandori, C, and Cancer Genome Atlas Network, . "Pan-cancer Alterations of the MYC Oncogene and Its Proximal Network across the Cancer Genome Atlas." Cell Systems 6.3 (March 2018): 282-300.e2.
PMID
29596783
Source
epmc
Published In
Cell Systems
Volume
6
Issue
3
Publish Date
2018
Start Page
282
End Page
300.e2
DOI
10.1016/j.cels.2018.03.003

Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines

Authors
Ellrott, K; Bailey, MH; Saksena, G; Covington, KR; Kandoth, C; Stewart, C; Hess, J; Ma, S; Chiotti, KE; McLellan, M; Sofia, HJ; Hutter, C; Getz, G; Wheeler, D; Ding, L; Caesar-Johnson, SJ; Demchok, JA; Felau, I; Kasapi, M; Ferguson, ML; Hutter, CM; Tarnuzzer, R; Wang, Z; Yang, L; Zenklusen, JC; Zhang, JJ; Chudamani, S; Liu, J; Lolla, L; Naresh, R; Pihl, T; Sun, Q; Wan, Y; Wu, Y; Cho, J; DeFreitas, T; Frazer, S; Gehlenborg, N; Heiman, DI; Kim, J; Lawrence, MS; Lin, P; Meier, S; Noble, MS; Voet, D; Zhang, H; Bernard, B; Chambwe, N; Dhankani, V; Knijnenburg, T; Kramer, R; Leinonen, K; Liu, Y; Miller, M; Reynolds, S; Shmulevich, I; Thorsson, V; Zhang, W; Akbani, R; Broom, BM; Hegde, AM; Ju, Z; Kanchi, RS; Korkut, A; Li, J; Liang, H; Ling, S; Liu, W; Lu, Y; Mills, GB; Ng, K-S; Rao, A; Ryan, M; Wang, J; Weinstein, JN; Zhang, J; Abeshouse, A; Armenia, J; Chakravarty, D; Chatila, WK; de Bruijn, I; Gao, J; Gross, BE; Heins, ZJ; Kundra, R; La, K; Ladanyi, M; Luna, A; Nissan, MG; Ochoa, A; Phillips, SM; Reznik, E; Sanchez-Vega, F; Sander, C; Schultz, N; Sheridan, R; Sumer, SO; Sun, Y; Taylor, BS; Wang, J; Zhang, H; Anur, P; Peto, M; Spellman, P; Benz, C; Stuart, JM; Wong, CK; Yau, C; Hayes, DN; Parker, ; Wilkerson, MD; Ally, A; Balasundaram, M; Bowlby, R; Brooks, D; Carlsen, R; Chuah, E; Dhalla, N; Holt, R; Jones, SJM; Kasaian, K; Lee, D; Ma, Y; Marra, MA; Mayo, M; Moore, RA; Mungall, AJ; Mungall, K; Robertson, AG; Sadeghi, S; Schein, JE; Sipahimalani, P; Tam, A; Thiessen, N; Tse, K; Wong, T; Berger, AC; Beroukhim, R; Cherniack, AD; Cibulskis, C; Gabriel, SB; Gao, GF; Ha, G; Meyerson, M; Schumacher, SE; Shih, J; Kucherlapati, MH; Kucherlapati, RS; Baylin, S; Cope, L; Danilova, L; Bootwalla, MS; Lai, PH; Maglinte, DT; Van Den Berg, DJ; Weisenberger, DJ; Auman, JT; Balu, S; Bodenheimer, T; Fan, C; Hoadley, KA; Hoyle, AP; Jefferys, SR; Jones, CD; Meng, S; Mieczkowski, PA; Mose, LE; Perou, AH; Perou, CM; Roach, J; Shi, Y; Simons, JV; Skelly, T; Soloway, MG; Tan, D; Veluvolu, U; Fan, H; Hinoue, T; Laird, PW; Shen, H; Zhou, W; Bellair, M; Chang, K; Covington, K; Creighton, CJ; Dinh, H; Doddapaneni, H; Donehower, LA; Drummond, J; Gibbs, RA; Glenn, R; Hale, W; Han, Y; Hu, J; Korchina, V; Lee, S; Lewis, L; Li, W; Liu, X; Morgan, M; Morton, D; Muzny, D; Santibanez, J; Sheth, M; Shinbrot, E; Wang, L; Wang, M; Wheeler, DA; Xi, L; Zhao, F; Appelbaum, EL; Bailey, M; Cordes, MG; Fronick, CC; Fulton, LA; Fulton, RS; Mardis, ER; McLellan, MD; Miller, CA; Schmidt, HK; Wilson, RK; Crain, D; Curley, E; Gardner, J; Lau, K; Mallery, D; Morris, S; Paulauskis, J; Penny, R; Shelton, C; Shelton, T; Sherman, M; Thompson, E; Yena, P; Bowen, J; Gastier-Foster, JM; Gerken, M; Leraas, KM; Lichtenberg, TM; Ramirez, NC; Wise, L; Zmuda, E; Corcoran, N; Costello, T; Hovens, C; Carvalho, AL; de Carvalho, AC; Fregnani, JH; Longatto-Filho, A; Reis, RM; Scapulatempo-Neto, C; Silveira, HCS; Vidal, DO; Burnette, A; Eschbacher, J; Hermes, B; Noss, A; Singh, R; Anderson, ML; Castro, PD; Ittmann, M; Huntsman, D; Kohl, B; Le, X; Thorp, R; Andry, C; Duffy, ER; Lyadov, V; Paklina, O; Setdikova, G; Shabunin, A; Tavobilov, M; McPherson, C; Warnick, R; Berkowitz, R; Cramer, D; Feltmate, C; Horowitz, N; Kibel, A; Muto, M; Raut, CP; Malykh, A; Barnholtz-Sloan, JS; Barrett, W; Devine, K; Fulop, J; Ostrom, QT; Shimmel, K; Wolinsky, Y; Sloan, AE; De Rose, A; Giuliante, F; Goodman, M; Karlan, BY; Hagedorn, CH; Eckman, J; Harr, J; Myers, J; Tucker, K; Zach, LA; Deyarmin, B; Hu, H; Kvecher, L; Larson, C; Mural, RJ; Somiari, S; Vicha, A; Zelinka, T; Bennett, J; Iacocca, M; Rabeno, B; Swanson, P; Latour, M; Lacombe, L; Têtu, B; Bergeron, A; McGraw, M; Staugaitis, SM; Chabot, J; Hibshoosh, H; Sepulveda, A; Su, T; Wang, T; Potapova, O; Voronina, O; Desjardins, L; Mariani, O; Roman-Roman, S; Sastre, X; Stern, M-H; Cheng, F; Signoretti, S; Berchuck, A; Bigner, D; Lipp, E; Marks, J; McCall, S; McLendon, R; Secord, A; Sharp, A; Behera, M; Brat, DJ; Chen, A; Delman, K; Force, S; Khuri, F; Magliocca, K; Maithel, S; Olson, JJ; Owonikoko, T; Pickens, A; Ramalingam, S; Shin, DM; Sica, G; Van Meir, EG; Zhang, H; Eijckenboom, W; Gillis, A; Korpershoek, E; Looijenga, L; Oosterhuis, W; Stoop, H; van Kessel, KE; Zwarthoff, EC; Calatozzolo, C; Cuppini, L; Cuzzubbo, S; DiMeco, F; Finocchiaro, G; Mattei, L; Perin, A; Pollo, B; Chen, C; Houck, J; Lohavanichbutr, P; Hartmann, A; Stoehr, C; Stoehr, R; Taubert, H; Wach, S; Wullich, B; Kycler, W; Murawa, D; Wiznerowicz, M; Chung, K; Edenfield, WJ; Martin, J; Baudin, E; Bubley, G; Bueno, R; De Rienzo, A; Richards, WG; Kalkanis, S; Mikkelsen, T; Noushmehr, H; Scarpace, L; Girard, N; Aymerich, M; Campo, E; Giné, E; Guillermo, AL; Van Bang, N; Hanh, PT; Phu, BD; Tang, Y; Colman, H; Evason, K; Dottino, PR; Martignetti, JA; Gabra, H; Juhl, H; Akeredolu, T; Stepa, S; Hoon, D; Ahn, K; Kang, KJ; Beuschlein, F; Breggia, A; Birrer, M; Bell, D; Borad, M; Bryce, AH; Castle, E; Chandan, V; Cheville, J; Copland, JA; Farnell, M; Flotte, T; Giama, N; Ho, T; Kendrick, M; Kocher, J-P; Kopp, K; Moser, C; Nagorney, D; O’Brien, D; O’Neill, BP; Patel, T; Petersen, G; Que, F; Rivera, M; Roberts, L; Smallridge, R; Smyrk, T; Stanton, M; Thompson, RH; Torbenson, M; Yang, JD; Zhang, L; Brimo, F; Ajani, JA; Angulo Gonzalez, AM; Behrens, C; Bondaruk, J; Broaddus, R; Czerniak, B; Esmaeli, B; Fujimoto, J; Gershenwald, J; Guo, C; Lazar, AJ; Logothetis, C; Meric-Bernstam, F; Moran, C; Ramondetta, L; Rice, D; Sood, A; Tamboli, P; Thompson, T; Troncoso, P; Tsao, A; Wistuba, I; Carter, C; Haydu, L; Hersey, P; Jakrot, V; Kakavand, H; Kefford, R; Lee, K; Long, G; Mann, G; Quinn, M; Saw, R; Scolyer, R; Shannon, K; Spillane, A; Stretch, J; Synott, M; Thompson, J; Wilmott, J; Al-Ahmadie, H; Chan, TA; Ghossein, R; Gopalan, A; Levine, DA; Reuter, V; Singer, S; Singh, B; Tien, NV; Broudy, T et al.
MLA Citation
Ellrott, K, Bailey, MH, Saksena, G, Covington, KR, Kandoth, C, Stewart, C, Hess, J, Ma, S, Chiotti, KE, McLellan, M, Sofia, HJ, Hutter, C, Getz, G, Wheeler, D, Ding, L, Caesar-Johnson, SJ, Demchok, JA, Felau, I, Kasapi, M, Ferguson, ML, Hutter, CM, Tarnuzzer, R, Wang, Z, Yang, L, Zenklusen, JC, Zhang, JJ, Chudamani, S, Liu, J, Lolla, L, Naresh, R, Pihl, T, Sun, Q, Wan, Y, Wu, Y, Cho, J, DeFreitas, T, Frazer, S, Gehlenborg, N, Heiman, DI, Kim, J, Lawrence, MS, Lin, P, Meier, S, Noble, MS, Voet, D, Zhang, H, Bernard, B, Chambwe, N, Dhankani, V, Knijnenburg, T, Kramer, R, Leinonen, K, Liu, Y, Miller, M, Reynolds, S, Shmulevich, I, Thorsson, V, Zhang, W, Akbani, R, Broom, BM, Hegde, AM, Ju, Z, Kanchi, RS, Korkut, A, Li, J, Liang, H, Ling, S, Liu, W, Lu, Y, Mills, GB, Ng, K-S, Rao, A, Ryan, M, Wang, J, Weinstein, JN, Zhang, J, Abeshouse, A, Armenia, J, Chakravarty, D, Chatila, WK, de Bruijn, I, Gao, J, Gross, BE, Heins, ZJ, Kundra, R, La, K, Ladanyi, M, Luna, A, Nissan, MG, Ochoa, A, Phillips, SM, Reznik, E, Sanchez-Vega, F, Sander, C, Schultz, N, Sheridan, R, Sumer, SO, Sun, Y, Taylor, BS, Wang, J, Zhang, H, Anur, P, Peto, M, Spellman, P, Benz, C, Stuart, JM, Wong, CK, Yau, C, Hayes, DN, Parker, , Wilkerson, MD, Ally, A, Balasundaram, M, Bowlby, R, Brooks, D, Carlsen, R, Chuah, E, Dhalla, N, Holt, R, Jones, SJM, Kasaian, K, Lee, D, Ma, Y, Marra, MA, Mayo, M, Moore, RA, Mungall, AJ, Mungall, K, Robertson, AG, Sadeghi, S, Schein, JE, Sipahimalani, P, Tam, A, Thiessen, N, Tse, K, Wong, T, Berger, AC, Beroukhim, R, Cherniack, AD, Cibulskis, C, Gabriel, SB, Gao, GF, Ha, G, Meyerson, M, Schumacher, SE, Shih, J, Kucherlapati, MH, Kucherlapati, RS, Baylin, S, Cope, L, Danilova, L, Bootwalla, MS, Lai, PH, Maglinte, DT, Van Den Berg, DJ, Weisenberger, DJ, Auman, JT, Balu, S, Bodenheimer, T, Fan, C, Hoadley, KA, Hoyle, AP, Jefferys, SR, Jones, CD, Meng, S, Mieczkowski, PA, Mose, LE, Perou, AH, Perou, CM, Roach, J, Shi, Y, Simons, JV, Skelly, T, Soloway, MG, Tan, D, Veluvolu, U, Fan, H, Hinoue, T, Laird, PW, Shen, H, Zhou, W, Bellair, M, Chang, K, Covington, K, Creighton, CJ, Dinh, H, Doddapaneni, H, Donehower, LA, Drummond, J, Gibbs, RA, Glenn, R, Hale, W, Han, Y, Hu, J, Korchina, V, Lee, S, Lewis, L, Li, W, Liu, X, Morgan, M, Morton, D, Muzny, D, Santibanez, J, Sheth, M, Shinbrot, E, Wang, L, Wang, M, Wheeler, DA, Xi, L, Zhao, F, Appelbaum, EL, Bailey, M, Cordes, MG, Fronick, CC, Fulton, LA, Fulton, RS, Mardis, ER, McLellan, MD, Miller, CA, Schmidt, HK, Wilson, RK, Crain, D, Curley, E, Gardner, J, Lau, K, Mallery, D, Morris, S, Paulauskis, J, Penny, R, Shelton, C, Shelton, T, Sherman, M, Thompson, E, Yena, P, Bowen, J, Gastier-Foster, JM, Gerken, M, Leraas, KM, Lichtenberg, TM, Ramirez, NC, Wise, L, Zmuda, E, Corcoran, N, Costello, T, Hovens, C, Carvalho, AL, de Carvalho, AC, Fregnani, JH, Longatto-Filho, A, Reis, RM, Scapulatempo-Neto, C, Silveira, HCS, Vidal, DO, Burnette, A, Eschbacher, J, Hermes, B, Noss, A, Singh, R, Anderson, ML, Castro, PD, Ittmann, M, Huntsman, D, Kohl, B, Le, X, Thorp, R, Andry, C, Duffy, ER, Lyadov, V, Paklina, O, Setdikova, G, Shabunin, A, Tavobilov, M, McPherson, C, Warnick, R, Berkowitz, R, Cramer, D, Feltmate, C, Horowitz, N, Kibel, A, Muto, M, Raut, CP, Malykh, A, Barnholtz-Sloan, JS, Barrett, W, Devine, K, Fulop, J, Ostrom, QT, Shimmel, K, Wolinsky, Y, Sloan, AE, De Rose, A, Giuliante, F, Goodman, M, Karlan, BY, Hagedorn, CH, Eckman, J, Harr, J, Myers, J, Tucker, K, Zach, LA, Deyarmin, B, Hu, H, Kvecher, L, Larson, C, Mural, RJ, Somiari, S, Vicha, A, Zelinka, T, Bennett, J, Iacocca, M, Rabeno, B, Swanson, P, Latour, M, Lacombe, L, Têtu, B, Bergeron, A, McGraw, M, Staugaitis, SM, Chabot, J, Hibshoosh, H, Sepulveda, A, Su, T, Wang, T, Potapova, O, Voronina, O, Desjardins, L, Mariani, O, Roman-Roman, S, Sastre, X, Stern, M-H, Cheng, F, Signoretti, S, Berchuck, A, Bigner, D, Lipp, E, Marks, J, McCall, S, McLendon, R, Secord, A, Sharp, A, Behera, M, Brat, DJ, Chen, A, Delman, K, Force, S, Khuri, F, Magliocca, K, Maithel, S, Olson, JJ, Owonikoko, T, Pickens, A, Ramalingam, S, Shin, DM, Sica, G, Van Meir, EG, Zhang, H, Eijckenboom, W, Gillis, A, Korpershoek, E, Looijenga, L, Oosterhuis, W, Stoop, H, van Kessel, KE, Zwarthoff, EC, Calatozzolo, C, Cuppini, L, Cuzzubbo, S, DiMeco, F, Finocchiaro, G, Mattei, L, Perin, A, Pollo, B, Chen, C, Houck, J, Lohavanichbutr, P, Hartmann, A, Stoehr, C, Stoehr, R, Taubert, H, Wach, S, Wullich, B, Kycler, W, Murawa, D, Wiznerowicz, M, Chung, K, Edenfield, WJ, Martin, J, Baudin, E, Bubley, G, Bueno, R, De Rienzo, A, Richards, WG, Kalkanis, S, Mikkelsen, T, Noushmehr, H, Scarpace, L, Girard, N, Aymerich, M, Campo, E, Giné, E, Guillermo, AL, Van Bang, N, Hanh, PT, Phu, BD, Tang, Y, Colman, H, Evason, K, Dottino, PR, Martignetti, JA, Gabra, H, Juhl, H, Akeredolu, T, Stepa, S, Hoon, D, Ahn, K, Kang, KJ, Beuschlein, F, Breggia, A, Birrer, M, Bell, D, Borad, M, Bryce, AH, Castle, E, Chandan, V, Cheville, J, Copland, JA, Farnell, M, Flotte, T, Giama, N, Ho, T, Kendrick, M, Kocher, J-P, Kopp, K, Moser, C, Nagorney, D, O’Brien, D, O’Neill, BP, Patel, T, Petersen, G, Que, F, Rivera, M, Roberts, L, Smallridge, R, Smyrk, T, Stanton, M, Thompson, RH, Torbenson, M, Yang, JD, Zhang, L, Brimo, F, Ajani, JA, Angulo Gonzalez, AM, Behrens, C, Bondaruk, J, Broaddus, R, Czerniak, B, Esmaeli, B, Fujimoto, J, Gershenwald, J, Guo, C, Lazar, AJ, Logothetis, C, Meric-Bernstam, F, Moran, C, Ramondetta, L, Rice, D, Sood, A, Tamboli, P, Thompson, T, Troncoso, P, Tsao, A, Wistuba, I, Carter, C, Haydu, L, Hersey, P, Jakrot, V, Kakavand, H, Kefford, R, Lee, K, Long, G, Mann, G, Quinn, M, Saw, R, Scolyer, R, Shannon, K, Spillane, A, Stretch, J, Synott, M, Thompson, J, Wilmott, J, Al-Ahmadie, H, Chan, TA, Ghossein, R, Gopalan, A, Levine, DA, Reuter, V, Singer, S, Singh, B, Tien, NV, and Broudy, T et al.. "Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines." Cell Systems 6.3 (March 2018): 271-281.e7.
Source
crossref
Published In
Cell Systems
Volume
6
Issue
3
Publish Date
2018
Start Page
271
End Page
281.e7
DOI
10.1016/j.cels.2018.03.002

Robust Tests for Additive Gene-Environment Interaction in Case-Control Studies Using Gene-Environment Independence.

There have been recent proposals advocating the use of additive gene-environment interaction instead of the widely used multiplicative scale, as a more relevant public health measure. Using gene-environment independence enhances statistical power for testing multiplicative interaction in case-control studies. However, under departure from this assumption, substantial bias in the estimates and inflated type I error in the corresponding tests can occur. In this paper, we extend the empirical Bayes (EB) approach previously developed for multiplicative interaction, which trades off between bias and efficiency in a data-adaptive way, to the additive scale. An EB estimator of the relative excess risk due to interaction is derived, and the corresponding Wald test is proposed with a general regression setting under a retrospective likelihood framework. We study the impact of gene-environment association on the resultant test with case-control data. Our simulation studies suggest that the EB approach uses the gene-environment independence assumption in a data-adaptive way and provides a gain in power compared with the standard logistic regression analysis and better control of type I error when compared with the analysis assuming gene-environment independence. We illustrate the methods with data from the Ovarian Cancer Association Consortium.

Authors
Liu, G; Mukherjee, B; Lee, S; Lee, AW; Wu, AH; Bandera, EV; Jensen, A; Rossing, MA; Moysich, KB; Chang-Claude, J; Doherty, JA; Gentry-Maharaj, A; Kiemeney, L; Gayther, SA; Modugno, F; Massuger, L; Goode, EL; Fridley, BL; Terry, KL; Cramer, DW; Ramus, SJ; Anton-Culver, H; Ziogas, A; Tyrer, JP; Schildkraut, JM; Kjaer, SK; Webb, PM; Ness, RB; Menon, U; Berchuck, A; Pharoah, PD; Risch, H; Pearce, CL; Ovarian Cancer Association Consortium,
MLA Citation
Liu, G, Mukherjee, B, Lee, S, Lee, AW, Wu, AH, Bandera, EV, Jensen, A, Rossing, MA, Moysich, KB, Chang-Claude, J, Doherty, JA, Gentry-Maharaj, A, Kiemeney, L, Gayther, SA, Modugno, F, Massuger, L, Goode, EL, Fridley, BL, Terry, KL, Cramer, DW, Ramus, SJ, Anton-Culver, H, Ziogas, A, Tyrer, JP, Schildkraut, JM, Kjaer, SK, Webb, PM, Ness, RB, Menon, U, Berchuck, A, Pharoah, PD, Risch, H, Pearce, CL, and Ovarian Cancer Association Consortium, . "Robust Tests for Additive Gene-Environment Interaction in Case-Control Studies Using Gene-Environment Independence." American Journal of Epidemiology 187.2 (February 2018): 366-377.
PMID
28633381
Source
epmc
Published In
American Journal of Epidemiology
Volume
187
Issue
2
Publish Date
2018
Start Page
366
End Page
377
DOI
10.1093/aje/kwx243

Menstrual pain and risk of epithelial ovarian cancer: Results from the Ovarian Cancer Association Consortium.

Menstrual pain, a common gynecological condition, has been associated with increased risk of ovarian cancer in some, but not all studies. Furthermore, potential variations in the association between menstrual pain and ovarian cancer by histologic subtype have not been adequately evaluated due to lack of power. We assessed menstrual pain using either direct questions about having experienced menstrual pain, or indirect questions about menstrual pain as indication for use of hormones or medications. We used multivariate logistic regression to calculate the odds ratio (OR) for the association between severe menstrual pain and ovarian cancer, adjusting for potential confounders and multinomial logistic regression to calculate ORs for specific histologic subtypes. We observed no association between ovarian cancer and menstrual pain assessed by indirect questions. Among studies using direct question, severe pain was associated with a small but significant increase in overall risk of ovarian cancer (OR = 1.07, 95% CI: 1.01-1.13), after adjusting for endometriosis and other potential confounders. The association appeared to be more relevant for clear cell (OR = 1.48, 95% CI: 1.10-1.99) and serous borderline (OR = 1.31, 95% CI: 1.05-1.63) subtypes. In this large international pooled analysis of case-control studies, we observed a small increase in risk of ovarian cancer for women reporting severe menstrual pain. While we observed an increased ovarian cancer risk with severe menstrual pain, the possibility of recall bias and undiagnosed endometriosis cannot be excluded. Future validation in prospective studies with detailed information on endometriosis is needed.

Authors
Babic, A; Harris, HR; Vitonis, AF; Titus, LJ; Jordan, SJ; Webb, PM; Australian Ovarian Cancer Study Group, ; Risch, HA; Rossing, MA; Doherty, JA; Wicklund, K; Goodman, MT; Modugno, F; Moysich, KB; Ness, RB; Kjaer, SK; Schildkraut, J; Berchuck, A; Pearce, CL; Wu, AH; Cramer, DW; Terry, KL
MLA Citation
Babic, A, Harris, HR, Vitonis, AF, Titus, LJ, Jordan, SJ, Webb, PM, Australian Ovarian Cancer Study Group, , Risch, HA, Rossing, MA, Doherty, JA, Wicklund, K, Goodman, MT, Modugno, F, Moysich, KB, Ness, RB, Kjaer, SK, Schildkraut, J, Berchuck, A, Pearce, CL, Wu, AH, Cramer, DW, and Terry, KL. "Menstrual pain and risk of epithelial ovarian cancer: Results from the Ovarian Cancer Association Consortium." International Journal of Cancer 142.3 (February 2018): 460-469.
PMID
28833087
Source
epmc
Published In
International Journal of Cancer
Volume
142
Issue
3
Publish Date
2018
Start Page
460
End Page
469
DOI
10.1002/ijc.31010

Estimating Cost-effectiveness of a Multimodal Ovarian Cancer Screening Program in the United States: Secondary Analysis of the UK Collaborative Trial of Ovarian Cancer Screening (UKCTOCS).

The United Kingdom Collaborative Trial of Ovarian Cancer Screening (UKCTOCS) is the largest randomized clinical trial to evaluate screening's impact on ovarian cancer mortality, assigning women to multimodal screening (MMS) with serum cancer antigen 125 (CA-125) interpreted using a risk algorithm. If the MMS screening method is eventually shown to reduce mortality and be cost-effective, then it may be accepted by the medical community as a feasible screening tool.To estimate the cost-effectiveness of an MMS screening program in the United States.A Markov simulation model was constructed using data from UKCTOCS to compare MMS with no screening in the United States. Screening would begin at the age of 50 years for women in the general population. Published estimates of the long-term effect of MMS screening on ovarian cancer mortality and the trial's published hazard ratios were used to simulate mortality estimates up to 40 years from start of screening. Base-case costs included CA-125, ultrasound, and false-positive work-up results, in addition to a risk algorithm cost estimate of $100. The utility and costs of ovarian cancer treatment were incorporated into the model.Screening strategies varied by costs of the algorithm and treatment for advanced ovarian cancer, rates of screening compliance, ovarian cancer incidence, and extrapolation of ovarian cancer mortality.Costs, quality-adjusted life-years (QALYs), and mortality reduction of ovarian cancer screening.Multimodal screening is both more expensive and more effective in reducing ovarian cancer mortality over a lifetime than no screening. After accounting for uncertainty in the underlying parameters, screening women starting at age 50 years with MMS is cost-effective 70% of the time, when decision makers are willing to pay $150 000 per QALY. Screening reduced mortality by 15%, with an incremental cost-effectiveness ratio (ICER) ranging from $106 187 (95% CI, $97 496-$127 793) to $155 256 (95% CI, $150 369-$198 567).Ovarian cancer screening is potentially cost-effective in the United States depending on final significance of mortality reduction and cost of the CA-125 risk algorithm. These results are limited by uncertainty around the effect of screening on ovarian cancer mortality beyond the 11 years of UKCTOCS.

Authors
Moss, HA; Berchuck, A; Neely, ML; Myers, ER; Havrilesky, LJ
MLA Citation
Moss, HA, Berchuck, A, Neely, ML, Myers, ER, and Havrilesky, LJ. "Estimating Cost-effectiveness of a Multimodal Ovarian Cancer Screening Program in the United States: Secondary Analysis of the UK Collaborative Trial of Ovarian Cancer Screening (UKCTOCS)." Jama Oncology 4.2 (February 2018): 190-195.
PMID
29222541
Source
epmc
Published In
Jama Oncology
Volume
4
Issue
2
Publish Date
2018
Start Page
190
End Page
195
DOI
10.1001/jamaoncol.2017.4211

Urinary diversion in the genitourinary cancer survivor.

Urinary diversion has been in the scope of practice of Gynecologic Oncologists since the inception of the sub-specialty. However, many fewer urinary diversions are performed currently than in the past due to improved prevention of cervical cancer. The intent of this article is to provide a state of the art review for Gynecologic Oncologists. Surgeons performing these complex procedures must be knowledgeable about the differences between various types of continent and non-continent urinary diversions, and the principles of pre and post-operative care. This includes the indications for surgery and pre-operative considerations, types of urinary diversion including continent and non-continent diversions, and the need for long-term follow-up with patients who undergo urinary diversion requiring lifelong follow up and testing for surveillance of the upper urinary tracts and to monitor for nutritional and metabolic alterations.

Authors
Johnson, OK; Berchuck, A; Secord, AA; Peterson, AC
MLA Citation
Johnson, OK, Berchuck, A, Secord, AA, and Peterson, AC. "Urinary diversion in the genitourinary cancer survivor." Gynecologic Oncology 148.2 (February 2018): 414-421. (Review)
PMID
29191437
Source
epmc
Published In
Gynecologic Oncology
Volume
148
Issue
2
Publish Date
2018
Start Page
414
End Page
421
DOI
10.1016/j.ygyno.2017.10.021

Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility.

Epithelial ovarian cancer (EOC) is the fifth leading cause of cancer mortality in American women. Normal ovarian physiology is intricately connected to small GTP binding proteins of the Ras superfamily (Ras, Rho, Rab, Arf, and Ran) which govern processes such as signal transduction, cell proliferation, cell motility, and vesicle transport. We hypothesized that common germline variation in genes encoding small GTPases is associated with EOC risk. We investigated 322 variants in 88 small GTPase genes in germline DNA of 18,736 EOC patients and 26,138 controls of European ancestry using a custom genotype array and logistic regression fitting log-additive models. Functional annotation was used to identify biofeatures and expression quantitative trait loci that intersect with risk variants. One variant, ARHGEF10L (Rho guanine nucleotide exchange factor 10 like) rs2256787, was associated with increased endometrioid EOC risk (OR = 1.33, p = 4.46 x 10-6). Other variants of interest included another in ARHGEF10L, rs10788679, which was associated with invasive serous EOC risk (OR = 1.07, p = 0.00026) and two variants in AKAP6 (A-kinase anchoring protein 6) which were associated with risk of invasive EOC (rs1955513, OR = 0.90, p = 0.00033; rs927062, OR = 0.94, p = 0.00059). Functional annotation revealed that the two ARHGEF10L variants were located in super-enhancer regions and that AKAP6 rs927062 was associated with expression of GTPase gene ARHGAP5 (Rho GTPase activating protein 5). Inherited variants in ARHGEF10L and AKAP6, with potential transcriptional regulatory function and association with EOC risk, warrant investigation in independent EOC study populations.

Authors
Earp, M; Tyrer, JP; Winham, SJ; Lin, H-Y; Chornokur, G; Dennis, J; Aben, KKH; Anton-Culver, H; Antonenkova, N; Bandera, EV; Bean, YT; Beckmann, MW; Bjorge, L; Bogdanova, N; Brinton, LA; Brooks-Wilson, A; Bruinsma, F; Bunker, CH; Butzow, R; Campbell, IG; Carty, K; Chang-Claude, J; Cook, LS; Cramer, DW; Cunningham, JM; Cybulski, C; Dansonka-Mieszkowska, A; Despierre, E; Doherty, JA; Dörk, T; du Bois, A; Dürst, M; Easton, DF; Eccles, DM; Edwards, RP; Ekici, AB; Fasching, PA; Fridley, BL; Gentry-Maharaj, A; Giles, GG; Glasspool, R; Goodman, MT; Gronwald, J; Harter, P; Hein, A; Heitz, F; Hildebrandt, MAT; Hillemanns, P; Hogdall, CK; Høgdall, E; Hosono, S; Iversen, ES; Jakubowska, A; Jensen, A; Ji, B-T; Jung, AY; Karlan, BY; Kellar, M; Kiemeney, LA; Kiong Lim, B; Kjaer, SK; Krakstad, C; Kupryjanczyk, J; Lambrechts, D; Lambrechts, S; Le, ND; Lele, S; Lester, J; Levine, DA; Li, Z; Liang, D; Lissowska, J; Lu, K; Lubinski, J; Lundvall, L; Massuger, LFAG; Matsuo, K; McGuire, V; McLaughlin, JR; McNeish, I; Menon, U; Milne, RL; Modugno, F; Moysich, KB; Ness, RB; Nevanlinna, H; Odunsi, K; Olson, SH; Orlow, I; Orsulic, S; Paul, J; Pejovic, T; Pelttari, LM; Permuth, JB; Pike, MC; Poole, EM; Rosen, B; Rossing, MA; Rothstein, JH; Runnebaum, IB; Rzepecka, IK; Schernhammer, E; Schwaab, I; Shu, X-O; Shvetsov, YB; Siddiqui, N; Sieh, W; Song, H; Southey, MC; Spiewankiewicz, B; Sucheston-Campbell, L; Tangen, IL; Teo, S-H; Terry, KL; Thompson, PJ; Thomsen, L; Tworoger, SS; van Altena, AM; Vergote, I; Vestrheim Thomsen, LC; Vierkant, RA; Walsh, CS; Wang-Gohrke, S; Wentzensen, N; Whittemore, AS; Wicklund, KG; Wilkens, LR; Woo, Y-L; Wu, AH; Wu, X; Xiang, Y-B; Yang, H; Zheng, W; Ziogas, A; Lee, AW; Pearce, CL; Berchuck, A; Schildkraut, JM; Ramus, SJ; Monteiro, ANA; Narod, SA; Sellers, TA; Gayther, SA; Kelemen, LE; Chenevix-Trench, G; Risch, HA; Pharoah, PDP; Goode, EL; Phelan, CM
MLA Citation
Earp, M, Tyrer, JP, Winham, SJ, Lin, H-Y, Chornokur, G, Dennis, J, Aben, KKH, Anton-Culver, H, Antonenkova, N, Bandera, EV, Bean, YT, Beckmann, MW, Bjorge, L, Bogdanova, N, Brinton, LA, Brooks-Wilson, A, Bruinsma, F, Bunker, CH, Butzow, R, Campbell, IG, Carty, K, Chang-Claude, J, Cook, LS, Cramer, DW, Cunningham, JM, Cybulski, C, Dansonka-Mieszkowska, A, Despierre, E, Doherty, JA, Dörk, T, du Bois, A, Dürst, M, Easton, DF, Eccles, DM, Edwards, RP, Ekici, AB, Fasching, PA, Fridley, BL, Gentry-Maharaj, A, Giles, GG, Glasspool, R, Goodman, MT, Gronwald, J, Harter, P, Hein, A, Heitz, F, Hildebrandt, MAT, Hillemanns, P, Hogdall, CK, Høgdall, E, Hosono, S, Iversen, ES, Jakubowska, A, Jensen, A, Ji, B-T, Jung, AY, Karlan, BY, Kellar, M, Kiemeney, LA, Kiong Lim, B, Kjaer, SK, Krakstad, C, Kupryjanczyk, J, Lambrechts, D, Lambrechts, S, Le, ND, Lele, S, Lester, J, Levine, DA, Li, Z, Liang, D, Lissowska, J, Lu, K, Lubinski, J, Lundvall, L, Massuger, LFAG, Matsuo, K, McGuire, V, McLaughlin, JR, McNeish, I, Menon, U, Milne, RL, Modugno, F, Moysich, KB, Ness, RB, Nevanlinna, H, Odunsi, K, Olson, SH, Orlow, I, Orsulic, S, Paul, J, Pejovic, T, Pelttari, LM, Permuth, JB, Pike, MC, Poole, EM, Rosen, B, Rossing, MA, Rothstein, JH, Runnebaum, IB, Rzepecka, IK, Schernhammer, E, Schwaab, I, Shu, X-O, Shvetsov, YB, Siddiqui, N, Sieh, W, Song, H, Southey, MC, Spiewankiewicz, B, Sucheston-Campbell, L, Tangen, IL, Teo, S-H, Terry, KL, Thompson, PJ, Thomsen, L, Tworoger, SS, van Altena, AM, Vergote, I, Vestrheim Thomsen, LC, Vierkant, RA, Walsh, CS, Wang-Gohrke, S, Wentzensen, N, Whittemore, AS, Wicklund, KG, Wilkens, LR, Woo, Y-L, Wu, AH, Wu, X, Xiang, Y-B, Yang, H, Zheng, W, Ziogas, A, Lee, AW, Pearce, CL, Berchuck, A, Schildkraut, JM, Ramus, SJ, Monteiro, ANA, Narod, SA, Sellers, TA, Gayther, SA, Kelemen, LE, Chenevix-Trench, G, Risch, HA, Pharoah, PDP, Goode, EL, and Phelan, CM. "Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility." Plos One 13.7 (January 2018): e0197561-null.
PMID
29979793
Source
epmc
Published In
Plos One
Volume
13
Issue
7
Publish Date
2018
Start Page
e0197561
DOI
10.1371/journal.pone.0197561

Maintenance Poly (ADP-ribose) Polymerase Inhibitor Therapy for Ovarian Cancer: Precision Oncology or One Size Fits All?

Authors
Berchuck, A; Secord, AA; Moss, HA; Havrilesky, LJ
MLA Citation
Berchuck, A, Secord, AA, Moss, HA, and Havrilesky, LJ. "Maintenance Poly (ADP-ribose) Polymerase Inhibitor Therapy for Ovarian Cancer: Precision Oncology or One Size Fits All?." Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology 35.36 (December 2017): 3999-4002.
PMID
29072978
Source
epmc
Published In
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
Volume
35
Issue
36
Publish Date
2017
Start Page
3999
End Page
4002
DOI
10.1200/jco.2017.74.5752

Genome-wide association study evaluating single-nucleotide polymorphisms and outcomes in patients with advanced stage serous ovarian or primary peritoneal cancer: An NRG Oncology/Gynecologic Oncology Group study.

This study evaluated single nucleotide polymorphisms (SNPs) associated with progression free (PFS) and overall survival (OS) in patients with advanced stage serous EOC.Patients enrolled in GOG-172 and 182 who provided specimens for translational research and consent were included. Germline DNA was evaluated with the Illumina's HumanOMNI1-Quad beadchips and scanned using Illumina's iScan optical imaging system. SNPs with allele frequency>0.05 and genotyping rate>0.98 were included. Analysis of SNPs for PFS and OS was done using Cox regression. Statistical significance was determined using Bonferroni corrected p-values with genomic control adjustment.The initial GWAS analysis included 1,124,677 markers in 396 patients. To obtain the final data set, quality control checks were performed and limited to serous tumors and self-identified Caucasian race. In total 636,555 SNPs and 289 patients passed all the filters. The pre-specified statistical level of significance was 7.855e-08. No SNPs met this criteria for PFS or OS, however, two SNPs were close to significance (rs10899426 p-2.144e-08) (rs6256 p-9.774e-07) for PFS and 2 different SNPs were identified (rs295315 p-7.536e-07; rs17693104 p-7.734e-07) which were close to significance for OS.Using the pre-specified level of significance of 1×10-08, we did not identify any SNPs of statistical significance for OS or PFS, however several were close. The SNP's identified in this GWAS study will require validation and these preliminary findings may lead to identification of novel pathways and biomarkers.

Authors
Moore, KN; Tritchler, D; Kaufman, KM; Lankes, H; Quinn, MCJ; Ovarian Cancer Association Consortium, ; Van Le, L; Berchuck, A; Backes, FJ; Tewari, KS; Lee, RB; Kesterson, JP; Wenham, RM; Armstrong, DK; Krivak, TC; Bookman, MA; Birrer, MJ
MLA Citation
Moore, KN, Tritchler, D, Kaufman, KM, Lankes, H, Quinn, MCJ, Ovarian Cancer Association Consortium, , Van Le, L, Berchuck, A, Backes, FJ, Tewari, KS, Lee, RB, Kesterson, JP, Wenham, RM, Armstrong, DK, Krivak, TC, Bookman, MA, and Birrer, MJ. "Genome-wide association study evaluating single-nucleotide polymorphisms and outcomes in patients with advanced stage serous ovarian or primary peritoneal cancer: An NRG Oncology/Gynecologic Oncology Group study." Gynecologic Oncology 147.2 (November 2017): 396-401.
PMID
28935272
Source
epmc
Published In
Gynecologic Oncology
Volume
147
Issue
2
Publish Date
2017
Start Page
396
End Page
401
DOI
10.1016/j.ygyno.2017.08.024

Race-specific molecular alterations correlate with differential outcomes for black and white endometrioid endometrial cancer patients.

The objective of this study was to identify molecular alterations associated with disease outcomes for white and black patients with endometrioid endometrial cancer (EEC).EEC samples from black (n = 17) and white patients (n = 13) were analyzed by proteomics (liquid chromatography-tandem mass spectrometry) and transcriptomics (RNA-seq). Coordinate alterations were validated with RNA-seq data from black (n = 49) and white patients (n = 216). Concordantly altered candidates were further tested for associations with race-specific progression-free survival (PFS) in black (n = 64) or white patients (n = 267) via univariate and multivariate Cox regression modeling and log-rank testing.Discovery analyses revealed significantly altered candidate proteins and transcripts between black and white patients, suggesting modulation of tumor cell viability in black patients and cell death signaling in black and white patients. Eighty-nine candidates were validated as altered between these patient cohorts, and a subset significantly correlated with differential PFS. White-specific PFS candidates included serpin family A member 4 (SERPINA4; hazard ratio [HR], 0.89; Wald P value = .02), integrin subunit α3 (ITGA3; HR, 0.76; P = .03), and Bet1 Golgi vesicular membrane trafficking protein like (BET1L; HR, 0.48; P = .04). Black-specific PFS candidates included family with sequence similarity 228 member B (FAM228B; HR, 0.13; P = .001) and HEAT repeat containing 6 (HEATR6; HR, 4.94; P = .047). Several candidates were also associated with overall survival (SERPINA4 and ITGA3) as well as PFS independent of disease stage, grade and myometrial invasion (SERPINA4, BET1L and FAM228B).This study has identified and validated molecular alterations in tumors from black and white EEC patients, including candidates significantly associated with altered disease outcomes within these patient cohorts. Cancer 2017;123:4004-12. © 2017 American Cancer Society.

Authors
Bateman, NW; Dubil, EA; Wang, G; Hood, BL; Oliver, JM; Litzi, TA; Gist, GD; Mitchell, DA; Blanton, B; Phippen, NT; Tian, C; Zahn, CM; Cohn, DE; Havrilesky, LJ; Berchuck, A; Shriver, CD; Darcy, KM; Hamilton, CA; Conrads, TP; Maxwell, GL
MLA Citation
Bateman, NW, Dubil, EA, Wang, G, Hood, BL, Oliver, JM, Litzi, TA, Gist, GD, Mitchell, DA, Blanton, B, Phippen, NT, Tian, C, Zahn, CM, Cohn, DE, Havrilesky, LJ, Berchuck, A, Shriver, CD, Darcy, KM, Hamilton, CA, Conrads, TP, and Maxwell, GL. "Race-specific molecular alterations correlate with differential outcomes for black and white endometrioid endometrial cancer patients." Cancer 123.20 (October 2017): 4004-4012.
PMID
28654152
Source
epmc
Published In
Cancer
Volume
123
Issue
20
Publish Date
2017
Start Page
4004
End Page
4012
DOI
10.1002/cncr.30813

Opposing effects of cancer-type-specific SPOP mutants on BET protein degradation and sensitivity to BET inhibitors.

It is generally assumed that recurrent mutations within a given cancer driver gene elicit similar drug responses. Cancer genome studies have identified recurrent but divergent missense mutations affecting the substrate-recognition domain of the ubiquitin ligase adaptor SPOP in endometrial and prostate cancers. The therapeutic implications of these mutations remain incompletely understood. Here we analyzed changes in the ubiquitin landscape induced by endometrial cancer-associated SPOP mutations and identified BRD2, BRD3 and BRD4 proteins (BETs) as SPOP-CUL3 substrates that are preferentially degraded by endometrial cancer-associated SPOP mutants. The resulting reduction of BET protein levels sensitized cancer cells to BET inhibitors. Conversely, prostate cancer-specific SPOP mutations resulted in impaired degradation of BETs, promoting their resistance to pharmacologic inhibition. These results uncover an oncogenomics paradox, whereby mutations mapping to the same domain evoke opposing drug susceptibilities. Specifically, we provide a molecular rationale for the use of BET inhibitors to treat patients with endometrial but not prostate cancer who harbor SPOP mutations.

Authors
Janouskova, H; El Tekle, G; Bellini, E; Udeshi, ND; Rinaldi, A; Ulbricht, A; Bernasocchi, T; Civenni, G; Losa, M; Svinkina, T; Bielski, CM; Kryukov, GV; Cascione, L; Napoli, S; Enchev, RI; Mutch, DG; Carney, ME; Berchuck, A; Winterhoff, BJN; Broaddus, RR; Schraml, P; Moch, H; Bertoni, F; Catapano, CV; Peter, M; Carr, SA; Garraway, LA; Wild, PJ; Theurillat, J-PP
MLA Citation
Janouskova, H, El Tekle, G, Bellini, E, Udeshi, ND, Rinaldi, A, Ulbricht, A, Bernasocchi, T, Civenni, G, Losa, M, Svinkina, T, Bielski, CM, Kryukov, GV, Cascione, L, Napoli, S, Enchev, RI, Mutch, DG, Carney, ME, Berchuck, A, Winterhoff, BJN, Broaddus, RR, Schraml, P, Moch, H, Bertoni, F, Catapano, CV, Peter, M, Carr, SA, Garraway, LA, Wild, PJ, and Theurillat, J-PP. "Opposing effects of cancer-type-specific SPOP mutants on BET protein degradation and sensitivity to BET inhibitors." Nature Medicine 23.9 (September 2017): 1046-1054.
PMID
28805821
Source
epmc
Published In
Nature Medicine
Volume
23
Issue
9
Publish Date
2017
Start Page
1046
End Page
1054
DOI
10.1038/nm.4372

Analyses of germline variants associated with ovarian cancer survival identify functional candidates at the 1q22 and 19p12 outcome loci.

We previously identified associations with ovarian cancer outcome at five genetic loci. To identify putatively causal genetic variants and target genes, we prioritized two ovarian outcome loci (1q22 and 19p12) for further study. Bioinformatic and functional genetic analyses indicated that MEF2D and ZNF100 are targets of candidate outcome variants at 1q22 and 19p12, respectively. At 19p12, the chromatin interaction of a putative regulatory element with the ZNF100 promoter region correlated with candidate outcome variants. At 1q22, putative regulatory elements enhanced MEF2D promoter activity and haplotypes containing candidate outcome variants modulated these effects. In a public dataset, MEF2D and ZNF100 expression were both associated with ovarian cancer progression-free or overall survival time. In an extended set of 6,162 epithelial ovarian cancer patients, we found that functional candidates at the 1q22 and 19p12 loci, as well as other regional variants, were nominally associated with patient outcome; however, no associations reached our threshold for statistical significance (p<1×10-5). Larger patient numbers will be needed to convincingly identify any true associations at these loci.

Authors
Glubb, DM; Johnatty, SE; Quinn, MCJ; O'Mara, TA; Tyrer, JP; Gao, B; Fasching, PA; Beckmann, MW; Lambrechts, D; Vergote, I; Velez Edwards, DR; Beeghly-Fadiel, A; Benitez, J; Garcia, MJ; Goodman, MT; Thompson, PJ; Dörk, T; Dürst, M; Modungo, F; Moysich, K; Heitz, F; du Bois, A; Pfisterer, J; Hillemanns, P; AGO Study Group, ; Karlan, BY; Lester, J; Goode, EL; Cunningham, JM; Winham, SJ; Larson, MC; McCauley, BM; Kjær, SK; Jensen, A; Schildkraut, JM; Berchuck, A; Cramer, DW; Terry, KL; Salvesen, HB et al.
MLA Citation
Glubb, DM, Johnatty, SE, Quinn, MCJ, O'Mara, TA, Tyrer, JP, Gao, B, Fasching, PA, Beckmann, MW, Lambrechts, D, Vergote, I, Velez Edwards, DR, Beeghly-Fadiel, A, Benitez, J, Garcia, MJ, Goodman, MT, Thompson, PJ, Dörk, T, Dürst, M, Modungo, F, Moysich, K, Heitz, F, du Bois, A, Pfisterer, J, Hillemanns, P, AGO Study Group, , Karlan, BY, Lester, J, Goode, EL, Cunningham, JM, Winham, SJ, Larson, MC, McCauley, BM, Kjær, SK, Jensen, A, Schildkraut, JM, Berchuck, A, Cramer, DW, Terry, KL, and Salvesen, HB et al. "Analyses of germline variants associated with ovarian cancer survival identify functional candidates at the 1q22 and 19p12 outcome loci." Oncotarget 8.39 (September 2017): 64670-64684.
PMID
29029385
Source
epmc
Published In
Oncotarget
Volume
8
Issue
39
Publish Date
2017
Start Page
64670
End Page
64684
DOI
10.18632/oncotarget.18501

RE: “RISK PREDICTION FOR EPITHELIAL OVARIAN CANCER IN 11 UNITED STATES–BASED CASE-CONTROL STUDIES: INCORPORATION OF EPIDEMIOLOGIC RISK FACTORS AND 17 CONFIRMED GENETIC LOCI”

MLA Citation
"RE: “RISK PREDICTION FOR EPITHELIAL OVARIAN CANCER IN 11 UNITED STATES–BASED CASE-CONTROL STUDIES: INCORPORATION OF EPIDEMIOLOGIC RISK FACTORS AND 17 CONFIRMED GENETIC LOCI”." American Journal of Epidemiology 186.1 (July 1, 2017): 130-130.
Source
crossref
Published In
American Journal of Epidemiology
Volume
186
Issue
1
Publish Date
2017
Start Page
130
End Page
130
DOI
10.1093/aje/kwx151

The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases.

Small cell carcinoma of the ovary, hypercalcemic type, (SCCOHT) is the most common undifferentiated ovarian cancer in women aged under 40 years. SCCOHT is a monogenic disease, characterized by germline and somatic SMARCA4 mutations. Recent studies have stressed its morphological and clinical similarity to malignant rhabdoid tumours, which are usually caused by mutations in the related gene, SMARCB1. While familial tumours are rare, the incidence of germline mutations is relatively high, with up to 43% of SCCOHTs and 35% of rhabdoid tumours caused by germline mutations in SMARCA4 and SMARCB1, respectively. We report two new familial cases of SCCOHT. Affected members in both families and the associated tumours were found to carry SMARCA4 germline and somatic mutations, respectively, leading to loss of SMARCA4 protein expression in the tumours. Despite the rarity of familial SCCOHT, the high incidence of germline mutations is important to note, as without a family history of the disease, the hereditary nature of SCCOHT may be missed, especially if the mutation was inherited from the father or acquired de novo. The similarity between SCCOHT and rhabdoid tumours should be recognized, as infant carriers of SMARCA4 mutations may be at risk for these tumours in addition to SCCOHT.

Authors
Witkowski, L; Donini, N; Byler-Dann, R; Knost, JA; Albrecht, S; Berchuck, A; McCluggage, WG; Hasselblatt, M; Foulkes, WD
MLA Citation
Witkowski, L, Donini, N, Byler-Dann, R, Knost, JA, Albrecht, S, Berchuck, A, McCluggage, WG, Hasselblatt, M, and Foulkes, WD. "The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases." Familial Cancer 16.3 (July 2017): 395-399.
PMID
27866340
Source
epmc
Published In
Familial Cancer
Volume
16
Issue
3
Publish Date
2017
Start Page
395
End Page
399
DOI
10.1007/s10689-016-9957-6

Early Detection of Ovarian Cancer using the Risk of Ovarian Cancer Algorithm with Frequent CA125 Testing in Women at Increased Familial Risk - Combined Results from Two Screening Trials.

Purpose: Women at familial/genetic ovarian cancer risk often undergo screening despite unproven efficacy. Research suggests each woman has her own CA125 baseline; significant increases above this level may identify cancers earlier than standard 6- to 12-monthly CA125 > 35 U/mL.Experimental Design: Data from prospective Cancer Genetics Network and Gynecologic Oncology Group trials, which screened 3,692 women (13,080 woman-screening years) with a strong breast/ovarian cancer family history or BRCA1/2 mutations, were combined to assess a novel screening strategy. Specifically, serum CA125 q3 months, evaluated using a risk of ovarian cancer algorithm (ROCA), detected significant increases above each subject's baseline, which triggered transvaginal ultrasound. Specificity and positive predictive value (PPV) were compared with levels derived from general population screening (specificity 90%, PPV 10%), and stage-at-detection was compared with historical high-risk controls.Results: Specificity for ultrasound referral was 92% versus 90% (P = 0.0001), and PPV was 4.6% versus 10% (P > 0.10). Eighteen of 19 malignant ovarian neoplasms [prevalent = 4, incident = 6, risk-reducing salpingo-oophorectomy (RRSO) = 9] were detected via screening or RRSO. Among incident cases (which best reflect long-term screening performance), three of six invasive cancers were early-stage (I/II; 50% vs. 10% historical BRCA1 controls; P = 0.016). Six of nine RRSO-related cases were stage I. ROCA flagged three of six (50%) incident cases before CA125 exceeded 35 U/mL. Eight of nine patients with stages 0/I/II ovarian cancer were alive at last follow-up (median 6 years).Conclusions: For screened women at familial/genetic ovarian cancer risk, ROCA q3 months had better early-stage sensitivity at high specificity, and low yet possibly acceptable PPV compared with CA125 > 35 U/mL q6/q12 months, warranting further larger cohort evaluation. Clin Cancer Res; 23(14); 3628-37. ©2017 AACR.

Authors
Skates, SJ; Greene, MH; Buys, SS; Mai, PL; Brown, P; Piedmonte, M; Rodriguez, G; Schorge, JO; Sherman, M; Daly, MB; Rutherford, T; Brewster, WR; O'Malley, DM; Partridge, E; Boggess, J; Drescher, CW; Isaacs, C; Berchuck, A; Domchek, S; Davidson, SA; Edwards, R; Elg, SA; Wakeley, K; Phillips, K-A; Armstrong, D; Horowitz, I; Fabian, CJ; Walker, J; Sluss, PM; Welch, W; Minasian, L; Horick, NK; Kasten, CH; Nayfield, S; Alberts, D; Finkelstein, DM; Lu, KH
MLA Citation
Skates, SJ, Greene, MH, Buys, SS, Mai, PL, Brown, P, Piedmonte, M, Rodriguez, G, Schorge, JO, Sherman, M, Daly, MB, Rutherford, T, Brewster, WR, O'Malley, DM, Partridge, E, Boggess, J, Drescher, CW, Isaacs, C, Berchuck, A, Domchek, S, Davidson, SA, Edwards, R, Elg, SA, Wakeley, K, Phillips, K-A, Armstrong, D, Horowitz, I, Fabian, CJ, Walker, J, Sluss, PM, Welch, W, Minasian, L, Horick, NK, Kasten, CH, Nayfield, S, Alberts, D, Finkelstein, DM, and Lu, KH. "Early Detection of Ovarian Cancer using the Risk of Ovarian Cancer Algorithm with Frequent CA125 Testing in Women at Increased Familial Risk - Combined Results from Two Screening Trials." Clinical Cancer Research : an Official Journal of the American Association for Cancer Research 23.14 (July 2017): 3628-3637.
PMID
28143870
Source
epmc
Published In
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
Volume
23
Issue
14
Publish Date
2017
Start Page
3628
End Page
3637
DOI
10.1158/1078-0432.CCR-15-2750

Analyses of germline variants associated with ovarian cancer survival identify functional candidates at the 1q22 and 19p12 outcome loci.

We previously identified associations with ovarian cancer outcome at five genetic loci. To identify putatively causal genetic variants and target genes, we prioritized two ovarian outcome loci (1q22 and 19p12) for further study. Bioinformatic and functional genetic analyses indicated that MEF2D and ZNF100 are targets of candidate outcome variants at 1q22 and 19p12, respectively. At 19p12, the chromatin interaction of a putative regulatory element with the ZNF100 promoter region correlated with candidate outcome variants. At 1q22, putative regulatory elements enhanced MEF2D promoter activity and haplotypes containing candidate outcome variants modulated these effects. In a public dataset, MEF2D and ZNF100 expression were both associated with ovarian cancer progression-free or overall survival time. In an extended set of 6,162 epithelial ovarian cancer patients, we found that functional candidates at the 1q22 and 19p12 loci, as well as other regional variants, were nominally associated with patient outcome; however, no associations reached our threshold for statistical significance (p<1×10-5). Larger patient numbers will be needed to convincingly identify any true associations at these loci.

Authors
Glubb, DM; Johnatty, SE; Quinn, MCJ; O'Mara, TA; Tyrer, JP; Gao, B; Fasching, PA; Beckmann, MW; Lambrechts, D; Vergote, I; Velez Edwards, DR; Beeghly-Fadiel, A; Benitez, J; Garcia, MJ; Goodman, MT; Thompson, PJ; Dörk, T; Dürst, M; Modungo, F; Moysich, K; Heitz, F; du Bois, A; Pfisterer, J; Hillemanns, P; Karlan, BY; Lester, J; Goode, EL; Cunningham, JM; Winham, SJ; Larson, MC; McCauley, BM; Kjær, SK; Jensen, A; Schildkraut, JM; Berchuck, A; Cramer, DW; Terry, KL; Salvesen, HB; Bjorge, L; Webb, PM; Grant, P; Pejovic, T; Moffitt, M; Hogdall, CK; Hogdall, E; Paul, J; Glasspool, R; Bernardini, M; Tone, A; Huntsman, D; Woo, M; Group, A; deFazio, A; Kennedy, CJ; Pharoah, PDP; MacGregor, S; Chenevix-Trench, G
MLA Citation
Glubb, DM, Johnatty, SE, Quinn, MCJ, O'Mara, TA, Tyrer, JP, Gao, B, Fasching, PA, Beckmann, MW, Lambrechts, D, Vergote, I, Velez Edwards, DR, Beeghly-Fadiel, A, Benitez, J, Garcia, MJ, Goodman, MT, Thompson, PJ, Dörk, T, Dürst, M, Modungo, F, Moysich, K, Heitz, F, du Bois, A, Pfisterer, J, Hillemanns, P, Karlan, BY, Lester, J, Goode, EL, Cunningham, JM, Winham, SJ, Larson, MC, McCauley, BM, Kjær, SK, Jensen, A, Schildkraut, JM, Berchuck, A, Cramer, DW, Terry, KL, Salvesen, HB, Bjorge, L, Webb, PM, Grant, P, Pejovic, T, Moffitt, M, Hogdall, CK, Hogdall, E, Paul, J, Glasspool, R, Bernardini, M, Tone, A, Huntsman, D, Woo, M, Group, A, deFazio, A, Kennedy, CJ, Pharoah, PDP, MacGregor, S, and Chenevix-Trench, G. "Analyses of germline variants associated with ovarian cancer survival identify functional candidates at the 1q22 and 19p12 outcome loci." Oncotarget (June 15, 2017).
PMID
28644137
Source
epmc
Published In
Oncotarget
Publish Date
2017
DOI
10.18632/oncotarget.18501

Common Genetic Variation and Susceptibility to Ovarian Cancer: Current Insights and Future Directions.

In this review, we summarize current progress in the genetic epidemiology of epithelial ovarian cancer (EOC), focusing exclusively on elucidating the role of common germline genetic variation in conferring susceptibility to EOC. We provide an overview of the more than 30 EOC risk loci identified to date by genome-wide association studies (GWAS) and describe the contribution of large-scale, cross-cancer type, custom genotyping projects such as the OncoArray and the Collaborative Oncological Gene-Environment Study to locus discovery and replication. We discuss the histotype-specific nature of these EOC risk loci, pleiotropy or overlapping genetic effects between EOC and other hormone-related cancer types, and the application of findings to polygenic risk prediction for EOC. The second part of the article offers a concise review of primarily laboratory-based studies that have led to the identification of several putative EOC susceptibility genes using common variants at the known EOC risk loci as starting points. More global biological insights emerging from network- and pathway-based analyses of GWAS for EOC susceptibility are also highlighted. Finally, we delve into potential future directions, including the need to identify EOC risk loci in non-European populations and the next generation of GWAS functional studies that are likely to involve genome editing to establish the cell-type specific carcinogenic effects of EOC risk variants.

Authors
Kar, SP; Berchuck, A; Gayther, SA; Goode, EL; Moysich, KB; Pearce, CL; Ramus, SJ; Schildkraut, JM; Sellers, TA; Pharoah, PDP
MLA Citation
Kar, SP, Berchuck, A, Gayther, SA, Goode, EL, Moysich, KB, Pearce, CL, Ramus, SJ, Schildkraut, JM, Sellers, TA, and Pharoah, PDP. "Common Genetic Variation and Susceptibility to Ovarian Cancer: Current Insights and Future Directions." Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology (June 14, 2017).
PMID
28615364
Source
epmc
Published In
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology
Publish Date
2017
DOI
10.1158/1055-9965.epi-17-0315

Cigarette smoking is associated with adverse survival among women with ovarian cancer: Results from a pooled analysis of 19 studies.

Cigarette smoking is associated with an increased risk of developing mucinous ovarian tumors but whether it is associated with ovarian cancer survival overall or for the different histotypes is unestablished. Furthermore, it is unknown whether the association between cigarette smoking and survival differs according to strata of ovarian cancer stage at diagnosis. In a large pooled analysis, we evaluated the association between various measures of cigarette smoking and survival among women with epithelial ovarian cancer. We obtained data from 19 case-control studies in the Ovarian Cancer Association Consortium (OCAC), including 9,114 women diagnosed with ovarian cancer. Cox regression models were used to estimate adjusted study-specific hazard ratios (HRs), which were combined into pooled hazard ratios (pHR) with corresponding 95% confidence intervals (CIs) under random effects models. Overall, 5,149 (57%) women died during a median follow-up period of 7.0 years. Among women diagnosed with ovarian cancer, both current (pHR = 1.17, 95% CI: 1.08-1.28) and former smokers (pHR = 1.10, 95% CI: 1.02-1.18) had worse survival compared with never smoking women. In histotype-stratified analyses, associations were observed for mucinous (current smoking: pHR = 1.91, 95% CI: 1.01-3.65) and serous histotypes (current smoking: pHR = 1.11, 95% CI: 1.00-1.23; former smoking: pHR = 1.12, 95% CI: 1.04-1.20). Further, our results suggested that current smoking has a greater impact on survival among women with localized than disseminated disease. The identification of cigarette smoking as a modifiable factor associated with survival has potential clinical importance as a focus area to improve ovarian cancer prognosis.

Authors
Praestegaard, C; Jensen, A; Jensen, SM; Nielsen, TSS; Webb, PM; Nagle, CM; DeFazio, A; Australian Ovarian Cancer Study Group, ; Høgdall, E; Rossing, MA; Doherty, JA; Wicklund, KG; Goodman, MT; Modugno, F; Moysich, K; Ness, RB; Edwards, R; Matsuo, K; Hosono, S; Goode, EL; Winham, SJ; Fridley, BL; Cramer, DW; Terry, KL; Schildkraut, JM; Berchuck, A; Bandera, EV; Paddock, LE; Massuger, LF; Wentzensen, N; Pharoah, P; Song, H; Whittemore, A; McGuire, V; Sieh, W; Rothstein, J; Anton-Culver, H et al.
MLA Citation
Praestegaard, C, Jensen, A, Jensen, SM, Nielsen, TSS, Webb, PM, Nagle, CM, DeFazio, A, Australian Ovarian Cancer Study Group, , Høgdall, E, Rossing, MA, Doherty, JA, Wicklund, KG, Goodman, MT, Modugno, F, Moysich, K, Ness, RB, Edwards, R, Matsuo, K, Hosono, S, Goode, EL, Winham, SJ, Fridley, BL, Cramer, DW, Terry, KL, Schildkraut, JM, Berchuck, A, Bandera, EV, Paddock, LE, Massuger, LF, Wentzensen, N, Pharoah, P, Song, H, Whittemore, A, McGuire, V, Sieh, W, Rothstein, J, and Anton-Culver, H et al. "Cigarette smoking is associated with adverse survival among women with ovarian cancer: Results from a pooled analysis of 19 studies." International journal of cancer 140.11 (June 2017): 2422-2435.
PMID
28063166
Source
epmc
Published In
International Journal of Cancer
Volume
140
Issue
11
Publish Date
2017
Start Page
2422
End Page
2435
DOI
10.1002/ijc.30600

Cost-effectiveness of ovarian cancer screening: An analysis of the UK Collaborative Trial of Ovarian Cancer Screening (UKCTOCS) from a US health system perspective.

Authors
Moss, H; Myers, E; Berchuck, A; Havrilesky, LJ
MLA Citation
Moss, H, Myers, E, Berchuck, A, and Havrilesky, LJ. "Cost-effectiveness of ovarian cancer screening: An analysis of the UK Collaborative Trial of Ovarian Cancer Screening (UKCTOCS) from a US health system perspective." May 20, 2017.
Source
wos-lite
Published In
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
Volume
35
Publish Date
2017
DOI
10.1200/JCO.2017.35.15_suppl.6608

Evaluating the repertoire of immune checkpoint markers expressed on peripheral and ascites CD8(+) T cells in ovarian cancer.

Authors
Gaillard, S; Dumbauld, C; Bilewski, A; Ehrisman, JA; Secord, AA; Havrilesky, LJ; Berchuck, A; Weinhold, K; Chan, C; Yi, J
MLA Citation
Gaillard, S, Dumbauld, C, Bilewski, A, Ehrisman, JA, Secord, AA, Havrilesky, LJ, Berchuck, A, Weinhold, K, Chan, C, and Yi, J. "Evaluating the repertoire of immune checkpoint markers expressed on peripheral and ascites CD8(+) T cells in ovarian cancer." May 20, 2017.
Source
wos-lite
Published In
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
Volume
35
Publish Date
2017
DOI
10.1200/JCO.2017.35.15_suppl.5571

History of hypertension, heart disease, and diabetes and ovarian cancer patient survival: evidence from the ovarian cancer association consortium.

Survival following ovarian cancer diagnosis is generally low; understanding factors related to prognosis could be important to optimize treatment. The role of previously diagnosed comorbidities and use of medications for those conditions in relation to prognosis for ovarian cancer patients has not been studied extensively, particularly according to histological subtype.Using pooled data from fifteen studies participating in the Ovarian Cancer Association Consortium, we examined the associations between history of hypertension, heart disease, diabetes, and medications taken for these conditions and overall survival (OS) and progression-free survival (PFS) among patients diagnosed with invasive epithelial ovarian carcinoma. We used Cox proportional hazards regression models adjusted for age and stage to estimate hazard ratios (HRs) and 95% confidence intervals (CIs) overall and within strata of histological subtypes.History of diabetes was associated with increased risk of mortality (n = 7,674; HR = 1.12; 95% CI = 1.01-1.25). No significant mortality associations were observed for hypertension (n = 6,482; HR = 0.95; 95% CI = 0.88-1.02) or heart disease (n = 4,252; HR = 1.05; 95% CI = 0.87-1.27). No association of these comorbidities was found with PFS in the overall study population. However, among patients with endometrioid tumors, hypertension was associated with lower risk of progression (n = 339, HR = 0.54; 95% CI = 0.35-0.84). Comorbidity was not associated with OS or PFS for any of the other histological subtypes. Ever use of beta blockers, oral antidiabetic medications, and insulin was associated with increased mortality, HR = 1.20; 95% CI = 1.03-1.40, HR = 1.28; 95% CI = 1.05-1.55, and HR = 1.63; 95% CI = 1.20-2.20, respectively. Ever use of diuretics was inversely associated with mortality, HR = 0.71; 95% CI = 0.53-0.94.Histories of hypertension, diabetes, and use of diuretics, beta blockers, insulin, and oral antidiabetic medications may influence the survival of ovarian cancer patients. Understanding mechanisms for these observations could provide insight regarding treatment.

Authors
Minlikeeva, AN; Freudenheim, JL; Cannioto, RA; Szender, JB; Eng, KH; Modugno, F; Ness, RB; LaMonte, MJ; Friel, G; Segal, BH; Odunsi, K; Mayor, P; Zsiros, E; Schmalfeldt, B; Klapdor, R; Dӧrk, T; Hillemanns, P; Kelemen, LE; Kӧbel, M; Steed, H; de Fazio, A; Australian Ovarian Cancer Study Group, ; Jordan, SJ; Nagle, CM; Risch, HA; Rossing, MA; Doherty, JA; Goodman, MT; Edwards, R; Matsuo, K; Mizuno, M; Karlan, BY; Kjær, SK; Høgdall, E; Jensen, A; Schildkraut, JM; Terry, KL; Cramer, DW; Bandera, EV; Paddock, LE; Kiemeney, LA; Massuger, LF; Kupryjanczyk, J; Berchuck, A; Chang-Claude, J; Diergaarde, B; Webb, PM; Moysich, KB; Ovarian Cancer Association Consortium,
MLA Citation
Minlikeeva, AN, Freudenheim, JL, Cannioto, RA, Szender, JB, Eng, KH, Modugno, F, Ness, RB, LaMonte, MJ, Friel, G, Segal, BH, Odunsi, K, Mayor, P, Zsiros, E, Schmalfeldt, B, Klapdor, R, Dӧrk, T, Hillemanns, P, Kelemen, LE, Kӧbel, M, Steed, H, de Fazio, A, Australian Ovarian Cancer Study Group, , Jordan, SJ, Nagle, CM, Risch, HA, Rossing, MA, Doherty, JA, Goodman, MT, Edwards, R, Matsuo, K, Mizuno, M, Karlan, BY, Kjær, SK, Høgdall, E, Jensen, A, Schildkraut, JM, Terry, KL, Cramer, DW, Bandera, EV, Paddock, LE, Kiemeney, LA, Massuger, LF, Kupryjanczyk, J, Berchuck, A, Chang-Claude, J, Diergaarde, B, Webb, PM, Moysich, KB, and Ovarian Cancer Association Consortium, . "History of hypertension, heart disease, and diabetes and ovarian cancer patient survival: evidence from the ovarian cancer association consortium." Cancer Causes & Control : Ccc 28.5 (May 2017): 469-486.
PMID
28293802
Source
epmc
Published In
Cancer Causes & Control : Ccc
Volume
28
Issue
5
Publish Date
2017
Start Page
469
End Page
486
DOI
10.1007/s10552-017-0867-1

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified nine new susceptibility loci for different EOC histotypes: six for serous EOC histotypes (3q28, 4q32.3, 8q21.11, 10q24.33, 18q11.2 and 22q12.1), two for mucinous EOC (3q22.3 and 9q31.1) and one for endometrioid EOC (5q12.3). We then performed meta-analysis on the results for high-grade serous ovarian cancer with the results from analysis of 31,448 BRCA1 and BRCA2 mutation carriers, including 3,887 mutation carriers with EOC. This identified three additional susceptibility loci at 2q13, 8q24.1 and 12q24.31. Integrated analyses of genes and regulatory biofeatures at each locus predicted candidate susceptibility genes, including OBFC1, a new candidate susceptibility gene for low-grade and borderline serous EOC.

Authors
Phelan, CM; Kuchenbaecker, KB; Tyrer, JP; Kar, SP; Lawrenson, K; Winham, SJ; Dennis, J; Pirie, A; Riggan, MJ; Chornokur, G; Earp, MA; Lyra, PC; Lee, JM; Coetzee, S; Beesley, J; McGuffog, L; Soucy, P; Dicks, E; Lee, A; Barrowdale, D; Lecarpentier, J; Leslie, G; Aalfs, CM; Aben, KKH; Adams, M; Adlard, J; Andrulis, IL; Anton-Culver, H; Antonenkova, N; AOCS study group, ; Aravantinos, G; Arnold, N; Arun, BK; Arver, B; Azzollini, J; Balmaña, J; Banerjee, SN; Barjhoux, L; Barkardottir, RB; Bean, Y; Beckmann, MW; Beeghly-Fadiel, A; Benitez, J; Bermisheva, M; Bernardini, MQ; Birrer, MJ; Bjorge, L; Black, A; Blankstein, K; Blok, MJ; Bodelon, C; Bogdanova, N; Bojesen, A; Bonanni, B; Borg, Å; Bradbury, AR; Brenton, JD; Brewer, C; Brinton, L; Broberg, P; Brooks-Wilson, A; Bruinsma, F; Brunet, J; Buecher, B; Butzow, R; Buys, SS; Caldes, T; Caligo, MA; Campbell, I; Cannioto, R; Carney, ME; Cescon, T; Chan, SB; Chang-Claude, J; Chanock, S; Chen, XQ; Chiew, Y-E; Chiquette, J; Chung, WK; Claes, KBM; Conner, T; Cook, LS; Cook, J; Cramer, DW; Cunningham, JM; D'Aloisio, AA; Daly, MB; Damiola, F; Damirovna, SD; Dansonka-Mieszkowska, A; Dao, F; Davidson, R; DeFazio, A; Delnatte, C; Doheny, KF; Diez, O; Ding, YC; Doherty, JA; Domchek, SM; Dorfling, CM; Dörk, T; Dossus, L; Duran, M; Dürst, M; Dworniczak, B; Eccles, D; Edwards, T; Eeles, R; Eilber, U; Ejlertsen, B; Ekici, AB; Ellis, S; Elvira, M; EMBRACE Study, ; Eng, KH; Engel, C; Evans, DG; Fasching, PA; Ferguson, S; Ferrer, SF; Flanagan, JM; Fogarty, ZC; Fortner, RT; Fostira, F; Foulkes, WD; Fountzilas, G; Fridley, BL; Friebel, TM; Friedman, E; Frost, D; Ganz, PA; Garber, J; García, MJ; Garcia-Barberan, V; Gehrig, A; GEMO Study Collaborators, ; Gentry-Maharaj, A; Gerdes, A-M; Giles, GG; Glasspool, R; Glendon, G; Godwin, AK; Goldgar, DE; Goranova, T; Gore, M; Greene, MH; Gronwald, J; Gruber, S; Hahnen, E; Haiman, CA; Håkansson, N; Hamann, U; Hansen, TVO; Harrington, PA; Harris, HR; Hauke, J; HEBON Study, ; Hein, A; Henderson, A; Hildebrandt, MAT; Hillemanns, P; Hodgson, S; Høgdall, CK; Høgdall, E; Hogervorst, FBL; Holland, H; Hooning, MJ; Hosking, K; Huang, R-Y; Hulick, PJ; Hung, J; Hunter, DJ; Huntsman, DG; Huzarski, T; Imyanitov, EN; Isaacs, C; Iversen, ES; Izatt, L; Izquierdo, A; Jakubowska, A; James, P; Janavicius, R; Jernetz, M; Jensen, A; Jensen, UB; John, EM; Johnatty, S; Jones, ME; Kannisto, P; Karlan, BY; Karnezis, A; Kast, K; KConFab Investigators, ; Kennedy, CJ; Khusnutdinova, E; Kiemeney, LA; Kiiski, JI; Kim, S-W; Kjaer, SK; Köbel, M; Kopperud, RK; Kruse, TA; Kupryjanczyk, J; Kwong, A; Laitman, Y; Lambrechts, D; Larrañaga, N; Larson, MC; Lazaro, C; Le, ND; Le Marchand, L; Lee, JW; Lele, SB; Leminen, A; Leroux, D; Lester, J; Lesueur, F; Levine, DA; Liang, D; Liebrich, C; Lilyquist, J; Lipworth, L; Lissowska, J; Lu, KH; Lubinński, J; Luccarini, C; Lundvall, L; Mai, PL; Mendoza-Fandiño, G; Manoukian, S; Massuger, LFAG; May, T; Mazoyer, S; McAlpine, JN; McGuire, V; McLaughlin, JR; McNeish, I; Meijers-Heijboer, H; Meindl, A; Menon, U; Mensenkamp, AR; Merritt, MA; Milne, RL; Mitchell, G; Modugno, F; Moes-Sosnowska, J; Moffitt, M; Montagna, M; Moysich, KB; Mulligan, AM; Musinsky, J; Nathanson, KL; Nedergaard, L; Ness, RB; Neuhausen, SL; Nevanlinna, H; Niederacher, D; Nussbaum, RL; Odunsi, K; Olah, E; Olopade, OI; Olsson, H; Olswold, C; O'Malley, DM; Ong, K-R; Onland-Moret, NC; OPAL study group, ; Orr, N; Orsulic, S; Osorio, A; Palli, D; Papi, L; Park-Simon, T-W; Paul, J; Pearce, CL; Pedersen, IS; Peeters, PHM; Peissel, B; Peixoto, A; Pejovic, T; Pelttari, LM; Permuth, JB; Peterlongo, P; Pezzani, L; Pfeiler, G; Phillips, K-A; Piedmonte, M; Pike, MC; Piskorz, AM; Poblete, SR; Pocza, T; Poole, EM; Poppe, B; Porteous, ME; Prieur, F; Prokofyeva, D; Pugh, E; Pujana, MA; Pujol, P; Radice, P; Rantala, J; Rappaport-Fuerhauser, C; Rennert, G; Rhiem, K; Rice, P; Richardson, A; Robson, M; Rodriguez, GC; Rodríguez-Antona, C; Romm, J; Rookus, MA; Rossing, MA; Rothstein, JH; Rudolph, A; Runnebaum, IB; Salvesen, HB; Sandler, DP; Schoemaker, MJ; Senter, L; Setiawan, VW; Severi, G; Sharma, P; Shelford, T; Siddiqui, N; Side, LE; Sieh, W; Singer, CF; Sobol, H; Song, H; Southey, MC; Spurdle, AB; Stadler, Z; Steinemann, D; Stoppa-Lyonnet, D; Sucheston-Campbell, LE; Sukiennicki, G; Sutphen, R; Sutter, C; Swerdlow, AJ; Szabo, CI; Szafron, L; Tan, YY; Taylor, JA; Tea, M-K; Teixeira, MR; Teo, S-H; Terry, KL; Thompson, PJ; Thomsen, LCV; Thull, DL; Tihomirova, L; Tinker, AV; Tischkowitz, M; Tognazzo, S; Toland, AE; Tone, A; Trabert, B; Travis, RC; Trichopoulou, A; Tung, N; Tworoger, SS; van Altena, AM; Van Den Berg, D; van der Hout, AH; van der Luijt, RB; Van Heetvelde, M; Van Nieuwenhuysen, E; van Rensburg, EJ; Vanderstichele, A; Varon-Mateeva, R; Vega, A; Edwards, DV; Vergote, I; Vierkant, RA; Vijai, J; Vratimos, A; Walker, L; Walsh, C; Wand, D; Wang-Gohrke, S; Wappenschmidt, B; Webb, PM; Weinberg, CR; Weitzel, JN; Wentzensen, N; Whittemore, AS; Wijnen, JT; Wilkens, LR; Wolk, A; Woo, M; Wu, X; Wu, AH; Yang, H; Yannoukakos, D; Ziogas, A; Zorn, KK; Narod, SA; Easton, DF; Amos, CI; Schildkraut, JM; Ramus, SJ; Ottini, L; Goodman, MT; Park, SK; Kelemen, LE; Risch, HA; Thomassen, M; Offit, K; Simard, J; Schmutzler, RK; Hazelett, D; Monteiro, AN; Couch, FJ; Berchuck, A; Chenevix-Trench, G; Goode, EL; Sellers, TA; Gayther, SA; Antoniou, AC; Pharoah, PDP
MLA Citation
Phelan, CM, Kuchenbaecker, KB, Tyrer, JP, Kar, SP, Lawrenson, K, Winham, SJ, Dennis, J, Pirie, A, Riggan, MJ, Chornokur, G, Earp, MA, Lyra, PC, Lee, JM, Coetzee, S, Beesley, J, McGuffog, L, Soucy, P, Dicks, E, Lee, A, Barrowdale, D, Lecarpentier, J, Leslie, G, Aalfs, CM, Aben, KKH, Adams, M, Adlard, J, Andrulis, IL, Anton-Culver, H, Antonenkova, N, AOCS study group, , Aravantinos, G, Arnold, N, Arun, BK, Arver, B, Azzollini, J, Balmaña, J, Banerjee, SN, Barjhoux, L, Barkardottir, RB, Bean, Y, Beckmann, MW, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Bernardini, MQ, Birrer, MJ, Bjorge, L, Black, A, Blankstein, K, Blok, MJ, Bodelon, C, Bogdanova, N, Bojesen, A, Bonanni, B, Borg, Å, Bradbury, AR, Brenton, JD, Brewer, C, Brinton, L, Broberg, P, Brooks-Wilson, A, Bruinsma, F, Brunet, J, Buecher, B, Butzow, R, Buys, SS, Caldes, T, Caligo, MA, Campbell, I, Cannioto, R, Carney, ME, Cescon, T, Chan, SB, Chang-Claude, J, Chanock, S, Chen, XQ, Chiew, Y-E, Chiquette, J, Chung, WK, Claes, KBM, Conner, T, Cook, LS, Cook, J, Cramer, DW, Cunningham, JM, D'Aloisio, AA, Daly, MB, Damiola, F, Damirovna, SD, Dansonka-Mieszkowska, A, Dao, F, Davidson, R, DeFazio, A, Delnatte, C, Doheny, KF, Diez, O, Ding, YC, Doherty, JA, Domchek, SM, Dorfling, CM, Dörk, T, Dossus, L, Duran, M, Dürst, M, Dworniczak, B, Eccles, D, Edwards, T, Eeles, R, Eilber, U, Ejlertsen, B, Ekici, AB, Ellis, S, Elvira, M, EMBRACE Study, , Eng, KH, Engel, C, Evans, DG, Fasching, PA, Ferguson, S, Ferrer, SF, Flanagan, JM, Fogarty, ZC, Fortner, RT, Fostira, F, Foulkes, WD, Fountzilas, G, Fridley, BL, Friebel, TM, Friedman, E, Frost, D, Ganz, PA, Garber, J, García, MJ, Garcia-Barberan, V, Gehrig, A, GEMO Study Collaborators, , Gentry-Maharaj, A, Gerdes, A-M, Giles, GG, Glasspool, R, Glendon, G, Godwin, AK, Goldgar, DE, Goranova, T, Gore, M, Greene, MH, Gronwald, J, Gruber, S, Hahnen, E, Haiman, CA, Håkansson, N, Hamann, U, Hansen, TVO, Harrington, PA, Harris, HR, Hauke, J, HEBON Study, , Hein, A, Henderson, A, Hildebrandt, MAT, Hillemanns, P, Hodgson, S, Høgdall, CK, Høgdall, E, Hogervorst, FBL, Holland, H, Hooning, MJ, Hosking, K, Huang, R-Y, Hulick, PJ, Hung, J, Hunter, DJ, Huntsman, DG, Huzarski, T, Imyanitov, EN, Isaacs, C, Iversen, ES, Izatt, L, Izquierdo, A, Jakubowska, A, James, P, Janavicius, R, Jernetz, M, Jensen, A, Jensen, UB, John, EM, Johnatty, S, Jones, ME, Kannisto, P, Karlan, BY, Karnezis, A, Kast, K, KConFab Investigators, , Kennedy, CJ, Khusnutdinova, E, Kiemeney, LA, Kiiski, JI, Kim, S-W, Kjaer, SK, Köbel, M, Kopperud, RK, Kruse, TA, Kupryjanczyk, J, Kwong, A, Laitman, Y, Lambrechts, D, Larrañaga, N, Larson, MC, Lazaro, C, Le, ND, Le Marchand, L, Lee, JW, Lele, SB, Leminen, A, Leroux, D, Lester, J, Lesueur, F, Levine, DA, Liang, D, Liebrich, C, Lilyquist, J, Lipworth, L, Lissowska, J, Lu, KH, Lubinński, J, Luccarini, C, Lundvall, L, Mai, PL, Mendoza-Fandiño, G, Manoukian, S, Massuger, LFAG, May, T, Mazoyer, S, McAlpine, JN, McGuire, V, McLaughlin, JR, McNeish, I, Meijers-Heijboer, H, Meindl, A, Menon, U, Mensenkamp, AR, Merritt, MA, Milne, RL, Mitchell, G, Modugno, F, Moes-Sosnowska, J, Moffitt, M, Montagna, M, Moysich, KB, Mulligan, AM, Musinsky, J, Nathanson, KL, Nedergaard, L, Ness, RB, Neuhausen, SL, Nevanlinna, H, Niederacher, D, Nussbaum, RL, Odunsi, K, Olah, E, Olopade, OI, Olsson, H, Olswold, C, O'Malley, DM, Ong, K-R, Onland-Moret, NC, OPAL study group, , Orr, N, Orsulic, S, Osorio, A, Palli, D, Papi, L, Park-Simon, T-W, Paul, J, Pearce, CL, Pedersen, IS, Peeters, PHM, Peissel, B, Peixoto, A, Pejovic, T, Pelttari, LM, Permuth, JB, Peterlongo, P, Pezzani, L, Pfeiler, G, Phillips, K-A, Piedmonte, M, Pike, MC, Piskorz, AM, Poblete, SR, Pocza, T, Poole, EM, Poppe, B, Porteous, ME, Prieur, F, Prokofyeva, D, Pugh, E, Pujana, MA, Pujol, P, Radice, P, Rantala, J, Rappaport-Fuerhauser, C, Rennert, G, Rhiem, K, Rice, P, Richardson, A, Robson, M, Rodriguez, GC, Rodríguez-Antona, C, Romm, J, Rookus, MA, Rossing, MA, Rothstein, JH, Rudolph, A, Runnebaum, IB, Salvesen, HB, Sandler, DP, Schoemaker, MJ, Senter, L, Setiawan, VW, Severi, G, Sharma, P, Shelford, T, Siddiqui, N, Side, LE, Sieh, W, Singer, CF, Sobol, H, Song, H, Southey, MC, Spurdle, AB, Stadler, Z, Steinemann, D, Stoppa-Lyonnet, D, Sucheston-Campbell, LE, Sukiennicki, G, Sutphen, R, Sutter, C, Swerdlow, AJ, Szabo, CI, Szafron, L, Tan, YY, Taylor, JA, Tea, M-K, Teixeira, MR, Teo, S-H, Terry, KL, Thompson, PJ, Thomsen, LCV, Thull, DL, Tihomirova, L, Tinker, AV, Tischkowitz, M, Tognazzo, S, Toland, AE, Tone, A, Trabert, B, Travis, RC, Trichopoulou, A, Tung, N, Tworoger, SS, van Altena, AM, Van Den Berg, D, van der Hout, AH, van der Luijt, RB, Van Heetvelde, M, Van Nieuwenhuysen, E, van Rensburg, EJ, Vanderstichele, A, Varon-Mateeva, R, Vega, A, Edwards, DV, Vergote, I, Vierkant, RA, Vijai, J, Vratimos, A, Walker, L, Walsh, C, Wand, D, Wang-Gohrke, S, Wappenschmidt, B, Webb, PM, Weinberg, CR, Weitzel, JN, Wentzensen, N, Whittemore, AS, Wijnen, JT, Wilkens, LR, Wolk, A, Woo, M, Wu, X, Wu, AH, Yang, H, Yannoukakos, D, Ziogas, A, Zorn, KK, Narod, SA, Easton, DF, Amos, CI, Schildkraut, JM, Ramus, SJ, Ottini, L, Goodman, MT, Park, SK, Kelemen, LE, Risch, HA, Thomassen, M, Offit, K, Simard, J, Schmutzler, RK, Hazelett, D, Monteiro, AN, Couch, FJ, Berchuck, A, Chenevix-Trench, G, Goode, EL, Sellers, TA, Gayther, SA, Antoniou, AC, and Pharoah, PDP. "Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer." Nature Genetics 49.5 (May 2017): 680-691.
PMID
28346442
Source
epmc
Published In
Nature Genetics
Volume
49
Issue
5
Publish Date
2017
Start Page
680
End Page
691
DOI
10.1038/ng.3826

Is There a Role for Ovarian Cancer Screening in High-Risk Women?

Authors
Berchuck, A; Havrilesky, LJ; Kauff, ND
MLA Citation
Berchuck, A, Havrilesky, LJ, and Kauff, ND. "Is There a Role for Ovarian Cancer Screening in High-Risk Women?." Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology 35.13 (May 2017): 1384-1386.
PMID
28447911
Source
epmc
Published In
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
Volume
35
Issue
13
Publish Date
2017
Start Page
1384
End Page
1386
DOI
10.1200/jco.2016.72.0045

Use of common analgesic medications and ovarian cancer survival: results from a pooled analysis in the Ovarian Cancer Association Consortium.

Nonsteroidal anti-inflammatory drugs (NSAIDs) have been associated with improved survival in some cancers, but evidence for ovarian cancer is limited.Pooling individual-level data from 12 Ovarian Cancer Association Consortium studies, we evaluated the association between self-reported, pre-diagnosis use of common analgesics and overall/progression-free/disease-specific survival among 7694 women with invasive epithelial ovarian cancer (4273 deaths).Regular analgesic use (at least once per week) was not associated with overall survival (pooled hazard ratios, pHRs (95% confidence intervals): aspirin 0.96 (0.88-1.04); non-aspirin NSAIDs 0.97 (0.89-1.05); acetaminophen 1.01 (0.93-1.10)), nor with progression-free/disease-specific survival. There was however a survival advantage for users of any NSAIDs in studies clearly defining non-use as less than once per week (pHR=0.89 (0.82-0.98)).Although this study did not show a clear association between analgesic use and ovarian cancer survival, further investigation with clearer definitions of use and information about post-diagnosis use is warranted.

Authors
Dixon, SC; Nagle, CM; Wentzensen, N; Trabert, B; Beeghly-Fadiel, A; Schildkraut, JM; Moysich, KB; deFazio, A; Australian Ovarian Cancer Study Group, ; Risch, HA; Rossing, MA; Doherty, JA; Wicklund, KG; Goodman, MT; Modugno, F; Ness, RB; Edwards, RP; Jensen, A; Kjær, SK; Høgdall, E; Berchuck, A; Cramer, DW; Terry, KL; Poole, EM; Bandera, EV; Paddock, LE; Anton-Culver, H; Ziogas, A; Menon, U; Gayther, SA; Ramus, SJ; Gentry-Maharaj, A; Pearce, CL; Wu, AH; Pike, MC; Webb, PM
MLA Citation
Dixon, SC, Nagle, CM, Wentzensen, N, Trabert, B, Beeghly-Fadiel, A, Schildkraut, JM, Moysich, KB, deFazio, A, Australian Ovarian Cancer Study Group, , Risch, HA, Rossing, MA, Doherty, JA, Wicklund, KG, Goodman, MT, Modugno, F, Ness, RB, Edwards, RP, Jensen, A, Kjær, SK, Høgdall, E, Berchuck, A, Cramer, DW, Terry, KL, Poole, EM, Bandera, EV, Paddock, LE, Anton-Culver, H, Ziogas, A, Menon, U, Gayther, SA, Ramus, SJ, Gentry-Maharaj, A, Pearce, CL, Wu, AH, Pike, MC, and Webb, PM. "Use of common analgesic medications and ovarian cancer survival: results from a pooled analysis in the Ovarian Cancer Association Consortium." British Journal of Cancer 116.9 (April 2017): 1223-1228. (Letter)
PMID
28350790
Source
epmc
Published In
British Journal of Cancer
Volume
116
Issue
9
Publish Date
2017
Start Page
1223
End Page
1228
DOI
10.1038/bjc.2017.68

Bromodomain protein 4 discriminates tissue-specific super-enhancers containing disease-specific susceptibility loci in prostate and breast cancer.

Epigenetic information can be used to identify clinically relevant genomic variants single nucleotide polymorphisms (SNPs) of functional importance in cancer development. Super-enhancers are cell-specific DNA elements, acting to determine tissue or cell identity and driving tumor progression. Although previous approaches have been tried to explain risk associated with SNPs in regulatory DNA elements, so far epigenetic readers such as bromodomain containing protein 4 (BRD4) and super-enhancers have not been used to annotate SNPs. In prostate cancer (PC), androgen receptor (AR) binding sites to chromatin have been used to inform functional annotations of SNPs.Here we establish criteria for enhancer mapping which are applicable to other diseases and traits to achieve the optimal tissue-specific enrichment of PC risk SNPs. We used stratified Q-Q plots and Fisher test to assess the differential enrichment of SNPs mapping to specific categories of enhancers. We find that BRD4 is the key discriminant of tissue-specific enhancers, showing that it is more powerful than AR binding information to capture PC specific risk loci, and can be used with similar effect in breast cancer (BC) and applied to other diseases such as schizophrenia.This is the first study to evaluate the enrichment of epigenetic readers in genome-wide associations studies for SNPs within enhancers, and provides a powerful tool for enriching and prioritizing PC and BC genetic risk loci. Our study represents a proof of principle applicable to other diseases and traits that can be used to redefine molecular mechanisms of human phenotypic variation.

Authors
Zuber, V; Bettella, F; Witoelar, A; PRACTICAL Consortium, ; CRUK GWAS, ; BCAC Consortium, ; TRICL Consortium, ; Andreassen, OA; Mills, IG; Urbanucci, A
MLA Citation
Zuber, V, Bettella, F, Witoelar, A, PRACTICAL Consortium, , CRUK GWAS, , BCAC Consortium, , TRICL Consortium, , Andreassen, OA, Mills, IG, and Urbanucci, A. "Bromodomain protein 4 discriminates tissue-specific super-enhancers containing disease-specific susceptibility loci in prostate and breast cancer." Bmc Genomics 18.1 (March 31, 2017): 270-null.
PMID
28359301
Source
epmc
Published In
Bmc Genomics
Volume
18
Issue
1
Publish Date
2017
Start Page
270
DOI
10.1186/s12864-017-3620-y

No Evidence That Genetic Variation in the Myeloid-Derived Suppressor Cell Pathway Influences Ovarian Cancer Survival.

Background: The precise mechanism by which the immune system is adversely affected in cancer patients remains poorly understood, but the accumulation of immunosuppressive/protumorigenic myeloid-derived suppressor cells (MDSCs) is thought to be a prominent mechanism contributing to immunologic tolerance of malignant cells in epithelial ovarian cancer (EOC). To this end, we hypothesized genetic variation in MDSC pathway genes would be associated with survival after EOC diagnoses.Methods: We measured the hazard of death due to EOC within 10 years of diagnosis, overall and by invasive subtype, attributable to SNPs in 24 genes relevant in the MDSC pathway in 10,751 women diagnosed with invasive EOC. Versatile Gene-based Association Study and the admixture likelihood method were used to test gene and pathway associations with survival.Results: We did not identify individual SNPs that were significantly associated with survival after correction for multiple testing (P < 3.5 × 10-5), nor did we identify significant associations between the MDSC pathway overall, or the 24 individual genes and EOC survival.Conclusions: In this well-powered analysis, we observed no evidence that inherited variations in MDSC-associated SNPs, individual genes, or the collective genetic pathway contributed to EOC survival outcomes.Impact: Common inherited variation in genes relevant to MDSCs was not associated with survival in women diagnosed with invasive EOC. Cancer Epidemiol Biomarkers Prev; 26(3); 420-4. ©2016 AACR.

Authors
Sucheston-Campbell, LE; Cannioto, R; Clay, AI; Etter, JL; Eng, KH; Liu, S; Battaglia, S; Hu, Q; Szender, JB; Minlikeeva, A; Joseph, JM; Mayor, P; Abrams, SI; Segal, BH; Wallace, PK; Soh, KT; Zsiros, E; Anton-Culver, H; Bandera, EV; Beckmann, MW; Berchuck, A; Bjorge, L; Bruegl, A; Campbell, IG; Campbell, SP; Chenevix-Trench, G; Cramer, DW; Dansonka-Mieszkowska, A; Dao, F; Diergaarde, B; Doerk, T; Doherty, JA; du Bois, A; Eccles, D; Engelholm, SA; Fasching, PA; Gayther, SA; Gentry-Maharaj, A; Glasspool, RM; Goodman, MT; Gronwald, J; Harter, P; Hein, A; Heitz, F; Hillemmanns, P; Høgdall, C; Høgdall, EVS; Huzarski, T; Jensen, A; Johnatty, SE; Jung, A; Karlan, BY; Klapdor, R; Kluz, T; Konopka, B; Kjær, SK; Kupryjanczyk, J; Lambrechts, D; Lester, J; Lubiński, J; Levine, DA; Lundvall, L; McGuire, V; McNeish, IA; Menon, U; Modugno, F; Ness, RB; Orsulic, S; Paul, J; Pearce, CL; Pejovic, T; Pharoah, P; Ramus, SJ; Rothstein, J; Rossing, MA; Rübner, M; Schildkraut, JM; Schmalfeldt, B; Schwaab, I; Siddiqui, N; Sieh, W; Sobiczewski, P; Song, H; Terry, KL; Van Nieuwenhuysen, E; Vanderstichele, A; Vergote, I; Walsh, CS; Webb, PM; Wentzensen, N; Whittemore, AS; Wu, AH; Ziogas, A; Odunsi, K; Chang-Claude, J; Goode, EL; Moysich, KB; Australian Ovarian Cancer Study,
MLA Citation
Sucheston-Campbell, LE, Cannioto, R, Clay, AI, Etter, JL, Eng, KH, Liu, S, Battaglia, S, Hu, Q, Szender, JB, Minlikeeva, A, Joseph, JM, Mayor, P, Abrams, SI, Segal, BH, Wallace, PK, Soh, KT, Zsiros, E, Anton-Culver, H, Bandera, EV, Beckmann, MW, Berchuck, A, Bjorge, L, Bruegl, A, Campbell, IG, Campbell, SP, Chenevix-Trench, G, Cramer, DW, Dansonka-Mieszkowska, A, Dao, F, Diergaarde, B, Doerk, T, Doherty, JA, du Bois, A, Eccles, D, Engelholm, SA, Fasching, PA, Gayther, SA, Gentry-Maharaj, A, Glasspool, RM, Goodman, MT, Gronwald, J, Harter, P, Hein, A, Heitz, F, Hillemmanns, P, Høgdall, C, Høgdall, EVS, Huzarski, T, Jensen, A, Johnatty, SE, Jung, A, Karlan, BY, Klapdor, R, Kluz, T, Konopka, B, Kjær, SK, Kupryjanczyk, J, Lambrechts, D, Lester, J, Lubiński, J, Levine, DA, Lundvall, L, McGuire, V, McNeish, IA, Menon, U, Modugno, F, Ness, RB, Orsulic, S, Paul, J, Pearce, CL, Pejovic, T, Pharoah, P, Ramus, SJ, Rothstein, J, Rossing, MA, Rübner, M, Schildkraut, JM, Schmalfeldt, B, Schwaab, I, Siddiqui, N, Sieh, W, Sobiczewski, P, Song, H, Terry, KL, Van Nieuwenhuysen, E, Vanderstichele, A, Vergote, I, Walsh, CS, Webb, PM, Wentzensen, N, Whittemore, AS, Wu, AH, Ziogas, A, Odunsi, K, Chang-Claude, J, Goode, EL, Moysich, KB, and Australian Ovarian Cancer Study, . "No Evidence That Genetic Variation in the Myeloid-Derived Suppressor Cell Pathway Influences Ovarian Cancer Survival." Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology 26.3 (March 2017): 420-424.
PMID
27677730
Source
epmc
Published In
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology
Volume
26
Issue
3
Publish Date
2017
Start Page
420
End Page
424
DOI
10.1158/1055-9965.EPI-16-0631

Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci.

Genome-wide association studies (GWAS) have identified 18 loci associated with serous ovarian cancer (SOC) susceptibility but the biological mechanisms driving these findings remain poorly characterised. Germline cancer risk loci may be enriched for target genes of transcription factors (TFs) critical to somatic tumorigenesis.All 615 TF-target sets from the Molecular Signatures Database were evaluated using gene set enrichment analysis (GSEA) and three GWAS for SOC risk: discovery (2196 cases/4396 controls), replication (7035 cases/21 693 controls; independent from discovery), and combined (9627 cases/30 845 controls; including additional individuals).The PAX8-target gene set was ranked 1/615 in the discovery (PGSEA<0.001; FDR=0.21), 7/615 in the replication (PGSEA=0.004; FDR=0.37), and 1/615 in the combined (PGSEA<0.001; FDR=0.21) studies. Adding other genes reported to interact with PAX8 in the literature to the PAX8-target set and applying an alternative to GSEA, interval enrichment, further confirmed this association (P=0.006). Fifteen of the 157 genes from this expanded PAX8 pathway were near eight loci associated with SOC risk at P<10-5 (including six with P<5 × 10-8). The pathway was also associated with differential gene expression after shRNA-mediated silencing of PAX8 in HeyA8 (PGSEA=0.025) and IGROV1 (PGSEA=0.004) SOC cells and several PAX8 targets near SOC risk loci demonstrated in vitro transcriptomic perturbation.Putative PAX8 target genes are enriched for common SOC risk variants. This finding from our agnostic evaluation is of particular interest given that PAX8 is well-established as a specific marker for the cell of origin of SOC.

Authors
Kar, SP; Adler, E; Tyrer, J; Hazelett, D; Anton-Culver, H; Bandera, EV; Beckmann, MW; Berchuck, A; Bogdanova, N; Brinton, L; Butzow, R; Campbell, I; Carty, K; Chang-Claude, J; Cook, LS; Cramer, DW; Cunningham, JM; Dansonka-Mieszkowska, A; Doherty, JA; Dörk, T; Dürst, M; Eccles, D; Fasching, PA; Flanagan, J; Gentry-Maharaj, A; Glasspool, R; Goode, EL; Goodman, MT; Gronwald, J; Heitz, F; Hildebrandt, MAT; Høgdall, E; Høgdall, CK; Huntsman, DG; Jensen, A; Karlan, BY; Kelemen, LE; Kiemeney, LA; Kjaer, SK; Kupryjanczyk, J; Lambrechts, D; Levine, DA; Li, Q; Lissowska, J; Lu, KH; Lubiński, J; Massuger, LFAG; McGuire, V; McNeish, I; Menon, U; Modugno, F; Monteiro, AN; Moysich, KB; Ness, RB; Nevanlinna, H; Paul, J; Pearce, CL; Pejovic, T; Permuth, JB; Phelan, C; Pike, MC; Poole, EM; Ramus, SJ; Risch, HA; Rossing, MA; Salvesen, HB; Schildkraut, JM; Sellers, TA; Sherman, M; Siddiqui, N; Sieh, W; Song, H; Southey, M; Terry, KL; Tworoger, SS; Walsh, C; Wentzensen, N; Whittemore, AS; Wu, AH; Yang, H; Zheng, W; Ziogas, A; Freedman, ML; Gayther, SA; Pharoah, PDP; Lawrenson, K
MLA Citation
Kar, SP, Adler, E, Tyrer, J, Hazelett, D, Anton-Culver, H, Bandera, EV, Beckmann, MW, Berchuck, A, Bogdanova, N, Brinton, L, Butzow, R, Campbell, I, Carty, K, Chang-Claude, J, Cook, LS, Cramer, DW, Cunningham, JM, Dansonka-Mieszkowska, A, Doherty, JA, Dörk, T, Dürst, M, Eccles, D, Fasching, PA, Flanagan, J, Gentry-Maharaj, A, Glasspool, R, Goode, EL, Goodman, MT, Gronwald, J, Heitz, F, Hildebrandt, MAT, Høgdall, E, Høgdall, CK, Huntsman, DG, Jensen, A, Karlan, BY, Kelemen, LE, Kiemeney, LA, Kjaer, SK, Kupryjanczyk, J, Lambrechts, D, Levine, DA, Li, Q, Lissowska, J, Lu, KH, Lubiński, J, Massuger, LFAG, McGuire, V, McNeish, I, Menon, U, Modugno, F, Monteiro, AN, Moysich, KB, Ness, RB, Nevanlinna, H, Paul, J, Pearce, CL, Pejovic, T, Permuth, JB, Phelan, C, Pike, MC, Poole, EM, Ramus, SJ, Risch, HA, Rossing, MA, Salvesen, HB, Schildkraut, JM, Sellers, TA, Sherman, M, Siddiqui, N, Sieh, W, Song, H, Southey, M, Terry, KL, Tworoger, SS, Walsh, C, Wentzensen, N, Whittemore, AS, Wu, AH, Yang, H, Zheng, W, Ziogas, A, Freedman, ML, Gayther, SA, Pharoah, PDP, and Lawrenson, K. "Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci." British Journal of Cancer 116.4 (February 2017): 524-535.
PMID
28103614
Source
epmc
Published In
British Journal of Cancer
Volume
116
Issue
4
Publish Date
2017
Start Page
524
End Page
535
DOI
10.1038/bjc.2016.426

The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers.

Common cancers develop through a multistep process often including inherited susceptibility. Collaboration among multiple institutions, and funding from multiple sources, has allowed the development of an inexpensive genotyping microarray, the OncoArray. The array includes a genome-wide backbone, comprising 230,000 SNPs tagging most common genetic variants, together with dense mapping of known susceptibility regions, rare variants from sequencing experiments, pharmacogenetic markers, and cancer-related traits.The OncoArray can be genotyped using a novel technology developed by Illumina to facilitate efficient genotyping. The consortium developed standard approaches for selecting SNPs for study, for quality control of markers, and for ancestry analysis. The array was genotyped at selected sites and with prespecified replicate samples to permit evaluation of genotyping accuracy among centers and by ethnic background.The OncoArray consortium genotyped 447,705 samples. A total of 494,763 SNPs passed quality control steps with a sample success rate of 97% of the samples. Participating sites performed ancestry analysis using a common set of markers and a scoring algorithm based on principal components analysis.Results from these analyses will enable researchers to identify new susceptibility loci, perform fine-mapping of new or known loci associated with either single or multiple cancers, assess the degree of overlap in cancer causation and pleiotropic effects of loci that have been identified for disease-specific risk, and jointly model genetic, environmental, and lifestyle-related exposures.Ongoing analyses will shed light on etiology and risk assessment for many types of cancer. Cancer Epidemiol Biomarkers Prev; 26(1); 126-35. ©2016 AACR.

Authors
Amos, CI; Dennis, J; Wang, Z; Byun, J; Schumacher, FR; Gayther, SA; Casey, G; Hunter, DJ; Sellers, TA; Gruber, SB; Dunning, AM; Michailidou, K; Fachal, L; Doheny, K; Spurdle, AB; Li, Y; Xiao, X; Romm, J; Pugh, E; Coetzee, GA; Hazelett, DJ; Bojesen, SE; Caga-Anan, C; Haiman, CA; Kamal, A; Luccarini, C; Tessier, D; Vincent, D; Bacot, F; Van Den Berg, DJ; Nelson, S; Demetriades, S; Goldgar, DE; Couch, FJ; Forman, JL; Giles, GG; Conti, DV; Bickeböller, H; Risch, A; Waldenberger, M; Brüske-Hohlfeld, I; Hicks, BD; Ling, H; McGuffog, L; Lee, A; Kuchenbaecker, K; Soucy, P; Manz, J; Cunningham, JM; Butterbach, K; Kote-Jarai, Z; Kraft, P; FitzGerald, L; Lindström, S; Adams, M; McKay, JD; Phelan, CM; Benlloch, S; Kelemen, LE; Brennan, P; Riggan, M; O'Mara, TA; Shen, H; Shi, Y; Thompson, DJ; Goodman, MT; Nielsen, SF; Berchuck, A; Laboissiere, S; Schmit, SL; Shelford, T; Edlund, CK; Taylor, JA; Field, JK; Park, SK; Offit, K; Thomassen, M; Schmutzler, R; Ottini, L; Hung, RJ; Marchini, J; Amin Al Olama, A; Peters, U; Eeles, RA; Seldin, MF; Gillanders, E; Seminara, D; Antoniou, AC; Pharoah, PDP; Chenevix-Trench, G; Chanock, SJ; Simard, J; Easton, DF
MLA Citation
Amos, CI, Dennis, J, Wang, Z, Byun, J, Schumacher, FR, Gayther, SA, Casey, G, Hunter, DJ, Sellers, TA, Gruber, SB, Dunning, AM, Michailidou, K, Fachal, L, Doheny, K, Spurdle, AB, Li, Y, Xiao, X, Romm, J, Pugh, E, Coetzee, GA, Hazelett, DJ, Bojesen, SE, Caga-Anan, C, Haiman, CA, Kamal, A, Luccarini, C, Tessier, D, Vincent, D, Bacot, F, Van Den Berg, DJ, Nelson, S, Demetriades, S, Goldgar, DE, Couch, FJ, Forman, JL, Giles, GG, Conti, DV, Bickeböller, H, Risch, A, Waldenberger, M, Brüske-Hohlfeld, I, Hicks, BD, Ling, H, McGuffog, L, Lee, A, Kuchenbaecker, K, Soucy, P, Manz, J, Cunningham, JM, Butterbach, K, Kote-Jarai, Z, Kraft, P, FitzGerald, L, Lindström, S, Adams, M, McKay, JD, Phelan, CM, Benlloch, S, Kelemen, LE, Brennan, P, Riggan, M, O'Mara, TA, Shen, H, Shi, Y, Thompson, DJ, Goodman, MT, Nielsen, SF, Berchuck, A, Laboissiere, S, Schmit, SL, Shelford, T, Edlund, CK, Taylor, JA, Field, JK, Park, SK, Offit, K, Thomassen, M, Schmutzler, R, Ottini, L, Hung, RJ, Marchini, J, Amin Al Olama, A, Peters, U, Eeles, RA, Seldin, MF, Gillanders, E, Seminara, D, Antoniou, AC, Pharoah, PDP, Chenevix-Trench, G, Chanock, SJ, Simard, J, and Easton, DF. "The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers." Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology 26.1 (January 2017): 126-135. (Review)
PMID
27697780
Source
epmc
Published In
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology
Volume
26
Issue
1
Publish Date
2017
Start Page
126
End Page
135
DOI
10.1158/1055-9965.EPI-16-0106

Pelvic Inflammatory Disease and the Risk of Ovarian Cancer and Borderline Ovarian Tumors: A Pooled Analysis of 13 Case-Control Studies.

Inflammation has been implicated in ovarian carcinogenesis. However, studies investigating the association between pelvic inflammatory disease (PID) and ovarian cancer risk are few and inconsistent. We investigated the association between PID and the risk of epithelial ovarian cancer according to tumor behavior and histotype. We pooled data from 13 case-control studies, conducted between 1989 and 2009, from the Ovarian Cancer Association Consortium (OCAC), including 9,162 women with ovarian cancers, 2,354 women with borderline tumors, and 14,736 control participants. Study-specific odds ratios were estimated and subsequently combined into a pooled odds ratio using a random-effects model. A history of PID was associated with an increased risk of borderline tumors (pooled odds ratio (pOR) = 1.32, 95% confidence interval (CI): 1.10, 1.58). Women with at least 2 episodes of PID had a 2-fold increased risk of borderline tumors (pOR = 2.14, 95% CI: 1.08, 4.24). No association was observed between PID and ovarian cancer risk overall (pOR = 0.99, 95% CI: 0.83, 1.19); however, a statistically nonsignificantly increased risk of low-grade serous tumors (pOR = 1.48, 95% CI: 0.92, 2.38) was noted. In conclusion, PID was associated with an increased risk of borderline ovarian tumors, particularly among women who had had multiple episodes of PID. Although our results indicated a histotype-specific association with PID, the association of PID with ovarian cancer risk is still somewhat uncertain and requires further investigation.

Authors
Rasmussen, CB; Kjaer, SK; Albieri, V; Bandera, EV; Doherty, JA; Høgdall, E; Webb, PM; Jordan, SJ; Rossing, MA; Wicklund, KG; Goodman, MT; Modugno, F; Moysich, KB; Ness, RB; Edwards, RP; Schildkraut, JM; Berchuck, A; Olson, SH; Kiemeney, LA; Massuger, LFAG; Narod, SA; Phelan, CM; Anton-Culver, H; Ziogas, A; Wu, AH; Pearce, CL; Risch, HA; Jensen, A; , on behalf of the Ovarian Cancer Association Consortium,
MLA Citation
Rasmussen, CB, Kjaer, SK, Albieri, V, Bandera, EV, Doherty, JA, Høgdall, E, Webb, PM, Jordan, SJ, Rossing, MA, Wicklund, KG, Goodman, MT, Modugno, F, Moysich, KB, Ness, RB, Edwards, RP, Schildkraut, JM, Berchuck, A, Olson, SH, Kiemeney, LA, Massuger, LFAG, Narod, SA, Phelan, CM, Anton-Culver, H, Ziogas, A, Wu, AH, Pearce, CL, Risch, HA, Jensen, A, , and on behalf of the Ovarian Cancer Association Consortium, . "Pelvic Inflammatory Disease and the Risk of Ovarian Cancer and Borderline Ovarian Tumors: A Pooled Analysis of 13 Case-Control Studies." American Journal of Epidemiology 185.1 (January 2017): 8-20. (Review)
PMID
27941069
Source
epmc
Published In
American Journal of Epidemiology
Volume
185
Issue
1
Publish Date
2017
Start Page
8
End Page
20
DOI
10.1093/aje/kww161

Integration of Population-Level Genotype Data with Functional Annotation Reveals Over-Representation of Long Noncoding RNAs at Ovarian Cancer Susceptibility Loci.

Genome-wide association studies (GWAS) have identified multiple loci associated with epithelial ovarian cancer (EOC) susceptibility, but further progress requires integration of epidemiology and biology to illuminate true risk loci below genome-wide significance levels (P < 5 × 10-8). Most risk SNPs lie within non-protein-encoding regions, and we hypothesize that long noncoding RNA (lncRNA) genes are enriched at EOC risk regions and represent biologically relevant functional targets.Using imputed GWAS data from about 18,000 invasive EOC cases and 34,000 controls of European ancestry, the GENCODE (v19) lncRNA database was used to annotate SNPs from 13,442 lncRNAs for permutation-based enrichment analysis. Tumor expression quantitative trait locus (eQTL) analysis was performed for sub-genome-wide regions (1 × 10-5 > P > 5 × 10-8) overlapping lncRNAs.Of 5,294 EOC-associated SNPs (P < 1.0 × 10-5), 1,464 (28%) mapped within 53 unique lncRNAs and an additional 3,484 (66%) SNPs were correlated (r2 > 0.2) with SNPs within 115 lncRNAs. EOC-associated SNPs comprised 130 independent regions, of which 72 (55%) overlapped with lncRNAs, representing a significant enrichment (P = 5.0 × 10-4) that was more pronounced among a subset of 5,401 lncRNAs with active epigenetic regulation in normal ovarian tissue. EOC-associated lncRNAs and their putative promoters and transcription factors were enriched for biologically relevant pathways and eQTL analysis identified five novel putative risk regions with allele-specific effects on lncRNA gene expression.lncRNAs are significantly enriched at EOC risk regions, suggesting a mechanistic role for lncRNAs in driving predisposition to EOC.lncRNAs represent key candidates for integrative epidemiologic and functional studies. Further research on their biologic role in ovarian cancer is indicated. Cancer Epidemiol Biomarkers Prev; 26(1); 116-25. ©2016 AACR.

Authors
Reid, BM; Permuth, JB; Chen, YA; Teer, JK; Monteiro, ANA; Chen, Z; Tyrer, J; Berchuck, A; Chenevix-Trench, G; Doherty, JA; Goode, EL; Iverson, ES; Lawrenson, K; Pearce, CL; Pharoah, PD; Phelan, CM; Ramus, SJ; Rossing, MA; Schildkraut, JM; Cheng, JQ; Gayther, SA; Sellers, TA; Ovarian Cancer Association Consortium, ; Australian Ovarian Cancer Study Group and the Ovarian Cancer Association Consortium,
MLA Citation
Reid, BM, Permuth, JB, Chen, YA, Teer, JK, Monteiro, ANA, Chen, Z, Tyrer, J, Berchuck, A, Chenevix-Trench, G, Doherty, JA, Goode, EL, Iverson, ES, Lawrenson, K, Pearce, CL, Pharoah, PD, Phelan, CM, Ramus, SJ, Rossing, MA, Schildkraut, JM, Cheng, JQ, Gayther, SA, Sellers, TA, Ovarian Cancer Association Consortium, , and Australian Ovarian Cancer Study Group and the Ovarian Cancer Association Consortium, . "Integration of Population-Level Genotype Data with Functional Annotation Reveals Over-Representation of Long Noncoding RNAs at Ovarian Cancer Susceptibility Loci." Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology 26.1 (January 2017): 116-125.
PMID
28035019
Source
epmc
Published In
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology
Volume
26
Issue
1
Publish Date
2017
Start Page
116
End Page
125
DOI
10.1158/1055-9965.EPI-16-0341

Stress and burnout among gynecologic oncologists: A society of gynecologic oncology evidence-based review and recommendations

Authors
Cass, I; Duska, LR; Blank, SV; Cheng, G; Dupont, NC; Frederick, PJ; Hill, EK; Matthews, CM; Pua, TL; Rath, KS; Ruskin, R; Thaker, PH; Berchuck, A; Gostout, BS; Kushner, DM; Fowler, JM
MLA Citation
Cass, I, Duska, LR, Blank, SV, Cheng, G, Dupont, NC, Frederick, PJ, Hill, EK, Matthews, CM, Pua, TL, Rath, KS, Ruskin, R, Thaker, PH, Berchuck, A, Gostout, BS, Kushner, DM, and Fowler, JM. "Stress and burnout among gynecologic oncologists: A society of gynecologic oncology evidence-based review and recommendations." Obstetrical and Gynecological Survey 71.12 (December 1, 2016): 715-717.
Source
scopus
Published In
Obstetrical & Gynecological Survey
Volume
71
Issue
12
Publish Date
2016
Start Page
715
End Page
717
DOI
10.1097/OGX.0000000000000382

A splicing variant of TERT identified by GWAS interacts with menopausal estrogen therapy in risk of ovarian cancer.

Menopausal estrogen-alone therapy (ET) is a well-established risk factor for serous and endometrioid ovarian cancer. Genetics also plays a role in ovarian cancer, which is partly attributable to 18 confirmed ovarian cancer susceptibility loci identified by genome-wide association studies. The interplay among these loci, ET use and ovarian cancer risk has yet to be evaluated. We analyzed data from 1,414 serous cases, 337 endometrioid cases and 4,051 controls across 10 case-control studies participating in the Ovarian Cancer Association Consortium (OCAC). Conditional logistic regression was used to determine the association between the confirmed susceptibility variants and risk of serous and endometrioid ovarian cancer among ET users and non-users separately and to test for statistical interaction. A splicing variant in TERT, rs10069690, showed a statistically significant interaction with ET use for risk of serous ovarian cancer (pint  = 0.013). ET users carrying the T allele had a 51% increased risk of disease (OR = 1.51, 95% CI 1.19-1.91), which was stronger for long-term ET users of 10+ years (OR = 1.85, 95% CI 1.28-2.66, pint  = 0.034). Non-users showed essentially no association (OR = 1.08, 95% CI 0.96-1.21). Two additional genomic regions harboring rs7207826 (C allele) and rs56318008 (T allele) also had significant interactions with ET use for the endometrioid histotype (pint  = 0.021 and pint  = 0.037, respectively). Hence, three confirmed susceptibility variants were identified whose associations with ovarian cancer risk are modified by ET exposure; follow-up is warranted given that these interactions are not adjusted for multiple comparisons. These findings, if validated, may elucidate the mechanism of action of these loci.

Authors
Lee, AW; Bomkamp, A; Bandera, EV; Jensen, A; Ramus, SJ; Goodman, MT; Rossing, MA; Modugno, F; Moysich, KB; Chang-Claude, J; Rudolph, A; Gentry-Maharaj, A; Terry, KL; Gayther, SA; Cramer, DW; Doherty, JA; Schildkraut, JM; Kjaer, SK; Ness, RB; Menon, U; Berchuck, A; Mukherjee, B; Roman, L; Pharoah, PD; Chenevix-Trench, G; Olson, S; Hogdall, E; Wu, AH; Pike, MC; Stram, DO; Pearce, CL; Ovarian Cancer Association Consortium,
MLA Citation
Lee, AW, Bomkamp, A, Bandera, EV, Jensen, A, Ramus, SJ, Goodman, MT, Rossing, MA, Modugno, F, Moysich, KB, Chang-Claude, J, Rudolph, A, Gentry-Maharaj, A, Terry, KL, Gayther, SA, Cramer, DW, Doherty, JA, Schildkraut, JM, Kjaer, SK, Ness, RB, Menon, U, Berchuck, A, Mukherjee, B, Roman, L, Pharoah, PD, Chenevix-Trench, G, Olson, S, Hogdall, E, Wu, AH, Pike, MC, Stram, DO, Pearce, CL, and Ovarian Cancer Association Consortium, . "A splicing variant of TERT identified by GWAS interacts with menopausal estrogen therapy in risk of ovarian cancer." International Journal of Cancer 139.12 (December 2016): 2646-2654.
PMID
27420401
Source
epmc
Published In
International Journal of Cancer
Volume
139
Issue
12
Publish Date
2016
Start Page
2646
End Page
2654
DOI
10.1002/ijc.30274

Telomere structure and maintenance gene variants and risk of five cancer types.

Telomeres cap chromosome ends, protecting them from degradation, double-strand breaks, and end-to-end fusions. Telomeres are maintained by telomerase, a reverse transcriptase encoded by TERT, and an RNA template encoded by TERC. Loci in the TERT and adjoining CLPTM1L region are associated with risk of multiple cancers. We therefore investigated associations between variants in 22 telomere structure and maintenance gene regions and colorectal, breast, prostate, ovarian, and lung cancer risk. We performed subset-based meta-analyses of 204,993 directly-measured and imputed SNPs among 61,851 cancer cases and 74,457 controls of European descent. Independent associations for SNP minor alleles were identified using sequential conditional analysis (with gene-level p value cutoffs ≤3.08 × 10-5 ). Of the thirteen independent SNPs observed to be associated with cancer risk, novel findings were observed for seven loci. Across the DCLRE1B region, rs974494 and rs12144215 were inversely associated with prostate and lung cancers, and colorectal, breast, and prostate cancers, respectively. Across the TERC region, rs75316749 was positively associated with colorectal, breast, ovarian, and lung cancers. Across the DCLRE1B region, rs974404 and rs12144215 were inversely associated with prostate and lung cancers, and colorectal, breast, and prostate cancers, respectively. Near POT1, rs116895242 was inversely associated with colorectal, ovarian, and lung cancers, and RTEL1 rs34978822 was inversely associated with prostate and lung cancers. The complex association patterns in telomere-related genes across cancer types may provide insight into mechanisms through which telomere dysfunction in different tissues influences cancer risk.

Authors
Karami, S; Han, Y; Pande, M; Cheng, I; Rudd, J; Pierce, BL; Nutter, EL; Schumacher, FR; Kote-Jarai, Z; Lindstrom, S; Witte, JS; Fang, S; Han, J; Kraft, P; Hunter, DJ; Song, F; Hung, RJ; McKay, J; Gruber, SB; Chanock, SJ; Risch, A; Shen, H; Haiman, CA; Boardman, L; Ulrich, CM; Casey, G; Peters, U; Amin Al Olama, A; Berchuck, A; Berndt, SI; Bezieau, S; Brennan, P; Brenner, H; Brinton, L; Caporaso, N; Chan, AT; Chang-Claude, J; Christiani, DC; Cunningham, JM; Easton, D; Eeles, RA; Eisen, T; Gala, M; Gallinger, SJ; Gayther, SA; Goode, EL; Grönberg, H; Henderson, BE; Houlston, R; Joshi, AD; Küry, S; Landi, MT; Le Marchand, L; Muir, K; Newcomb, PA; Permuth-Wey, J; Pharoah, P; Phelan, C; Potter, JD; Ramus, SJ; Risch, H; Schildkraut, J; Slattery, ML; Song, H; Wentzensen, N; White, E; Wiklund, F; Zanke, BW; Sellers, TA; Zheng, W; Chatterjee, N; Amos, CI; Doherty, JA; GECCO and the GAME-ON Network: CORECT, DRIVE, ELLIPSE, FOCI, and TRICL,
MLA Citation
Karami, S, Han, Y, Pande, M, Cheng, I, Rudd, J, Pierce, BL, Nutter, EL, Schumacher, FR, Kote-Jarai, Z, Lindstrom, S, Witte, JS, Fang, S, Han, J, Kraft, P, Hunter, DJ, Song, F, Hung, RJ, McKay, J, Gruber, SB, Chanock, SJ, Risch, A, Shen, H, Haiman, CA, Boardman, L, Ulrich, CM, Casey, G, Peters, U, Amin Al Olama, A, Berchuck, A, Berndt, SI, Bezieau, S, Brennan, P, Brenner, H, Brinton, L, Caporaso, N, Chan, AT, Chang-Claude, J, Christiani, DC, Cunningham, JM, Easton, D, Eeles, RA, Eisen, T, Gala, M, Gallinger, SJ, Gayther, SA, Goode, EL, Grönberg, H, Henderson, BE, Houlston, R, Joshi, AD, Küry, S, Landi, MT, Le Marchand, L, Muir, K, Newcomb, PA, Permuth-Wey, J, Pharoah, P, Phelan, C, Potter, JD, Ramus, SJ, Risch, H, Schildkraut, J, Slattery, ML, Song, H, Wentzensen, N, White, E, Wiklund, F, Zanke, BW, Sellers, TA, Zheng, W, Chatterjee, N, Amos, CI, Doherty, JA, GECCO and the GAME-ON Network: CORECT, DRIVE, ELLIPSE, FOCI, and and TRICL, . "Telomere structure and maintenance gene variants and risk of five cancer types." International Journal of Cancer 139.12 (December 2016): 2655-2670.
PMID
27459707
Source
epmc
Published In
International Journal of Cancer
Volume
139
Issue
12
Publish Date
2016
Start Page
2655
End Page
2670
DOI
10.1002/ijc.30288

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.

BACKGROUND:The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. METHODS:We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant. RESULTS:For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10-5), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10-8) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants. CONCLUSIONS:This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important.

Authors
Southey, MC; Goldgar, DE; Winqvist, R; Pylkäs, K; Couch, F; Tischkowitz, M; Foulkes, WD; Dennis, J; Michailidou, K; van Rensburg, EJ; Heikkinen, T; Nevanlinna, H; Hopper, JL; Dörk, T; Claes, KB; Reis-Filho, J; Teo, ZL; Radice, P; Catucci, I; Peterlongo, P; Tsimiklis, H; Odefrey, FA; Dowty, JG; Schmidt, MK; Broeks, A; Hogervorst, FB; Verhoef, S; Carpenter, J; Clarke, C; Scott, RJ; Fasching, PA; Haeberle, L; Ekici, AB; Beckmann, MW; Peto, J; Dos-Santos-Silva, I; Fletcher, O; Johnson, N; Bolla, MK; Sawyer, EJ; Tomlinson, I; Kerin, MJ; Miller, N; Marme, F; Burwinkel, B; Yang, R; Guénel, P; Truong, T; Menegaux, F; Sanchez, M; Bojesen, S; Nielsen, SF; Flyger, H; Benitez, J; Zamora, MP; Perez, JIA; Menéndez, P; Anton-Culver, H; Neuhausen, S; Ziogas, A; Clarke, CA; Brenner, H; Arndt, V; Stegmaier, C; Brauch, H; Brüning, T; Ko, Y-D; Muranen, TA; Aittomäki, K; Blomqvist, C; Bogdanova, NV; Antonenkova, NN; Lindblom, A; Margolin, S; Mannermaa, A; Kataja, V; Kosma, V-M; Hartikainen, JM; Spurdle, AB; Investigators, K; Australian Ovarian Cancer Study Group, ; Wauters, E; Smeets, D; Beuselinck, B; Floris, G; Chang-Claude, J; Rudolph, A; Seibold, P; Flesch-Janys, D; Olson, JE; Vachon, C; Pankratz, VS; McLean, C; Haiman, CA; Henderson, BE; Schumacher, F; Le Marchand, L; Kristensen, V; Alnæs, GG; Zheng, W; Hunter, DJ; Lindstrom, S; Hankinson, SE; Kraft, P; Andrulis, I; Knight, JA; Glendon, G; Mulligan, AM; Jukkola-Vuorinen, A; Grip, M; Kauppila, S; Devilee, P; Tollenaar, RAEM; Seynaeve, C; Hollestelle, A; Garcia-Closas, M; Figueroa, J; Chanock, SJ; Lissowska, J; Czene, K; Darabi, H; Eriksson, M; Eccles, DM; Rafiq, S; Tapper, WJ; Gerty, SM; Hooning, MJ; Martens, JWM; Collée, JM; Tilanus-Linthorst, M; Hall, P; Li, J; Brand, JS; Humphreys, K; Cox, A; Reed, MWR; Luccarini, C; Baynes, C; Dunning, AM; Hamann, U; Torres, D; Ulmer, HU; Rüdiger, T; Jakubowska, A; Lubinski, J; Jaworska, K; Durda, K; Slager, S; Toland, AE; Ambrosone, CB; Yannoukakos, D; Swerdlow, A; Ashworth, A; Orr, N; Jones, M; González-Neira, A; Pita, G; Alonso, MR; Álvarez, N; Herrero, D; Tessier, DC; Vincent, D; Bacot, F; Simard, J; Dumont, M; Soucy, P; Eeles, R; Muir, K; Wiklund, F; Gronberg, H; Schleutker, J; Nordestgaard, BG; Weischer, M; Travis, RC; Neal, D; Donovan, JL; Hamdy, FC; Khaw, K-T; Stanford, JL; Blot, WJ; Thibodeau, S; Schaid, DJ; Kelley, JL; Maier, C; Kibel, AS; Cybulski, C; Cannon-Albright, L; Butterbach, K; Park, J; Kaneva, R; Batra, J; Teixeira, MR; Kote-Jarai, Z; Olama, AAA; Benlloch, S; Renner, SP; Hartmann, A; Hein, A; Ruebner, M; Lambrechts, D; Van Nieuwenhuysen, E; Vergote, I; Lambretchs, S; Doherty, JA; Rossing, MA; Nickels, S; Eilber, U; Wang-Gohrke, S; Odunsi, K; Sucheston-Campbell, LE; Friel, G; Lurie, G; Killeen, JL; Wilkens, LR; Goodman, MT; Runnebaum, I; Hillemanns, PA; Pelttari, LM; Butzow, R; Modugno, F; Edwards, RP; Ness, RB; Moysich, KB; du Bois, A; Heitz, F; Harter, P; Kommoss, S; Karlan, BY; Walsh, C; Lester, J; Jensen, A; Kjaer, SK; Høgdall, E; Peissel, B; Bonanni, B; Bernard, L; Goode, EL; Fridley, BL; Vierkant, RA; Cunningham, JM; Larson, MC; Fogarty, ZC; Kalli, KR; Liang, D; Lu, KH; Hildebrandt, MAT; Wu, X; Levine, DA; Dao, F; Bisogna, M; Berchuck, A; Iversen, ES; Marks, JR; Akushevich, L; Cramer, DW; Schildkraut, J; Terry, KL; Poole, EM; Stampfer, M; Tworoger, SS; Bandera, EV; Orlow, I; Olson, SH; Bjorge, L; Salvesen, HB; van Altena, AM; Aben, KKH; Kiemeney, LA; Massuger, LFAG; Pejovic, T; Bean, Y; Brooks-Wilson, A; Kelemen, LE; Cook, LS; Le, ND; Górski, B; Gronwald, J; Menkiszak, J; Høgdall, CK; Lundvall, L; Nedergaard, L; Engelholm, SA; Dicks, E; Tyrer, J; Campbell, I; McNeish, I; Paul, J; Siddiqui, N; Glasspool, R; Whittemore, AS; Rothstein, JH; McGuire, V; Sieh, W; Cai, H; Shu, X-O; Teten, RT; Sutphen, R; McLaughlin, JR; Narod, SA; Phelan, CM; Monteiro, AN; Fenstermacher, D; Lin, H-Y; Permuth, JB; Sellers, TA; Chen, YA; Tsai, Y-Y; Chen, Z; Gentry-Maharaj, A; Gayther, SA; Ramus, SJ; Menon, U; Wu, AH; Pearce, CL; Van Den Berg, D; Pike, MC; Dansonka-Mieszkowska, A; Plisiecka-Halasa, J; Moes-Sosnowska, J; Kupryjanczyk, J; Pharoah, PD; Song, H; Winship, I; Chenevix-Trench, G; Giles, GG; Tavtigian, SV; Easton, DF; Milne, RL
MLA Citation
Southey, MC, Goldgar, DE, Winqvist, R, Pylkäs, K, Couch, F, Tischkowitz, M, Foulkes, WD, Dennis, J, Michailidou, K, van Rensburg, EJ, Heikkinen, T, Nevanlinna, H, Hopper, JL, Dörk, T, Claes, KB, Reis-Filho, J, Teo, ZL, Radice, P, Catucci, I, Peterlongo, P, Tsimiklis, H, Odefrey, FA, Dowty, JG, Schmidt, MK, Broeks, A, Hogervorst, FB, Verhoef, S, Carpenter, J, Clarke, C, Scott, RJ, Fasching, PA, Haeberle, L, Ekici, AB, Beckmann, MW, Peto, J, Dos-Santos-Silva, I, Fletcher, O, Johnson, N, Bolla, MK, Sawyer, EJ, Tomlinson, I, Kerin, MJ, Miller, N, Marme, F, Burwinkel, B, Yang, R, Guénel, P, Truong, T, Menegaux, F, Sanchez, M, Bojesen, S, Nielsen, SF, Flyger, H, Benitez, J, Zamora, MP, Perez, JIA, Menéndez, P, Anton-Culver, H, Neuhausen, S, Ziogas, A, Clarke, CA, Brenner, H, Arndt, V, Stegmaier, C, Brauch, H, Brüning, T, Ko, Y-D, Muranen, TA, Aittomäki, K, Blomqvist, C, Bogdanova, NV, Antonenkova, NN, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, V-M, Hartikainen, JM, Spurdle, AB, Investigators, K, Australian Ovarian Cancer Study Group, , Wauters, E, Smeets, D, Beuselinck, B, Floris, G, Chang-Claude, J, Rudolph, A, Seibold, P, Flesch-Janys, D, Olson, JE, Vachon, C, Pankratz, VS, McLean, C, Haiman, CA, Henderson, BE, Schumacher, F, Le Marchand, L, Kristensen, V, Alnæs, GG, Zheng, W, Hunter, DJ, Lindstrom, S, Hankinson, SE, Kraft, P, Andrulis, I, Knight, JA, Glendon, G, Mulligan, AM, Jukkola-Vuorinen, A, Grip, M, Kauppila, S, Devilee, P, Tollenaar, RAEM, Seynaeve, C, Hollestelle, A, Garcia-Closas, M, Figueroa, J, Chanock, SJ, Lissowska, J, Czene, K, Darabi, H, Eriksson, M, Eccles, DM, Rafiq, S, Tapper, WJ, Gerty, SM, Hooning, MJ, Martens, JWM, Collée, JM, Tilanus-Linthorst, M, Hall, P, Li, J, Brand, JS, Humphreys, K, Cox, A, Reed, MWR, Luccarini, C, Baynes, C, Dunning, AM, Hamann, U, Torres, D, Ulmer, HU, Rüdiger, T, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Slager, S, Toland, AE, Ambrosone, CB, Yannoukakos, D, Swerdlow, A, Ashworth, A, Orr, N, Jones, M, González-Neira, A, Pita, G, Alonso, MR, Álvarez, N, Herrero, D, Tessier, DC, Vincent, D, Bacot, F, Simard, J, Dumont, M, Soucy, P, Eeles, R, Muir, K, Wiklund, F, Gronberg, H, Schleutker, J, Nordestgaard, BG, Weischer, M, Travis, RC, Neal, D, Donovan, JL, Hamdy, FC, Khaw, K-T, Stanford, JL, Blot, WJ, Thibodeau, S, Schaid, DJ, Kelley, JL, Maier, C, Kibel, AS, Cybulski, C, Cannon-Albright, L, Butterbach, K, Park, J, Kaneva, R, Batra, J, Teixeira, MR, Kote-Jarai, Z, Olama, AAA, Benlloch, S, Renner, SP, Hartmann, A, Hein, A, Ruebner, M, Lambrechts, D, Van Nieuwenhuysen, E, Vergote, I, Lambretchs, S, Doherty, JA, Rossing, MA, Nickels, S, Eilber, U, Wang-Gohrke, S, Odunsi, K, Sucheston-Campbell, LE, Friel, G, Lurie, G, Killeen, JL, Wilkens, LR, Goodman, MT, Runnebaum, I, Hillemanns, PA, Pelttari, LM, Butzow, R, Modugno, F, Edwards, RP, Ness, RB, Moysich, KB, du Bois, A, Heitz, F, Harter, P, Kommoss, S, Karlan, BY, Walsh, C, Lester, J, Jensen, A, Kjaer, SK, Høgdall, E, Peissel, B, Bonanni, B, Bernard, L, Goode, EL, Fridley, BL, Vierkant, RA, Cunningham, JM, Larson, MC, Fogarty, ZC, Kalli, KR, Liang, D, Lu, KH, Hildebrandt, MAT, Wu, X, Levine, DA, Dao, F, Bisogna, M, Berchuck, A, Iversen, ES, Marks, JR, Akushevich, L, Cramer, DW, Schildkraut, J, Terry, KL, Poole, EM, Stampfer, M, Tworoger, SS, Bandera, EV, Orlow, I, Olson, SH, Bjorge, L, Salvesen, HB, van Altena, AM, Aben, KKH, Kiemeney, LA, Massuger, LFAG, Pejovic, T, Bean, Y, Brooks-Wilson, A, Kelemen, LE, Cook, LS, Le, ND, Górski, B, Gronwald, J, Menkiszak, J, Høgdall, CK, Lundvall, L, Nedergaard, L, Engelholm, SA, Dicks, E, Tyrer, J, Campbell, I, McNeish, I, Paul, J, Siddiqui, N, Glasspool, R, Whittemore, AS, Rothstein, JH, McGuire, V, Sieh, W, Cai, H, Shu, X-O, Teten, RT, Sutphen, R, McLaughlin, JR, Narod, SA, Phelan, CM, Monteiro, AN, Fenstermacher, D, Lin, H-Y, Permuth, JB, Sellers, TA, Chen, YA, Tsai, Y-Y, Chen, Z, Gentry-Maharaj, A, Gayther, SA, Ramus, SJ, Menon, U, Wu, AH, Pearce, CL, Van Den Berg, D, Pike, MC, Dansonka-Mieszkowska, A, Plisiecka-Halasa, J, Moes-Sosnowska, J, Kupryjanczyk, J, Pharoah, PD, Song, H, Winship, I, Chenevix-Trench, G, Giles, GG, Tavtigian, SV, Easton, DF, and Milne, RL. "PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS." Journal of Medical Genetics 53.12 (December 2016): 800-811.
PMID
27595995
Source
epmc
Published In
Journal of Medical Genetics
Volume
53
Issue
12
Publish Date
2016
Start Page
800
End Page
811
DOI
10.1136/jmedgenet-2016-103839

Stress and burnout among gynecologic oncologists: A Society of Gynecologic Oncology Evidence-based Review and Recommendations.

Authors
Cass, I; Duska, LR; Blank, SV; Cheng, G; duPont, NC; Frederick, PJ; Hill, EK; Matthews, CM; Pua, TL; Rath, KS; Ruskin, R; Thaker, PH; Berchuck, A; Gostout, BS; Kushner, DM; Fowler, JM
MLA Citation
Cass, I, Duska, LR, Blank, SV, Cheng, G, duPont, NC, Frederick, PJ, Hill, EK, Matthews, CM, Pua, TL, Rath, KS, Ruskin, R, Thaker, PH, Berchuck, A, Gostout, BS, Kushner, DM, and Fowler, JM. "Stress and burnout among gynecologic oncologists: A Society of Gynecologic Oncology Evidence-based Review and Recommendations." Gynecologic Oncology 143.2 (November 2016): 421-427. (Review)
PMID
27575910
Source
epmc
Published In
Gynecologic Oncology
Volume
143
Issue
2
Publish Date
2016
Start Page
421
End Page
427
DOI
10.1016/j.ygyno.2016.08.319

Inherited variants affecting RNA editing may contribute to ovarian cancer susceptibility: results from a large-scale collaboration.

RNA editing in mammals is a form of post-transcriptional modification in which adenosine is converted to inosine by the adenosine deaminases acting on RNA (ADAR) family of enzymes. Based on evidence of altered ADAR expression in epithelial ovarian cancers (EOC), we hypothesized that single nucleotide polymorphisms (SNPs) in ADAR genes modify EOC susceptibility, potentially by altering ovarian tissue gene expression. Using directly genotyped and imputed data from 10,891 invasive EOC cases and 21,693 controls, we evaluated the associations of 5,303 SNPs in ADAD1, ADAR, ADAR2, ADAR3, and SND1. Unconditional logistic regression was used to estimate odds ratios (OR) and 95% confidence intervals (CI), with adjustment for European ancestry. We conducted gene-level analyses using the Admixture Maximum Likelihood (AML) test and the Sequence-Kernel Association test for common and rare variants (SKAT-CR). Association analysis revealed top risk-associated SNP rs77027562 (OR (95% CI)= 1.39 (1.17-1.64), P=1.0x10-4) in ADAR3 and rs185455523 in SND1 (OR (95% CI)= 0.68 (0.56-0.83), P=2.0x10-4). When restricting to serous histology (n=6,500), the magnitude of association strengthened for rs185455523 (OR=0.60, P=1.0x10-4). Gene-level analyses revealed that variation in ADAR was associated (P<0.05) with EOC susceptibility, with PAML=0.022 and PSKAT-CR=0.020. Expression quantitative trait locus analysis in EOC tissue revealed significant associations (P<0.05) with ADAR expression for several SNPs in ADAR, including rs1127313 (G/A), a SNP in the 3' untranslated region. In summary, germline variation involving RNA editing genes may influence EOC susceptibility, warranting further investigation of inherited and acquired alterations affecting RNA editing.

Authors
Permuth, JB; Reid, B; Earp, M; Chen, YA; Monteiro, ANA; Chen, Z; AOCS Study Group, ; Chenevix-Trench, G; Fasching, PA; Beckmann, MW; Lambrechts, D; Vanderstichele, A; Van Niewenhuyse, E; Vergote, I; Rossing, MA; Doherty, JA; Chang-Claude, J; Moysich, K; Odunsi, K; Goodman, MT; Shvetsov, YB; Wilkens, LR; Thompson, PJ; Dörk, T; Bogdanova, N; Butzow, R; Nevanlinna, H; Pelttari, L; Leminen, A; Modugno, F; Edwards, RP; Ness, RB; Kelley, J; Heitz, F; Karlan, B; Lester, J; Kjaer, SK; Jensen, A; Giles, G; Hildebrandt, M; Liang, D; Lu, KH; Wu, X; Levine, DA; Bisogna, M; Berchuck, A; Cramer, DW; Terry, KL; Tworoger, SS; Poole, EM; Bandera, EV; Fridley, B; Cunningham, J; Winham, SJ; Olson, SH; Orlow, I; Bjorge, L; Kiemeney, LA; Massuger, L; Pejovic, T; Moffitt, M; Le, N; Cook, LS; Brooks-Wilson, A; Kelemen, LE; Gronwald, J; Lubinski, J; Wentzensen, N; Brinton, LA; Lissowska, J; Yang, H; Hogdall, E; Hogdall, C; Lundvall, L; Pharoah, PDP; Song, H; Campbell, I; Eccles, D; McNeish, I; Whittemore, A; McGuire, V; Sieh, W; Rothstein, J; Phelan, CM; Risch, H; Narod, S; McLaughlin, J; Anton-Culver, H; Ziogas, A; Menon, U; Gayther, S; Ramus, SJ; Gentry-Maharaj, A; Pearce, CL; Wu, AH; Kupryjanczyk, J; Dansonka-Mieszkowska, A; Schildkraut, JM; Cheng, JQ; Goode, EL; Sellers, TA
MLA Citation
Permuth, JB, Reid, B, Earp, M, Chen, YA, Monteiro, ANA, Chen, Z, AOCS Study Group, , Chenevix-Trench, G, Fasching, PA, Beckmann, MW, Lambrechts, D, Vanderstichele, A, Van Niewenhuyse, E, Vergote, I, Rossing, MA, Doherty, JA, Chang-Claude, J, Moysich, K, Odunsi, K, Goodman, MT, Shvetsov, YB, Wilkens, LR, Thompson, PJ, Dörk, T, Bogdanova, N, Butzow, R, Nevanlinna, H, Pelttari, L, Leminen, A, Modugno, F, Edwards, RP, Ness, RB, Kelley, J, Heitz, F, Karlan, B, Lester, J, Kjaer, SK, Jensen, A, Giles, G, Hildebrandt, M, Liang, D, Lu, KH, Wu, X, Levine, DA, Bisogna, M, Berchuck, A, Cramer, DW, Terry, KL, Tworoger, SS, Poole, EM, Bandera, EV, Fridley, B, Cunningham, J, Winham, SJ, Olson, SH, Orlow, I, Bjorge, L, Kiemeney, LA, Massuger, L, Pejovic, T, Moffitt, M, Le, N, Cook, LS, Brooks-Wilson, A, Kelemen, LE, Gronwald, J, Lubinski, J, Wentzensen, N, Brinton, LA, Lissowska, J, Yang, H, Hogdall, E, Hogdall, C, Lundvall, L, Pharoah, PDP, Song, H, Campbell, I, Eccles, D, McNeish, I, Whittemore, A, McGuire, V, Sieh, W, Rothstein, J, Phelan, CM, Risch, H, Narod, S, McLaughlin, J, Anton-Culver, H, Ziogas, A, Menon, U, Gayther, S, Ramus, SJ, Gentry-Maharaj, A, Pearce, CL, Wu, AH, Kupryjanczyk, J, Dansonka-Mieszkowska, A, Schildkraut, JM, Cheng, JQ, Goode, EL, and Sellers, TA. "Inherited variants affecting RNA editing may contribute to ovarian cancer susceptibility: results from a large-scale collaboration." Oncotarget 7.45 (November 2016): 72381-72394.
PMID
27911851
Source
epmc
Published In
Oncotarget
Volume
7
Issue
45
Publish Date
2016
Start Page
72381
End Page
72394
DOI
10.18632/oncotarget.10546

Risk Prediction for Epithelial Ovarian Cancer in 11 United States-Based Case-Control Studies: Incorporation of Epidemiologic Risk Factors and 17 Confirmed Genetic Loci

© The Author 2016. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com. Previously developed models for predicting absolute risk of invasive epithelial ovarian cancer have included a limited number of risk factors and have had low discriminatory power (area under the receiver operating characteristic curve (AUC)  < 0.60). Because of this, we developed and internally validated a relative risk prediction model that incorporates 17 established epidemiologic risk factors and 17 genome-wide significant single nucleotide polymorphisms (SNPs) using data from 11 case-control studies in the United States (5,793 cases; 9,512 controls) from the Ovarian Cancer Association Consortium (data accrued from 1992 to 2010). We developed a hierarchical logistic regression model for predicting case-control status that included imputation of missing data. We randomly divided the data into an 80% training sample and used the remaining 20% for model evaluation. The AUC for the full model was 0.664. A reduced model without SNPs performed similarly (AUC = 0.649). Both models performed better than a baseline model that included age and study site only (AUC = 0.563). The best predictive power was obtained in the full model among women younger than 50 years of age (AUC = 0.714); however, the addition of SNPs increased the AUC the most for women older than 50 years of age (AUC = 0.638 vs. 0.616). Adapting this improved model to estimate absolute risk and evaluating it in prospective data sets is warranted.

Authors
Clyde, MA; Palmieri Weber, R; Iversen, ES; Poole, EM; Doherty, JA; Goodman, MT; Ness, RB; Risch, HA; Rossing, MA; Terry, KL; Wentzensen, N; Whittemore, AS; Anton-Culver, H; Bandera, EV; Berchuck, A; Carney, ME; Cramer, DW; Cunningham, JM; Cushing-Haugen, KL; Edwards, RP; Fridley, BL; Goode, EL; Lurie, G; McGuire, V; Modugno, F; Moysich, KB; Olson, SH; Pearce, CL; Pike, MC; Rothstein, JH; Sellers, TA; Sieh, W; Stram, D; Thompson, PJ; Vierkant, RA; Wicklund, KG; Wu, AH; Ziogas, A; Tworoger, SS et al.
MLA Citation
Clyde, MA, Palmieri Weber, R, Iversen, ES, Poole, EM, Doherty, JA, Goodman, MT, Ness, RB, Risch, HA, Rossing, MA, Terry, KL, Wentzensen, N, Whittemore, AS, Anton-Culver, H, Bandera, EV, Berchuck, A, Carney, ME, Cramer, DW, Cunningham, JM, Cushing-Haugen, KL, Edwards, RP, Fridley, BL, Goode, EL, Lurie, G, McGuire, V, Modugno, F, Moysich, KB, Olson, SH, Pearce, CL, Pike, MC, Rothstein, JH, Sellers, TA, Sieh, W, Stram, D, Thompson, PJ, Vierkant, RA, Wicklund, KG, Wu, AH, Ziogas, A, and Tworoger, SS et al. "Risk Prediction for Epithelial Ovarian Cancer in 11 United States-Based Case-Control Studies: Incorporation of Epidemiologic Risk Factors and 17 Confirmed Genetic Loci." American journal of epidemiology 184.8 (October 15, 2016): 579-589.
Source
scopus
Published In
American Journal of Epidemiology
Volume
184
Issue
8
Publish Date
2016
Start Page
579
End Page
589

Risk Prediction for Epithelial Ovarian Cancer in 11 United States-Based Case-Control Studies: Incorporation of Epidemiologic Risk Factors and 17 Confirmed Genetic Loci

© The Author 2016. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com. Previously developed models for predicting absolute risk of invasive epithelial ovarian cancer have included a limited number of risk factors and have had low discriminatory power (area under the receiver operating characteristic curve (AUC) < 0.60). Because of this, we developed and internally validated a relative risk prediction model that incorporates 17 established epidemiologic risk factors and 17 genome-wide significant single nucleotide polymorphisms (SNPs) using data from 11 case-control studies in the United States (5,793 cases; 9,512 controls) from the Ovarian Cancer Association Consortium (data accrued from 1992 to 2010). We developed a hierarchical logistic regression model for predicting case-control status that included imputation of missing data. We randomly divided the data into an 80% training sample and used the remaining 20% for model evaluation. The AUC for the full model was 0.664. A reduced model without SNPs performed similarly (AUC = 0.649). Both models performed better than a baseline model that included age and study site only (AUC = 0.563). The best predictive power was obtained in the full model among women younger than 50 years of age (AUC = 0.714); however, the addition of SNPs increased the AUC the most for women older than 50 years of age (AUC = 0.638 vs. 0.616). Adapting this improved model to estimate absolute risk and evaluating it in prospective data sets is warranted.

Authors
Clyde, MA; Palmieri Weber, R; Iversen, ES; Poole, EM; Doherty, JA; Goodman, MT; Ness, RB; Risch, HA; Rossing, MA; Terry, KL; Wentzensen, N; Whittemore, AS; Anton-Culver, H; Bandera, EV; Berchuck, A; Carney, ME; Cramer, DW; Cunningham, JM; Cushing-Haugen, KL; Edwards, RP; Fridley, BL; Goode, EL; Lurie, G; McGuire, V; Modugno, F; Moysich, KB; Olson, SH; Pearce, CL; Pike, MC; Rothstein, JH; Sellers, TA; Sieh, W; Stram, D; Thompson, PJ; Vierkant, RA; Wicklund, KG; Wu, AH; Ziogas, A; Tworoger, SS; Schildkraut, JM
MLA Citation
Clyde, MA, Palmieri Weber, R, Iversen, ES, Poole, EM, Doherty, JA, Goodman, MT, Ness, RB, Risch, HA, Rossing, MA, Terry, KL, Wentzensen, N, Whittemore, AS, Anton-Culver, H, Bandera, EV, Berchuck, A, Carney, ME, Cramer, DW, Cunningham, JM, Cushing-Haugen, KL, Edwards, RP, Fridley, BL, Goode, EL, Lurie, G, McGuire, V, Modugno, F, Moysich, KB, Olson, SH, Pearce, CL, Pike, MC, Rothstein, JH, Sellers, TA, Sieh, W, Stram, D, Thompson, PJ, Vierkant, RA, Wicklund, KG, Wu, AH, Ziogas, A, Tworoger, SS, and Schildkraut, JM. "Risk Prediction for Epithelial Ovarian Cancer in 11 United States-Based Case-Control Studies: Incorporation of Epidemiologic Risk Factors and 17 Confirmed Genetic Loci." American Journal of Epidemiology 184.8 (October 15, 2016): 579-589.
Source
scopus
Published In
American Journal of Epidemiology
Volume
184
Issue
8
Publish Date
2016
Start Page
579
End Page
589

Risk Prediction for Epithelial Ovarian Cancer in 11 United States-Based Case-Control Studies: Incorporation of Epidemiologic Risk Factors and 17 Confirmed Genetic Loci.

Previously developed models for predicting absolute risk of invasive epithelial ovarian cancer have included a limited number of risk factors and have had low discriminatory power (area under the receiver operating characteristic curve (AUC) < 0.60). Because of this, we developed and internally validated a relative risk prediction model that incorporates 17 established epidemiologic risk factors and 17 genome-wide significant single nucleotide polymorphisms (SNPs) using data from 11 case-control studies in the United States (5,793 cases; 9,512 controls) from the Ovarian Cancer Association Consortium (data accrued from 1992 to 2010). We developed a hierarchical logistic regression model for predicting case-control status that included imputation of missing data. We randomly divided the data into an 80% training sample and used the remaining 20% for model evaluation. The AUC for the full model was 0.664. A reduced model without SNPs performed similarly (AUC = 0.649). Both models performed better than a baseline model that included age and study site only (AUC = 0.563). The best predictive power was obtained in the full model among women younger than 50 years of age (AUC = 0.714); however, the addition of SNPs increased the AUC the most for women older than 50 years of age (AUC = 0.638 vs. 0.616). Adapting this improved model to estimate absolute risk and evaluating it in prospective data sets is warranted.

Authors
Clyde, MA; Palmieri Weber, R; Iversen, ES; Poole, EM; Doherty, JA; Goodman, MT; Ness, RB; Risch, HA; Rossing, MA; Terry, KL; Wentzensen, N; Whittemore, AS; Anton-Culver, H; Bandera, EV; Berchuck, A; Carney, ME; Cramer, DW; Cunningham, JM; Cushing-Haugen, KL; Edwards, RP; Fridley, BL; Goode, EL; Lurie, G; McGuire, V; Modugno, F; Moysich, KB; Olson, SH; Pearce, CL; Pike, MC; Rothstein, JH; Sellers, TA; Sieh, W; Stram, D; Thompson, PJ; Vierkant, RA; Wicklund, KG; Wu, AH; Ziogas, A; Tworoger, SS; Schildkraut, JM; , on behalf of the Ovarian Cancer Association Consortium,
MLA Citation
Clyde, MA, Palmieri Weber, R, Iversen, ES, Poole, EM, Doherty, JA, Goodman, MT, Ness, RB, Risch, HA, Rossing, MA, Terry, KL, Wentzensen, N, Whittemore, AS, Anton-Culver, H, Bandera, EV, Berchuck, A, Carney, ME, Cramer, DW, Cunningham, JM, Cushing-Haugen, KL, Edwards, RP, Fridley, BL, Goode, EL, Lurie, G, McGuire, V, Modugno, F, Moysich, KB, Olson, SH, Pearce, CL, Pike, MC, Rothstein, JH, Sellers, TA, Sieh, W, Stram, D, Thompson, PJ, Vierkant, RA, Wicklund, KG, Wu, AH, Ziogas, A, Tworoger, SS, Schildkraut, JM, , and on behalf of the Ovarian Cancer Association Consortium, . "Risk Prediction for Epithelial Ovarian Cancer in 11 United States-Based Case-Control Studies: Incorporation of Epidemiologic Risk Factors and 17 Confirmed Genetic Loci." American Journal of Epidemiology 184.8 (October 3, 2016): 579-589.
Website
http://hdl.handle.net/10161/12934
PMID
27698005
Source
epmc
Published In
American Journal of Epidemiology
Volume
184
Issue
8
Publish Date
2016
Start Page
579
End Page
589
DOI
10.1093/aje/kww091

Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer.

BACKGROUND:Regulatory T (Treg) cells, a subset of CD4+ T lymphocytes, are mediators of immunosuppression in cancer, and, thus, variants in genes encoding Treg cell immune molecules could be associated with ovarian cancer. METHODS:In a population of 15,596 epithelial ovarian cancer (EOC) cases and 23,236 controls, we measured genetic associations of 1,351 SNPs in Treg cell pathway genes with odds of ovarian cancer and tested pathway and gene-level associations, overall and by histotype, for the 25 genes, using the admixture likelihood (AML) method. The most significant single SNP associations were tested for correlation with expression levels in 44 ovarian cancer patients. RESULTS:The most significant global associations for all genes in the pathway were seen in endometrioid ( p = 0.082) and clear cell ( p = 0.083), with the most significant gene level association seen with TGFBR2 ( p = 0.001) and clear cell EOC. Gene associations with histotypes at p < 0.05 included: IL12 ( p = 0.005 and p = 0.008, serous and high-grade serous, respectively), IL8RA ( p = 0.035, endometrioid and mucinous), LGALS1 ( p = 0.03, mucinous), STAT5B ( p = 0.022, clear cell), TGFBR1 ( p = 0.021 endometrioid) and TGFBR2 ( p = 0.017 and p = 0.025, endometrioid and mucinous, respectively). CONCLUSIONS:Common inherited gene variation in Treg cell pathways shows some evidence of germline genetic contribution to odds of EOC that varies by histologic subtype and may be associated with mRNA expression of immune-complex receptor in EOC patients.

Authors
Hampras, SS; Sucheston-Campbell, LE; Cannioto, R; Chang-Claude, J; Modugno, F; Dörk, T; Hillemanns, P; Preus, L; Knutson, KL; Wallace, PK; Hong, C-C; Friel, G; Davis, W; Nesline, M; Pearce, CL; Kelemen, LE; Goodman, MT; Bandera, EV; Terry, KL; Schoof, N; Eng, KH; Clay, A; Singh, PK; Joseph, JM; Aben, KKH; Anton-Culver, H; Antonenkova, N; Baker, H; Bean, Y; Beckmann, MW; Bisogna, M; Bjorge, L; Bogdanova, N; Brinton, LA; Brooks-Wilson, A; Bruinsma, F; Butzow, R; Campbell, IG; Carty, K; Cook, LS; Cramer, DW; Cybulski, C; Dansonka-Mieszkowska, A; Dennis, J; Despierre, E; Dicks, E; Doherty, JA; du Bois, A; Dürst, M; Easton, D; Eccles, D; Edwards, RP; Ekici, AB; Fasching, PA; Fridley, BL; Gao, Y-T; Gentry-Maharaj, A; Giles, GG; Glasspool, R; Gronwald, J; Harrington, P; Harter, P; Hasmad, HN; Hein, A; Heitz, F; Hildebrandt, MAT; Hogdall, C; Hogdall, E; Hosono, S; Iversen, ES; Jakubowska, A; Jensen, A; Ji, B-T; Karlan, BY; Kellar, M; Kelley, JL; Kiemeney, LA; Klapdor, R; Kolomeyevskaya, N; Krakstad, C; Kjaer, SK; Kruszka, B; Kupryjanczyk, J; Lambrechts, D; Lambrechts, S; Le, ND; Lee, AW; Lele, S; Leminen, A; Lester, J; Levine, DA; Liang, D; Lissowska, J; Liu, S; Lu, K; Lubinski, J; Lundvall, L; Massuger, LFAG; Matsuo, K; McGuire, V; McLaughlin, JR; McNeish, I; Menon, U; Moes-Sosnowska, J; Narod, SA; Nedergaard, L; Nevanlinna, H; Nickels, S; Olson, SH; Orlow, I; Weber, RP; Paul, J; Pejovic, T; Pelttari, LM; Perkins, B; Permuth-Wey, J; Pike, MC; Plisiecka-Halasa, J; Poole, EM; Risch, HA; Rossing, MA; Rothstein, JH; Rudolph, A; Runnebaum, IB; Rzepecka, IK; Salvesen, HB; Schernhammer, E; Schmitt, K; Schwaab, I; Shu, X-O; Shvetsov, YB; Siddiqui, N; Sieh, W; Song, H; Southey, MC; Tangen, IL; Teo, S-H; Thompson, PJ; Timorek, A; Tsai, Y-Y; Tworoger, SS; Tyrer, J; van Altena, AM; Vergote, I; Vierkant, RA; Walsh, C; Wang-Gohrke, S; Wentzensen, N; Whittemore, AS; Wicklund, KG; Wilkens, LR; Wu, AH; Wu, X; Woo, Y-L; Yang, H; Zheng, W; Ziogas, A; Gayther, SA; Ramus, SJ; Sellers, TA; Schildkraut, JM; Phelan, CM; Berchuck, A; Chenevix-Trench, G; Cunningham, JM; Pharoah, PP; Ness, RB; Odunsi, K; Goode, EL; Moysich, KB
MLA Citation
Hampras, SS, Sucheston-Campbell, LE, Cannioto, R, Chang-Claude, J, Modugno, F, Dörk, T, Hillemanns, P, Preus, L, Knutson, KL, Wallace, PK, Hong, C-C, Friel, G, Davis, W, Nesline, M, Pearce, CL, Kelemen, LE, Goodman, MT, Bandera, EV, Terry, KL, Schoof, N, Eng, KH, Clay, A, Singh, PK, Joseph, JM, Aben, KKH, Anton-Culver, H, Antonenkova, N, Baker, H, Bean, Y, Beckmann, MW, Bisogna, M, Bjorge, L, Bogdanova, N, Brinton, LA, Brooks-Wilson, A, Bruinsma, F, Butzow, R, Campbell, IG, Carty, K, Cook, LS, Cramer, DW, Cybulski, C, Dansonka-Mieszkowska, A, Dennis, J, Despierre, E, Dicks, E, Doherty, JA, du Bois, A, Dürst, M, Easton, D, Eccles, D, Edwards, RP, Ekici, AB, Fasching, PA, Fridley, BL, Gao, Y-T, Gentry-Maharaj, A, Giles, GG, Glasspool, R, Gronwald, J, Harrington, P, Harter, P, Hasmad, HN, Hein, A, Heitz, F, Hildebrandt, MAT, Hogdall, C, Hogdall, E, Hosono, S, Iversen, ES, Jakubowska, A, Jensen, A, Ji, B-T, Karlan, BY, Kellar, M, Kelley, JL, Kiemeney, LA, Klapdor, R, Kolomeyevskaya, N, Krakstad, C, Kjaer, SK, Kruszka, B, Kupryjanczyk, J, Lambrechts, D, Lambrechts, S, Le, ND, Lee, AW, Lele, S, Leminen, A, Lester, J, Levine, DA, Liang, D, Lissowska, J, Liu, S, Lu, K, Lubinski, J, Lundvall, L, Massuger, LFAG, Matsuo, K, McGuire, V, McLaughlin, JR, McNeish, I, Menon, U, Moes-Sosnowska, J, Narod, SA, Nedergaard, L, Nevanlinna, H, Nickels, S, Olson, SH, Orlow, I, Weber, RP, Paul, J, Pejovic, T, Pelttari, LM, Perkins, B, Permuth-Wey, J, Pike, MC, Plisiecka-Halasa, J, Poole, EM, Risch, HA, Rossing, MA, Rothstein, JH, Rudolph, A, Runnebaum, IB, Rzepecka, IK, Salvesen, HB, Schernhammer, E, Schmitt, K, Schwaab, I, Shu, X-O, Shvetsov, YB, Siddiqui, N, Sieh, W, Song, H, Southey, MC, Tangen, IL, Teo, S-H, Thompson, PJ, Timorek, A, Tsai, Y-Y, Tworoger, SS, Tyrer, J, van Altena, AM, Vergote, I, Vierkant, RA, Walsh, C, Wang-Gohrke, S, Wentzensen, N, Whittemore, AS, Wicklund, KG, Wilkens, LR, Wu, AH, Wu, X, Woo, Y-L, Yang, H, Zheng, W, Ziogas, A, Gayther, SA, Ramus, SJ, Sellers, TA, Schildkraut, JM, Phelan, CM, Berchuck, A, Chenevix-Trench, G, Cunningham, JM, Pharoah, PP, Ness, RB, Odunsi, K, Goode, EL, and Moysich, KB. "Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer." Oncotarget 7.43 (October 2016): 69097-69110.
PMID
27533245
Source
epmc
Published In
Oncotarget
Volume
7
Issue
43
Publish Date
2016
Start Page
69097
End Page
69110
DOI
10.18632/oncotarget.10215

Association of vitamin D levels and risk of ovarian cancer: a Mendelian randomization study.

In vitro and observational epidemiological studies suggest that vitamin D may play a role in cancer prevention. However, the relationship between vitamin D and ovarian cancer is uncertain, with observational studies generating conflicting findings. A potential limitation of observational studies is inadequate control of confounding. To overcome this problem, we used Mendelian randomization (MR) to evaluate the association between single nucleotide polymorphisms (SNPs) associated with circulating 25-hydroxyvitamin D [25(OH)D] concentration and risk of ovarian cancer.We employed SNPs with well-established associations with 25(OH)D concentration as instrumental variables for MR: rs7944926 (DHCR7), rs12794714 (CYP2R1) and rs2282679 (GC). We included 31 719 women of European ancestry (10 065 cases, 21 654 controls) from the Ovarian Cancer Association Consortium, who were genotyped using customized Illumina Infinium iSelect (iCOGS) arrays. A two-sample (summary data) MR approach was used and analyses were performed separately for all ovarian cancer (10 065 cases) and for high-grade serous ovarian cancer (4121 cases).The odds ratio for epithelial ovarian cancer risk (10 065 cases) estimated by combining the individual SNP associations using inverse variance weighting was 1.27 (95% confidence interval: 1.06 to 1.51) per 20 nmol/L decrease in 25(OH)D concentration. The estimated odds ratio for high-grade serous epithelial ovarian cancer (4121 cases) was 1.54 (1.19, 2.01).Genetically lowered 25-hydroxyvitamin D concentrations were associated with higher ovarian cancer susceptibility in Europeans. These findings suggest that increasing plasma vitamin D levels may reduce risk of ovarian cancer.

Authors
Ong, J-S; Cuellar-Partida, G; Lu, Y; Australian Ovarian Cancer Study, ; Fasching, PA; Hein, A; Burghaus, S; Beckmann, MW; Lambrechts, D; Van Nieuwenhuysen, E; Vergote, I; Vanderstichele, A; Anne Doherty, J; Anne Rossing, M; Chang-Claude, J; Eilber, U; Rudolph, A; Wang-Gohrke, S; Goodman, MT; Bogdanova, N; Dörk, T; Dürst, M; Hillemanns, P; Runnebaum, IB; Antonenkova, N; Butzow, R; Leminen, A; Nevanlinna, H; Pelttari, LM; Edwards, RP; Kelley, JL; Modugno, F; Moysich, KB; Ness, RB; Cannioto, R; Høgdall, E; Høgdall, CK; Jensen, A; Giles, GG; Bruinsma, F; Kjaer, SK; Hildebrandt, MA; Liang, D; Lu, KH; Wu, X; Bisogna, M; Dao, F; Levine, DA; Cramer, DW; Terry, KL; Tworoger, SS; Stampfer, M; Missmer, S; Bjorge, L; Salvesen, HB; Kopperud, RK; Bischof, K; Aben, KK; Kiemeney, LA; Massuger, LF; Brooks-Wilson, A; Olson, SH; McGuire, V; Rothstein, JH; Sieh, W; Whittemore, AS; Cook, LS; Le, ND; Gilks, CB; Gronwald, J; Jakubowska, A; Lubiński, J; Kluz, T; Song, H; Tyrer, JP; Wentzensen, N; Brinton, L; Trabert, B; Lissowska, J; McLaughlin, JR; Narod, SA; Phelan, C; Anton-Culver, H; Ziogas, A; Eccles, D; Campbell, I; Gayther, SA; Gentry-Maharaj, A; Menon, U; Ramus, SJ; Wu, AH; Dansonka-Mieszkowska, A; Kupryjanczyk, J; Timorek, A; Szafron, L; Cunningham, JM; Fridley, BL; Winham, SJ; Bandera, EV; Poole, EM; Morgan, TK; Risch, HA; Goode, EL; Schildkraut, JM; Pearce, CL; Berchuck, A; Pharoah, PD; Chenevix-Trench, G; Gharahkhani, P; Neale, RE; Webb, PM; MacGregor, S
MLA Citation
Ong, J-S, Cuellar-Partida, G, Lu, Y, Australian Ovarian Cancer Study, , Fasching, PA, Hein, A, Burghaus, S, Beckmann, MW, Lambrechts, D, Van Nieuwenhuysen, E, Vergote, I, Vanderstichele, A, Anne Doherty, J, Anne Rossing, M, Chang-Claude, J, Eilber, U, Rudolph, A, Wang-Gohrke, S, Goodman, MT, Bogdanova, N, Dörk, T, Dürst, M, Hillemanns, P, Runnebaum, IB, Antonenkova, N, Butzow, R, Leminen, A, Nevanlinna, H, Pelttari, LM, Edwards, RP, Kelley, JL, Modugno, F, Moysich, KB, Ness, RB, Cannioto, R, Høgdall, E, Høgdall, CK, Jensen, A, Giles, GG, Bruinsma, F, Kjaer, SK, Hildebrandt, MA, Liang, D, Lu, KH, Wu, X, Bisogna, M, Dao, F, Levine, DA, Cramer, DW, Terry, KL, Tworoger, SS, Stampfer, M, Missmer, S, Bjorge, L, Salvesen, HB, Kopperud, RK, Bischof, K, Aben, KK, Kiemeney, LA, Massuger, LF, Brooks-Wilson, A, Olson, SH, McGuire, V, Rothstein, JH, Sieh, W, Whittemore, AS, Cook, LS, Le, ND, Gilks, CB, Gronwald, J, Jakubowska, A, Lubiński, J, Kluz, T, Song, H, Tyrer, JP, Wentzensen, N, Brinton, L, Trabert, B, Lissowska, J, McLaughlin, JR, Narod, SA, Phelan, C, Anton-Culver, H, Ziogas, A, Eccles, D, Campbell, I, Gayther, SA, Gentry-Maharaj, A, Menon, U, Ramus, SJ, Wu, AH, Dansonka-Mieszkowska, A, Kupryjanczyk, J, Timorek, A, Szafron, L, Cunningham, JM, Fridley, BL, Winham, SJ, Bandera, EV, Poole, EM, Morgan, TK, Risch, HA, Goode, EL, Schildkraut, JM, Pearce, CL, Berchuck, A, Pharoah, PD, Chenevix-Trench, G, Gharahkhani, P, Neale, RE, Webb, PM, and MacGregor, S. "Association of vitamin D levels and risk of ovarian cancer: a Mendelian randomization study." International Journal of Epidemiology 45.5 (October 2016): 1619-1630.
PMID
27594614
Source
epmc
Published In
International Journal of Epidemiology
Volume
45
Issue
5
Publish Date
2016
Start Page
1619
End Page
1630
DOI
10.1093/ije/dyw207

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.

A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10(-20)), ER-negative BC (P=1.1 × 10(-13)), BRCA1-associated BC (P=7.7 × 10(-16)) and triple negative BC (P-diff=2 × 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10(-3)) and ABHD8 (P<2 × 10(-3)). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3'-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk.

Authors
Lawrenson, K; Kar, S; McCue, K; Kuchenbaeker, K; Michailidou, K; Tyrer, J; Beesley, J; Ramus, SJ; Li, Q; Delgado, MK; Lee, JM; Aittomäki, K; Andrulis, IL; Anton-Culver, H; Arndt, V; Arun, BK; Arver, B; Bandera, EV; Barile, M; Barkardottir, RB; Barrowdale, D; Beckmann, MW; Benitez, J; Berchuck, A; Bisogna, M; Bjorge, L; Blomqvist, C; Blot, W; Bogdanova, N; Bojesen, A; Bojesen, SE; Bolla, MK; Bonanni, B; Børresen-Dale, A-L; Brauch, H; Brennan, P; Brenner, H; Bruinsma, F; Brunet, J; Buhari, SA; Burwinkel, B; Butzow, R; Buys, SS; Cai, Q; Caldes, T; Campbell, I; Canniotto, R; Chang-Claude, J; Chiquette, J; Choi, J-Y; Claes, KBM; GEMO Study Collaborators, ; Cook, LS; Cox, A; Cramer, DW; Cross, SS; Cybulski, C; Czene, K; Daly, MB; Damiola, F; Dansonka-Mieszkowska, A; Darabi, H; Dennis, J; Devilee, P; Diez, O; Doherty, JA; Domchek, SM; Dorfling, CM; Dörk, T; Dumont, M; Ehrencrona, H; Ejlertsen, B; Ellis, S; EMBRACE, ; Engel, C; Lee, E; Evans, DG; Fasching, PA; Feliubadalo, L; Figueroa, J; Flesch-Janys, D; Fletcher, O; Flyger, H; Foretova, L; Fostira, F; Foulkes, WD; Fridley, BL; Friedman, E; Frost, D; Gambino, G; Ganz, PA; Garber, J; García-Closas, M; Gentry-Maharaj, A; Ghoussaini, M; Giles, GG; Glasspool, R; Godwin, AK; Goldberg, MS; Goldgar, DE; González-Neira, A; Goode, EL; Goodman, MT; Greene, MH; Gronwald, J; Guénel, P; Haiman, CA; Hall, P; Hallberg, E; Hamann, U; Hansen, TVO; Harrington, PA; Hartman, M; Hassan, N; Healey, S; Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), ; Heitz, F; Herzog, J; Høgdall, E; Høgdall, CK; Hogervorst, FBL; Hollestelle, A; Hopper, JL; Hulick, PJ; Huzarski, T; Imyanitov, EN; KConFab Investigators, ; Australian Ovarian Cancer Study Group, ; Isaacs, C; Ito, H; Jakubowska, A; Janavicius, R; Jensen, A; John, EM; Johnson, N; Kabisch, M; Kang, D; Kapuscinski, M; Karlan, BY; Khan, S; Kiemeney, LA; Kjaer, SK; Knight, JA; Konstantopoulou, I; Kosma, V-M; Kristensen, V; Kupryjanczyk, J; Kwong, A; de la Hoya, M; Laitman, Y; Lambrechts, D; Le, N; De Leeneer, K; Lester, J; Levine, DA; Li, J; Lindblom, A; Long, J; Lophatananon, A; Loud, JT; Lu, K; Lubinski, J; Mannermaa, A; Manoukian, S; Le Marchand, L; Margolin, S; Marme, F; Massuger, LFAG; Matsuo, K; Mazoyer, S; McGuffog, L; McLean, C; McNeish, I; Meindl, A; Menon, U; Mensenkamp, AR; Milne, RL; Montagna, M; Moysich, KB; Muir, K; Mulligan, AM; Nathanson, KL; Ness, RB; Neuhausen, SL; Nevanlinna, H; Nord, S; Nussbaum, RL; Odunsi, K; Offit, K; Olah, E; Olopade, OI; Olson, JE; Olswold, C; O'Malley, D; Orlow, I; Orr, N; Osorio, A; Park, SK; Pearce, CL; Pejovic, T; Peterlongo, P; Pfeiler, G; Phelan, CM; Poole, EM; Pylkäs, K; Radice, P; Rantala, J; Rashid, MU; Rennert, G; Rhenius, V; Rhiem, K; Risch, HA; Rodriguez, G; Rossing, MA; Rudolph, A; Salvesen, HB; Sangrajrang, S; Sawyer, EJ; Schildkraut, JM; Schmidt, MK; Schmutzler, RK; Sellers, TA; Seynaeve, C; Shah, M; Shen, C-Y; Shu, X-O; Sieh, W; Singer, CF; Sinilnikova, OM; Slager, S; Song, H; Soucy, P; Southey, MC; Stenmark-Askmalm, M; Stoppa-Lyonnet, D; Sutter, C; Swerdlow, A; Tchatchou, S; Teixeira, MR; Teo, SH; Terry, KL; Terry, MB; Thomassen, M; Tibiletti, MG; Tihomirova, L; Tognazzo, S; Toland, AE; Tomlinson, I; Torres, D; Truong, T; Tseng, C-C; Tung, N; Tworoger, SS; Vachon, C; van den Ouweland, AMW; van Doorn, HC; van Rensburg, EJ; Van't Veer, LJ; Vanderstichele, A; Vergote, I; Vijai, J; Wang, Q; Wang-Gohrke, S; Weitzel, JN; Wentzensen, N; Whittemore, AS; Wildiers, H; Winqvist, R; Wu, AH; Yannoukakos, D; Yoon, S-Y; Yu, J-C; Zheng, W; Zheng, Y; Khanna, KK; Simard, J; Monteiro, AN; French, JD; Couch, FJ; Freedman, ML; Easton, DF; Dunning, AM; Pharoah, PD; Edwards, SL; Chenevix-Trench, G; Antoniou, AC; Gayther, SA
MLA Citation
Lawrenson, K, Kar, S, McCue, K, Kuchenbaeker, K, Michailidou, K, Tyrer, J, Beesley, J, Ramus, SJ, Li, Q, Delgado, MK, Lee, JM, Aittomäki, K, Andrulis, IL, Anton-Culver, H, Arndt, V, Arun, BK, Arver, B, Bandera, EV, Barile, M, Barkardottir, RB, Barrowdale, D, Beckmann, MW, Benitez, J, Berchuck, A, Bisogna, M, Bjorge, L, Blomqvist, C, Blot, W, Bogdanova, N, Bojesen, A, Bojesen, SE, Bolla, MK, Bonanni, B, Børresen-Dale, A-L, Brauch, H, Brennan, P, Brenner, H, Bruinsma, F, Brunet, J, Buhari, SA, Burwinkel, B, Butzow, R, Buys, SS, Cai, Q, Caldes, T, Campbell, I, Canniotto, R, Chang-Claude, J, Chiquette, J, Choi, J-Y, Claes, KBM, GEMO Study Collaborators, , Cook, LS, Cox, A, Cramer, DW, Cross, SS, Cybulski, C, Czene, K, Daly, MB, Damiola, F, Dansonka-Mieszkowska, A, Darabi, H, Dennis, J, Devilee, P, Diez, O, Doherty, JA, Domchek, SM, Dorfling, CM, Dörk, T, Dumont, M, Ehrencrona, H, Ejlertsen, B, Ellis, S, EMBRACE, , Engel, C, Lee, E, Evans, DG, Fasching, PA, Feliubadalo, L, Figueroa, J, Flesch-Janys, D, Fletcher, O, Flyger, H, Foretova, L, Fostira, F, Foulkes, WD, Fridley, BL, Friedman, E, Frost, D, Gambino, G, Ganz, PA, Garber, J, García-Closas, M, Gentry-Maharaj, A, Ghoussaini, M, Giles, GG, Glasspool, R, Godwin, AK, Goldberg, MS, Goldgar, DE, González-Neira, A, Goode, EL, Goodman, MT, Greene, MH, Gronwald, J, Guénel, P, Haiman, CA, Hall, P, Hallberg, E, Hamann, U, Hansen, TVO, Harrington, PA, Hartman, M, Hassan, N, Healey, S, Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), , Heitz, F, Herzog, J, Høgdall, E, Høgdall, CK, Hogervorst, FBL, Hollestelle, A, Hopper, JL, Hulick, PJ, Huzarski, T, Imyanitov, EN, KConFab Investigators, , Australian Ovarian Cancer Study Group, , Isaacs, C, Ito, H, Jakubowska, A, Janavicius, R, Jensen, A, John, EM, Johnson, N, Kabisch, M, Kang, D, Kapuscinski, M, Karlan, BY, Khan, S, Kiemeney, LA, Kjaer, SK, Knight, JA, Konstantopoulou, I, Kosma, V-M, Kristensen, V, Kupryjanczyk, J, Kwong, A, de la Hoya, M, Laitman, Y, Lambrechts, D, Le, N, De Leeneer, K, Lester, J, Levine, DA, Li, J, Lindblom, A, Long, J, Lophatananon, A, Loud, JT, Lu, K, Lubinski, J, Mannermaa, A, Manoukian, S, Le Marchand, L, Margolin, S, Marme, F, Massuger, LFAG, Matsuo, K, Mazoyer, S, McGuffog, L, McLean, C, McNeish, I, Meindl, A, Menon, U, Mensenkamp, AR, Milne, RL, Montagna, M, Moysich, KB, Muir, K, Mulligan, AM, Nathanson, KL, Ness, RB, Neuhausen, SL, Nevanlinna, H, Nord, S, Nussbaum, RL, Odunsi, K, Offit, K, Olah, E, Olopade, OI, Olson, JE, Olswold, C, O'Malley, D, Orlow, I, Orr, N, Osorio, A, Park, SK, Pearce, CL, Pejovic, T, Peterlongo, P, Pfeiler, G, Phelan, CM, Poole, EM, Pylkäs, K, Radice, P, Rantala, J, Rashid, MU, Rennert, G, Rhenius, V, Rhiem, K, Risch, HA, Rodriguez, G, Rossing, MA, Rudolph, A, Salvesen, HB, Sangrajrang, S, Sawyer, EJ, Schildkraut, JM, Schmidt, MK, Schmutzler, RK, Sellers, TA, Seynaeve, C, Shah, M, Shen, C-Y, Shu, X-O, Sieh, W, Singer, CF, Sinilnikova, OM, Slager, S, Song, H, Soucy, P, Southey, MC, Stenmark-Askmalm, M, Stoppa-Lyonnet, D, Sutter, C, Swerdlow, A, Tchatchou, S, Teixeira, MR, Teo, SH, Terry, KL, Terry, MB, Thomassen, M, Tibiletti, MG, Tihomirova, L, Tognazzo, S, Toland, AE, Tomlinson, I, Torres, D, Truong, T, Tseng, C-C, Tung, N, Tworoger, SS, Vachon, C, van den Ouweland, AMW, van Doorn, HC, van Rensburg, EJ, Van't Veer, LJ, Vanderstichele, A, Vergote, I, Vijai, J, Wang, Q, Wang-Gohrke, S, Weitzel, JN, Wentzensen, N, Whittemore, AS, Wildiers, H, Winqvist, R, Wu, AH, Yannoukakos, D, Yoon, S-Y, Yu, J-C, Zheng, W, Zheng, Y, Khanna, KK, Simard, J, Monteiro, AN, French, JD, Couch, FJ, Freedman, ML, Easton, DF, Dunning, AM, Pharoah, PD, Edwards, SL, Chenevix-Trench, G, Antoniou, AC, and Gayther, SA. "Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus." Nature Communications 7 (September 7, 2016): 12675-null.
PMID
27601076
Source
epmc
Published In
Nature Communications
Volume
7
Publish Date
2016
Start Page
12675
DOI
10.1038/ncomms12675

Chronic Recreational Physical Inactivity and Epithelial Ovarian Cancer Risk: Evidence from the Ovarian Cancer Association Consortium

Authors
Cannioto, R; LaMonte, MJ; Risch, HA; Hong, CC; Sucheston-Campbell, LE; Eng, KH; Szender, JB; Chang-Claude, J; Schmalfeldt, B; Klapdor, R; Gower, E; Minlikeeva, AN; Zirpoli, G; Bandera, EV; Berchuck, A; Cramer, D; Doherty, JA; Edwards, RP; Fridley, BL; Goode, EL; Goodman, MT; Hogdall, E; Hosono, S; Jensen, A; Jordan, S; Kjaer, SK; Matsuo, K; Ness, RB; Olsen, CM; Olson, SH; Pearce, CL; Pike, MC; Rossing, MA; Szamreta, EA; Thompson, PJ; Tseng, CC; Vierkant, RA; Webb, PM; Wentzensen, N; Wicklund, KG; Winham, SJ; Wu, AH; Modugno, F; Schildkraut, JM; Terry, KL; Kelemen, LE; Moysich, KB
MLA Citation
Cannioto, R, LaMonte, MJ, Risch, HA, Hong, CC, Sucheston-Campbell, LE, Eng, KH, Szender, JB, Chang-Claude, J, Schmalfeldt, B, Klapdor, R, Gower, E, Minlikeeva, AN, Zirpoli, G, Bandera, EV, Berchuck, A, Cramer, D, Doherty, JA, Edwards, RP, Fridley, BL, Goode, EL, Goodman, MT, Hogdall, E, Hosono, S, Jensen, A, Jordan, S, Kjaer, SK, Matsuo, K, Ness, RB, Olsen, CM, Olson, SH, Pearce, CL, Pike, MC, Rossing, MA, Szamreta, EA, Thompson, PJ, Tseng, CC, Vierkant, RA, Webb, PM, Wentzensen, N, Wicklund, KG, Winham, SJ, Wu, AH, Modugno, F, Schildkraut, JM, Terry, KL, Kelemen, LE, and Moysich, KB. "Chronic Recreational Physical Inactivity and Epithelial Ovarian Cancer Risk: Evidence from the Ovarian Cancer Association Consortium." Obstetrical and Gynecological Survey 71.9 (September 1, 2016): 528-530.
Source
scopus
Published In
Obstetrical & Gynecological Survey
Volume
71
Issue
9
Publish Date
2016
Start Page
528
End Page
530
DOI
10.1097/OGX.0000000000000357

Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types.

Breast, ovarian, and prostate cancers are hormone-related and may have a shared genetic basis, but this has not been investigated systematically by genome-wide association (GWA) studies. Meta-analyses combining the largest GWA meta-analysis data sets for these cancers totaling 112,349 cases and 116,421 controls of European ancestry, all together and in pairs, identified at P < 10(-8) seven new cross-cancer loci: three associated with susceptibility to all three cancers (rs17041869/2q13/BCL2L11; rs7937840/11q12/INCENP; rs1469713/19p13/GATAD2A), two breast and ovarian cancer risk loci (rs200182588/9q31/SMC2; rs8037137/15q26/RCCD1), and two breast and prostate cancer risk loci (rs5013329/1p34/NSUN4; rs9375701/6q23/L3MBTL3). Index variants in five additional regions previously associated with only one cancer also showed clear association with a second cancer type. Cell-type-specific expression quantitative trait locus and enhancer-gene interaction annotations suggested target genes with potential cross-cancer roles at the new loci. Pathway analysis revealed significant enrichment of death receptor signaling genes near loci with P < 10(-5) in the three-cancer meta-analysis.We demonstrate that combining large-scale GWA meta-analysis findings across cancer types can identify completely new risk loci common to breast, ovarian, and prostate cancers. We show that the identification of such cross-cancer risk loci has the potential to shed new light on the shared biology underlying these hormone-related cancers. Cancer Discov; 6(9); 1052-67. ©2016 AACR.This article is highlighted in the In This Issue feature, p. 932.

Authors
Kar, SP; Beesley, J; Amin Al Olama, A; Michailidou, K; Tyrer, J; Kote-Jarai, Z; Lawrenson, K; Lindstrom, S; Ramus, SJ; Thompson, DJ; ABCTB Investigators, ; Kibel, AS; Dansonka-Mieszkowska, A; Michael, A; Dieffenbach, AK; Gentry-Maharaj, A; Whittemore, AS; Wolk, A; Monteiro, A; Peixoto, A; Kierzek, A; Cox, A; Rudolph, A; Gonzalez-Neira, A; Wu, AH; Lindblom, A; Swerdlow, A; AOCS Study Group & Australian Cancer Study (Ovarian Cancer), ; APCB BioResource, ; Ziogas, A; Ekici, AB; Burwinkel, B; Karlan, BY; Nordestgaard, BG; Blomqvist, C; Phelan, C; McLean, C; Pearce, CL; Vachon, C; Cybulski, C; Slavov, C; Stegmaier, C; Maier, C; Ambrosone, CB; Høgdall, CK; Teerlink, CC; Kang, D; Tessier, DC; Schaid, DJ; Stram, DO; Cramer, DW; Neal, DE; Eccles, D; Flesch-Janys, D; Edwards, DRV; Wokozorczyk, D; Levine, DA; Yannoukakos, D; Sawyer, EJ; Bandera, EV; Poole, EM; Goode, EL; Khusnutdinova, E; Høgdall, E; Song, F; Bruinsma, F; Heitz, F; Modugno, F; Hamdy, FC; Wiklund, F; Giles, GG; Olsson, H; Wildiers, H; Ulmer, H-U; Pandha, H; Risch, HA; Darabi, H; Salvesen, HB; Nevanlinna, H; Gronberg, H; Brenner, H; Brauch, H; Anton-Culver, H; Song, H; Lim, H-Y; McNeish, I; Campbell, I; Vergote, I; Gronwald, J; Lubiński, J; Stanford, JL; Benítez, J; Doherty, JA; Permuth, JB; Chang-Claude, J; Donovan, JL; Dennis, J; Schildkraut, JM; Schleutker, J; Hopper, JL; Kupryjanczyk, J; Park, JY; Figueroa, J; Clements, JA; Knight, JA; Peto, J; Cunningham, JM; Pow-Sang, J; Batra, J; Czene, K; Lu, KH; Herkommer, K; Khaw, K-T; kConFab Investigators, ; Matsuo, K; Muir, K; Offitt, K; Chen, K; Moysich, KB; Aittomäki, K; Odunsi, K; Kiemeney, LA; Massuger, LFAG; Fitzgerald, LM; Cook, LS; Cannon-Albright, L; Hooning, MJ; Pike, MC; Bolla, MK; Luedeke, M; Teixeira, MR; Goodman, MT; Schmidt, MK; Riggan, M; Aly, M; Rossing, MA; Beckmann, MW; Moisse, M; Sanderson, M; Southey, MC; Jones, M; Lush, M; Hildebrandt, MAT; Hou, M-F; Schoemaker, MJ; Garcia-Closas, M; Bogdanova, N; Rahman, N; NBCS Investigators, ; Le, ND; Orr, N; Wentzensen, N; Pashayan, N; Peterlongo, P; Guénel, P; Brennan, P; Paulo, P; Webb, PM; Broberg, P; Fasching, PA; Devilee, P; Wang, Q; Cai, Q; Li, Q; Kaneva, R; Butzow, R; Kopperud, RK; Schmutzler, RK; Stephenson, RA; MacInnis, RJ; Hoover, RN; Winqvist, R; Ness, R; Milne, RL; Travis, RC; Benlloch, S; Olson, SH; McDonnell, SK; Tworoger, SS; Maia, S; Berndt, S; Lee, SC; Teo, S-H; Thibodeau, SN; Bojesen, SE; Gapstur, SM; Kjær, SK; Pejovic, T; Tammela, TLJ; GENICA Network, ; PRACTICAL consortium, ; Dörk, T; Brüning, T; Wahlfors, T; Key, TJ; Edwards, TL; Menon, U; Hamann, U; Mitev, V; Kosma, V-M; Setiawan, VW; Kristensen, V; Arndt, V; Vogel, W; Zheng, W; Sieh, W; Blot, WJ; Kluzniak, W; Shu, X-O; Gao, Y-T; Schumacher, F; Freedman, ML; Berchuck, A; Dunning, AM; Simard, J; Haiman, CA; Spurdle, A; Sellers, TA; Hunter, DJ; Henderson, BE; Kraft, P; Chanock, SJ; Couch, FJ; Hall, P; Gayther, SA; Easton, DF; Chenevix-Trench, G; Eeles, R; Pharoah, PDP; Lambrechts, D
MLA Citation
Kar, SP, Beesley, J, Amin Al Olama, A, Michailidou, K, Tyrer, J, Kote-Jarai, Z, Lawrenson, K, Lindstrom, S, Ramus, SJ, Thompson, DJ, ABCTB Investigators, , Kibel, AS, Dansonka-Mieszkowska, A, Michael, A, Dieffenbach, AK, Gentry-Maharaj, A, Whittemore, AS, Wolk, A, Monteiro, A, Peixoto, A, Kierzek, A, Cox, A, Rudolph, A, Gonzalez-Neira, A, Wu, AH, Lindblom, A, Swerdlow, A, AOCS Study Group & Australian Cancer Study (Ovarian Cancer), , APCB BioResource, , Ziogas, A, Ekici, AB, Burwinkel, B, Karlan, BY, Nordestgaard, BG, Blomqvist, C, Phelan, C, McLean, C, Pearce, CL, Vachon, C, Cybulski, C, Slavov, C, Stegmaier, C, Maier, C, Ambrosone, CB, Høgdall, CK, Teerlink, CC, Kang, D, Tessier, DC, Schaid, DJ, Stram, DO, Cramer, DW, Neal, DE, Eccles, D, Flesch-Janys, D, Edwards, DRV, Wokozorczyk, D, Levine, DA, Yannoukakos, D, Sawyer, EJ, Bandera, EV, Poole, EM, Goode, EL, Khusnutdinova, E, Høgdall, E, Song, F, Bruinsma, F, Heitz, F, Modugno, F, Hamdy, FC, Wiklund, F, Giles, GG, Olsson, H, Wildiers, H, Ulmer, H-U, Pandha, H, Risch, HA, Darabi, H, Salvesen, HB, Nevanlinna, H, Gronberg, H, Brenner, H, Brauch, H, Anton-Culver, H, Song, H, Lim, H-Y, McNeish, I, Campbell, I, Vergote, I, Gronwald, J, Lubiński, J, Stanford, JL, Benítez, J, Doherty, JA, Permuth, JB, Chang-Claude, J, Donovan, JL, Dennis, J, Schildkraut, JM, Schleutker, J, Hopper, JL, Kupryjanczyk, J, Park, JY, Figueroa, J, Clements, JA, Knight, JA, Peto, J, Cunningham, JM, Pow-Sang, J, Batra, J, Czene, K, Lu, KH, Herkommer, K, Khaw, K-T, kConFab Investigators, , Matsuo, K, Muir, K, Offitt, K, Chen, K, Moysich, KB, Aittomäki, K, Odunsi, K, Kiemeney, LA, Massuger, LFAG, Fitzgerald, LM, Cook, LS, Cannon-Albright, L, Hooning, MJ, Pike, MC, Bolla, MK, Luedeke, M, Teixeira, MR, Goodman, MT, Schmidt, MK, Riggan, M, Aly, M, Rossing, MA, Beckmann, MW, Moisse, M, Sanderson, M, Southey, MC, Jones, M, Lush, M, Hildebrandt, MAT, Hou, M-F, Schoemaker, MJ, Garcia-Closas, M, Bogdanova, N, Rahman, N, NBCS Investigators, , Le, ND, Orr, N, Wentzensen, N, Pashayan, N, Peterlongo, P, Guénel, P, Brennan, P, Paulo, P, Webb, PM, Broberg, P, Fasching, PA, Devilee, P, Wang, Q, Cai, Q, Li, Q, Kaneva, R, Butzow, R, Kopperud, RK, Schmutzler, RK, Stephenson, RA, MacInnis, RJ, Hoover, RN, Winqvist, R, Ness, R, Milne, RL, Travis, RC, Benlloch, S, Olson, SH, McDonnell, SK, Tworoger, SS, Maia, S, Berndt, S, Lee, SC, Teo, S-H, Thibodeau, SN, Bojesen, SE, Gapstur, SM, Kjær, SK, Pejovic, T, Tammela, TLJ, GENICA Network, , PRACTICAL consortium, , Dörk, T, Brüning, T, Wahlfors, T, Key, TJ, Edwards, TL, Menon, U, Hamann, U, Mitev, V, Kosma, V-M, Setiawan, VW, Kristensen, V, Arndt, V, Vogel, W, Zheng, W, Sieh, W, Blot, WJ, Kluzniak, W, Shu, X-O, Gao, Y-T, Schumacher, F, Freedman, ML, Berchuck, A, Dunning, AM, Simard, J, Haiman, CA, Spurdle, A, Sellers, TA, Hunter, DJ, Henderson, BE, Kraft, P, Chanock, SJ, Couch, FJ, Hall, P, Gayther, SA, Easton, DF, Chenevix-Trench, G, Eeles, R, Pharoah, PDP, and Lambrechts, D. "Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types." Cancer Discovery 6.9 (September 2016): 1052-1067.
PMID
27432226
Source
epmc
Published In
Cancer Discovery
Volume
6
Issue
9
Publish Date
2016
Start Page
1052
End Page
1067
DOI
10.1158/2159-8290.CD-15-1227

Evaluating the Repertoire of Immune Checkpoint Markers Expressed Within Ovarian Cancers

Authors
Gaillard, S; Yi, J; Dumbauld, C; Ehrisman, J; Berchuck, A; Weinhold, K
MLA Citation
Gaillard, S, Yi, J, Dumbauld, C, Ehrisman, J, Berchuck, A, and Weinhold, K. "Evaluating the Repertoire of Immune Checkpoint Markers Expressed Within Ovarian Cancers." JOURNAL OF WOMENS HEALTH 25.9 (September 2016): 962-962.
Source
wos-lite
Published In
Journal of Women'S Health (2002)
Volume
25
Issue
9
Publish Date
2016
Start Page
962
End Page
962

Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk.

Rare and low frequency variants are not well covered in most germline genotyping arrays and are understudied in relation to epithelial ovarian cancer (EOC) risk. To address this gap, we used genotyping arrays targeting rarer protein-coding variation in 8,165 EOC cases and 11,619 controls from the international Ovarian Cancer Association Consortium (OCAC). Pooled association analyses were conducted at the variant and gene level for 98,543 variants directly genotyped through two exome genotyping projects. Only common variants that represent or are in strong linkage disequilibrium (LD) with previously-identified signals at established loci reached traditional thresholds for exome-wide significance (P < 5.0 × 10 -  7). One of the most significant signals (Pall histologies = 1.01 × 10 -  13;Pserous = 3.54 × 10 -  14) occurred at 3q25.31 for rs62273959, a missense variant mapping to the LEKR1 gene that is in LD (r2 = 0.90) with a previously identified 'best hit' (rs7651446) mapping to an intron of TIPARP. Suggestive associations (5.0 × 10 -  5 > P≥5.0 ×10 -  7) were detected for rare and low-frequency variants at 16 novel loci. Four rare missense variants were identified (ACTBL2 rs73757391 (5q11.2), BTD rs200337373 (3p25.1), KRT13 rs150321809 (17q21.2) and MC2R rs104894658 (18p11.21)), but only MC2R rs104894668 had a large effect size (OR = 9.66). Genes most strongly associated with EOC risk included ACTBL2 (PAML = 3.23 × 10 -  5; PSKAT-o = 9.23 × 10 -  4) and KRT13 (PAML = 1.67 × 10 -  4; PSKAT-o = 1.07 × 10 -  5), reaffirming variant-level analysis. In summary, this large study identified several rare and low-frequency variants and genes that may contribute to EOC susceptibility, albeit with possible small effects. Future studies that integrate epidemiology, sequencing, and functional assays are needed to further unravel the unexplained heritability and biology of this disease.

Authors
Permuth, JB; Pirie, A; Ann Chen, Y; Lin, H-Y; Reid, BM; Chen, Z; Monteiro, A; Dennis, J; Mendoza-Fandino, G; AOCS Study Group, ; Australian Cancer Study (Ovarian Cancer), ; Anton-Culver, H; Bandera, EV; Bisogna, M; Brinton, L; Brooks-Wilson, A; Carney, ME; Chenevix-Trench, G; Cook, LS; Cramer, DW; Cunningham, JM; Cybulski, C; D'Aloisio, AA; Anne Doherty, J; Earp, M; Edwards, RP; Fridley, BL; Gayther, SA; Gentry-Maharaj, A; Goodman, MT; Gronwald, J; Hogdall, E; Iversen, ES; Jakubowska, A; Jensen, A; Karlan, BY; Kelemen, LE; Kjaer, SK; Kraft, P; Le, ND; Levine, DA; Lissowska, J; Lubinski, J; Matsuo, K; Menon, U; Modugno, R; Moysich, KB; Nakanishi, T; Ness, RB; Olson, S; Orlow, I; Pearce, CL; Pejovic, T; Poole, EM; Ramus, SJ; Anne Rossing, M; Sandler, DP; Shu, X-O; Song, H; Taylor, JA; Teo, S-H; Terry, KL; Thompson, PJ; Tworoger, SS; Webb, PM; Wentzensen, N; Wilkens, LR; Winham, S; Woo, Y-L; Wu, AH; Yang, H; Zheng, W; Ziogas, A; Phelan, CM; Schildkraut, JM; Berchuck, A; Goode, EL; Pharoah, PDP; Sellers, TA; Ovarian Cancer Association Consortium,
MLA Citation
Permuth, JB, Pirie, A, Ann Chen, Y, Lin, H-Y, Reid, BM, Chen, Z, Monteiro, A, Dennis, J, Mendoza-Fandino, G, AOCS Study Group, , Australian Cancer Study (Ovarian Cancer), , Anton-Culver, H, Bandera, EV, Bisogna, M, Brinton, L, Brooks-Wilson, A, Carney, ME, Chenevix-Trench, G, Cook, LS, Cramer, DW, Cunningham, JM, Cybulski, C, D'Aloisio, AA, Anne Doherty, J, Earp, M, Edwards, RP, Fridley, BL, Gayther, SA, Gentry-Maharaj, A, Goodman, MT, Gronwald, J, Hogdall, E, Iversen, ES, Jakubowska, A, Jensen, A, Karlan, BY, Kelemen, LE, Kjaer, SK, Kraft, P, Le, ND, Levine, DA, Lissowska, J, Lubinski, J, Matsuo, K, Menon, U, Modugno, R, Moysich, KB, Nakanishi, T, Ness, RB, Olson, S, Orlow, I, Pearce, CL, Pejovic, T, Poole, EM, Ramus, SJ, Anne Rossing, M, Sandler, DP, Shu, X-O, Song, H, Taylor, JA, Teo, S-H, Terry, KL, Thompson, PJ, Tworoger, SS, Webb, PM, Wentzensen, N, Wilkens, LR, Winham, S, Woo, Y-L, Wu, AH, Yang, H, Zheng, W, Ziogas, A, Phelan, CM, Schildkraut, JM, Berchuck, A, Goode, EL, Pharoah, PDP, Sellers, TA, and Ovarian Cancer Association Consortium, . "Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk." Human Molecular Genetics 25.16 (August 2016): 3600-3612.
PMID
27378695
Source
epmc
Published In
Human Molecular Genetics
Volume
25
Issue
16
Publish Date
2016
Start Page
3600
End Page
3612
DOI
10.1093/hmg/ddw196

Performance of sentinel lymph node biopsy in high-risk endometrial cancer.

To determine the rate and performance of sentinel lymph node (SLN) mapping among women with high-risk endometrial cancers.Patients diagnosed between 2012 and 2015 with uterine cancer of grade 3 endometrioid, clear cell, serous or carcinosarcoma histology and who underwent SLN mapping prior to full pelvic lymph node dissection were included. Subjects underwent methylene blue or ICG injection for laparoscopic (N = 16) or robotic-assisted laparoscopic (N = 20) staging. Outcomes included SLN mapping rates, SLN and non-SLN positive rates, false negative SLN algorithm rate, and the negative predictive value (NPV) of the SLN algorithm. Fisher's exact test was used to compare mapping and node positivity rates.9/36 (25%) patients with high-risk uterine cancer had at least one metastatic lymph node identified. Successful mapping occurred in 30/36 (83%) patients. SLN mapped to pelvic nodes bilaterally in 20 (56%), unilaterally in 9 (25%), and aortic nodes only in 1 (3%). Malignancy was identified in 14/95 (15%) of all sentinel nodes and 12/775 (1.5%) of all non-sentinel nodes (p < 0.001). The false negative rate of SLN mapping alone was 2/26 (7.7%); the NPV was 92.3%. When the SLN algorithm was applied retrospectively the false negative rate was 0/31 (0%); the NPV was 100%.SLN mapping rates for high-risk cancers are slightly lower than in prior reports of lower risk cancers. The NPV of the SLN mapping alone is 92% and rises to 100% when the SLN algorithm is applied. Such results are acceptable and consistent with larger subsets of lower risk endometrial cancers.

Authors
Ehrisman, J; Secord, AA; Berchuck, A; Lee, PS; Di Santo, N; Lopez-Acevedo, M; Broadwater, G; Valea, FA; Havrilesky, LJ
MLA Citation
Ehrisman, J, Secord, AA, Berchuck, A, Lee, PS, Di Santo, N, Lopez-Acevedo, M, Broadwater, G, Valea, FA, and Havrilesky, LJ. "Performance of sentinel lymph node biopsy in high-risk endometrial cancer." Gynecologic oncology reports 17 (August 2016): 69-71.
PMID
27453926
Source
epmc
Published In
Gynecologic Oncology Reports
Volume
17
Publish Date
2016
Start Page
69
End Page
71
DOI
10.1016/j.gore.2016.04.002

Association Between Menopausal Estrogen-Only Therapy and Ovarian Carcinoma Risk

Authors
Lee, AW; Ness, RB; Roman, LD; Terry, KL; Schildkraut, JM; Chang-Claude, J; Doherty, JA; Menon, U; Cramer, DW; Gayther, SA; Risch, H; Gentry-Maharaj, A; Goodman, MT; Modugno, F; Eilber, U; Moysich, KB; Berchuck, A; Rossing, MA; Jensen, A; Wicklund, KG; Cushing-Haugen, KL; Hogdall, E; Rudolph, A; Thompson, PJ; Wilkens, LR; Kjaer, SK; Carney, ME; Stram, DO; Ramus, SJ; Wu, AH; Pike, MC; Pearce, CL
MLA Citation
Lee, AW, Ness, RB, Roman, LD, Terry, KL, Schildkraut, JM, Chang-Claude, J, Doherty, JA, Menon, U, Cramer, DW, Gayther, SA, Risch, H, Gentry-Maharaj, A, Goodman, MT, Modugno, F, Eilber, U, Moysich, KB, Berchuck, A, Rossing, MA, Jensen, A, Wicklund, KG, Cushing-Haugen, KL, Hogdall, E, Rudolph, A, Thompson, PJ, Wilkens, LR, Kjaer, SK, Carney, ME, Stram, DO, Ramus, SJ, Wu, AH, Pike, MC, and Pearce, CL. "Association Between Menopausal Estrogen-Only Therapy and Ovarian Carcinoma Risk." Obstetrical & Gynecological Survey 71.8 (August 2016): 470-471.
Source
crossref
Published In
Obstetrical & Gynecological Survey
Volume
71
Issue
8
Publish Date
2016
Start Page
470
End Page
471
DOI
10.1097/01.ogx.0000489579.62561.b8

Abstract 3407: Gene expression subtypes of high grade serous ovarian cancer in African American women

Authors
Doherty, JA; Greene, CS; Rudd, JE; Tafe, LJ; Alberg, AJ; Bandera, EV; Barnholtz-Sloan, J; Bondy, M; Cote, ML; Funkhouser, E; Moorman, PG; Peters, ES; Schwartz, AG; Terry, P; Bentley, R; Berchuck, A; Marks, JR; Schildkraut, JM
MLA Citation
Doherty, JA, Greene, CS, Rudd, JE, Tafe, LJ, Alberg, AJ, Bandera, EV, Barnholtz-Sloan, J, Bondy, M, Cote, ML, Funkhouser, E, Moorman, PG, Peters, ES, Schwartz, AG, Terry, P, Bentley, R, Berchuck, A, Marks, JR, and Schildkraut, JM. "Abstract 3407: Gene expression subtypes of high grade serous ovarian cancer in African American women." July 15, 2016.
Source
crossref
Published In
Cancer Research
Volume
76
Issue
14 Supplement
Publish Date
2016
Start Page
3407
End Page
3407
DOI
10.1158/1538-7445.AM2016-3407

Abstract 797: A splicing variant of TERT identified by GWAS interacts with menopausal estrogen therapy in risk of ovarian cancer

Authors
Lee, AW; Bomkamp, A; Bandera, EV; Jensen, A; Ramus, SJ; Goodman, MT; Rossing, MA; Modugno, F; Moysich, KB; Chang-Claude, J; Rudolph, A; Gentry-Maharaj, A; Terry, KL; Gayther, SA; Cramer, DW; Doherty, JA; Schildkraut, JM; Kjaer, SK; Ness, RB; Menon, U; Berchuck, A; Mukherjee, B; Roman, L; Pharoah, PD; Chenevix-Trench, G; Wu, AH; Pike, MC; Pearce, CL
MLA Citation
Lee, AW, Bomkamp, A, Bandera, EV, Jensen, A, Ramus, SJ, Goodman, MT, Rossing, MA, Modugno, F, Moysich, KB, Chang-Claude, J, Rudolph, A, Gentry-Maharaj, A, Terry, KL, Gayther, SA, Cramer, DW, Doherty, JA, Schildkraut, JM, Kjaer, SK, Ness, RB, Menon, U, Berchuck, A, Mukherjee, B, Roman, L, Pharoah, PD, Chenevix-Trench, G, Wu, AH, Pike, MC, and Pearce, CL. "Abstract 797: A splicing variant of TERT identified by GWAS interacts with menopausal estrogen therapy in risk of ovarian cancer." July 15, 2016.
Source
crossref
Published In
Cancer Research
Volume
76
Issue
14 Supplement
Publish Date
2016
Start Page
797
End Page
797
DOI
10.1158/1538-7445.AM2016-797

Assessing the genetic architecture of epithelial ovarian cancer histological subtypes.

Epithelial ovarian cancer (EOC) is one of the deadliest common cancers. The five most common types of disease are high-grade and low-grade serous, endometrioid, mucinous and clear cell carcinoma. Each of these subtypes present distinct molecular pathogeneses and sensitivities to treatments. Recent studies show that certain genetic variants confer susceptibility to all subtypes while other variants are subtype-specific. Here, we perform an extensive analysis of the genetic architecture of EOC subtypes. To this end, we used data of 10,014 invasive EOC patients and 21,233 controls from the Ovarian Cancer Association Consortium genotyped in the iCOGS array (211,155 SNPs). We estimate the array heritability (attributable to variants tagged on arrays) of each subtype and their genetic correlations. We also look for genetic overlaps with factors such as obesity, smoking behaviors, diabetes, age at menarche and height. We estimated the array heritabilities of high-grade serous disease ([Formula: see text] = 8.8 ± 1.1 %), endometrioid ([Formula: see text] = 3.2 ± 1.6 %), clear cell ([Formula: see text] = 6.7 ± 3.3 %) and all EOC ([Formula: see text] = 5.6 ± 0.6 %). Known associated loci contributed approximately 40 % of the total array heritability for each subtype. The contribution of each chromosome to the total heritability was not proportional to chromosome size. Through bivariate and cross-trait LD score regression, we found evidence of shared genetic backgrounds between the three high-grade subtypes: serous, endometrioid and undifferentiated. Finally, we found significant genetic correlations of all EOC with diabetes and obesity using a polygenic prediction approach.

Authors
Cuellar-Partida, G; Lu, Y; Dixon, SC; Australian Ovarian Cancer Study, ; Fasching, PA; Hein, A; Burghaus, S; Beckmann, MW; Lambrechts, D; Van Nieuwenhuysen, E; Vergote, I; Vanderstichele, A; Doherty, JA; Rossing, MA; Chang-Claude, J; Rudolph, A; Wang-Gohrke, S; Goodman, MT; Bogdanova, N; Dörk, T; Dürst, M; Hillemanns, P; Runnebaum, IB; Antonenkova, N; Butzow, R; Leminen, A; Nevanlinna, H; Pelttari, LM; Edwards, RP; Kelley, JL; Modugno, F; Moysich, KB; Ness, RB; Cannioto, R; Høgdall, E; Høgdall, C; Jensen, A; Giles, GG; Bruinsma, F; Kjaer, SK; Hildebrandt, MAT; Liang, D; Lu, KH; Wu, X; Bisogna, M; Dao, F; Levine, DA; Cramer, DW; Terry, KL; Tworoger, SS; Stampfer, M; Missmer, S; Bjorge, L; Salvesen, HB; Kopperud, RK; Bischof, K; Aben, KKH; Kiemeney, LA; Massuger, LFAG; Brooks-Wilson, A; Olson, SH; McGuire, V; Rothstein, JH; Sieh, W; Whittemore, AS; Cook, LS; Le, ND; Blake Gilks, C; Gronwald, J; Jakubowska, A; Lubiński, J; Kluz, T; Song, H; Tyrer, JP; Wentzensen, N; Brinton, L; Trabert, B; Lissowska, J; McLaughlin, JR; Narod, SA; Phelan, C; Anton-Culver, H; Ziogas, A; Eccles, D; Campbell, I; Gayther, SA; Gentry-Maharaj, A; Menon, U; Ramus, SJ; Wu, AH; Dansonka-Mieszkowska, A; Kupryjanczyk, J; Timorek, A; Szafron, L; Cunningham, JM; Fridley, BL; Winham, SJ; Bandera, EV; Poole, EM; Morgan, TK; Goode, EL; Schildkraut, JM; Pearce, CL; Berchuck, A; Pharoah, PDP; Webb, PM; Chenevix-Trench, G; Risch, HA; MacGregor, S
MLA Citation
Cuellar-Partida, G, Lu, Y, Dixon, SC, Australian Ovarian Cancer Study, , Fasching, PA, Hein, A, Burghaus, S, Beckmann, MW, Lambrechts, D, Van Nieuwenhuysen, E, Vergote, I, Vanderstichele, A, Doherty, JA, Rossing, MA, Chang-Claude, J, Rudolph, A, Wang-Gohrke, S, Goodman, MT, Bogdanova, N, Dörk, T, Dürst, M, Hillemanns, P, Runnebaum, IB, Antonenkova, N, Butzow, R, Leminen, A, Nevanlinna, H, Pelttari, LM, Edwards, RP, Kelley, JL, Modugno, F, Moysich, KB, Ness, RB, Cannioto, R, Høgdall, E, Høgdall, C, Jensen, A, Giles, GG, Bruinsma, F, Kjaer, SK, Hildebrandt, MAT, Liang, D, Lu, KH, Wu, X, Bisogna, M, Dao, F, Levine, DA, Cramer, DW, Terry, KL, Tworoger, SS, Stampfer, M, Missmer, S, Bjorge, L, Salvesen, HB, Kopperud, RK, Bischof, K, Aben, KKH, Kiemeney, LA, Massuger, LFAG, Brooks-Wilson, A, Olson, SH, McGuire, V, Rothstein, JH, Sieh, W, Whittemore, AS, Cook, LS, Le, ND, Blake Gilks, C, Gronwald, J, Jakubowska, A, Lubiński, J, Kluz, T, Song, H, Tyrer, JP, Wentzensen, N, Brinton, L, Trabert, B, Lissowska, J, McLaughlin, JR, Narod, SA, Phelan, C, Anton-Culver, H, Ziogas, A, Eccles, D, Campbell, I, Gayther, SA, Gentry-Maharaj, A, Menon, U, Ramus, SJ, Wu, AH, Dansonka-Mieszkowska, A, Kupryjanczyk, J, Timorek, A, Szafron, L, Cunningham, JM, Fridley, BL, Winham, SJ, Bandera, EV, Poole, EM, Morgan, TK, Goode, EL, Schildkraut, JM, Pearce, CL, Berchuck, A, Pharoah, PDP, Webb, PM, Chenevix-Trench, G, Risch, HA, and MacGregor, S. "Assessing the genetic architecture of epithelial ovarian cancer histological subtypes." Human Genetics 135.7 (July 2016): 741-756.
PMID
27075448
Source
epmc
Published In
Human Genetics
Volume
135
Issue
7
Publish Date
2016
Start Page
741
End Page
756
DOI
10.1007/s00439-016-1663-9

Chronic Recreational Physical Inactivity and Epithelial Ovarian Cancer Risk: Evidence from the Ovarian Cancer Association Consortium.

Despite a large body of literature evaluating the association between recreational physical activity and epithelial ovarian cancer (EOC) risk, the extant evidence is inconclusive, and little is known about the independent association between recreational physical inactivity and EOC risk. We conducted a pooled analysis of nine studies from the Ovarian Cancer Association Consortium to investigate the association between chronic recreational physical inactivity and EOC risk.In accordance with the 2008 Physical Activity Guidelines for Americans, women reporting no regular, weekly recreational physical activity were classified as inactive. Multivariable logistic regression was utilized to estimate the ORs and 95% confidence intervals (CI) for the association between inactivity and EOC risk overall and by subgroups based upon histotype, menopausal status, race, and body mass index.The current analysis included data from 8,309 EOC patients and 12,612 controls. We observed a significant positive association between inactivity and EOC risk (OR = 1.34; 95% CI, 1.14-1.57), and similar associations were observed for each histotype.In this large pooled analysis examining the association between recreational physical inactivity and EOC risk, we observed consistent evidence of an association between chronic inactivity and all EOC histotypes.These data add to the growing body of evidence suggesting that inactivity is an independent risk factor for cancer. If the apparent association between inactivity and EOC risk is substantiated, additional work via targeted interventions should be pursued to characterize the dose of activity required to mitigate the risk of this highly fatal disease. Cancer Epidemiol Biomarkers Prev; 25(7); 1114-24. ©2016 AACR.

Authors
Cannioto, R; LaMonte, MJ; Risch, HA; Hong, C-C; Sucheston-Campbell, LE; Eng, KH; Brian Szender, J; Chang-Claude, J; Schmalfeldt, B; Klapdor, R; Gower, E; Minlikeeva, AN; Zirpoli, GR; Bandera, EV; Berchuck, A; Cramer, D; Doherty, JA; Edwards, RP; Fridley, BL; Goode, EL; Goodman, MT; Hogdall, E; Hosono, S; Jensen, A; Jordan, S; Australian Ovarian Cancer Study Group, ; Kjaer, SK; Matsuo, K; Ness, RB; Olsen, CM; Olson, SH; Leigh Pearce, C; Pike, MC; Anne Rossing, M; Szamreta, EA; Thompson, PJ; Tseng, C-C; Vierkant, RA; Webb, PM; Wentzensen, N; Wicklund, KG; Winham, SJ; Wu, AH; Modugno, F; Schildkraut, JM; Terry, KL; Kelemen, LE; Moysich, KB
MLA Citation
Cannioto, R, LaMonte, MJ, Risch, HA, Hong, C-C, Sucheston-Campbell, LE, Eng, KH, Brian Szender, J, Chang-Claude, J, Schmalfeldt, B, Klapdor, R, Gower, E, Minlikeeva, AN, Zirpoli, GR, Bandera, EV, Berchuck, A, Cramer, D, Doherty, JA, Edwards, RP, Fridley, BL, Goode, EL, Goodman, MT, Hogdall, E, Hosono, S, Jensen, A, Jordan, S, Australian Ovarian Cancer Study Group, , Kjaer, SK, Matsuo, K, Ness, RB, Olsen, CM, Olson, SH, Leigh Pearce, C, Pike, MC, Anne Rossing, M, Szamreta, EA, Thompson, PJ, Tseng, C-C, Vierkant, RA, Webb, PM, Wentzensen, N, Wicklund, KG, Winham, SJ, Wu, AH, Modugno, F, Schildkraut, JM, Terry, KL, Kelemen, LE, and Moysich, KB. "Chronic Recreational Physical Inactivity and Epithelial Ovarian Cancer Risk: Evidence from the Ovarian Cancer Association Consortium." Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology 25.7 (July 2016): 1114-1124. (Review)
PMID
27197285
Source
epmc
Published In
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology
Volume
25
Issue
7
Publish Date
2016
Start Page
1114
End Page
1124
DOI
10.1158/1055-9965.EPI-15-1330

Recreational physical inactivity and mortality in women with invasive epithelial ovarian cancer: evidence from the Ovarian Cancer Association Consortium.

Little is known about modifiable behaviours that may be associated with epithelial ovarian cancer (EOC) survival. We conducted a pooled analysis of 12 studies from the Ovarian Cancer Association Consortium to investigate the association between pre-diagnostic physical inactivity and mortality.Participants included 6806 women with a primary diagnosis of invasive EOC. In accordance with the Physical Activity Guidelines for Americans, women reporting no regular, weekly recreational physical activity were classified as inactive. We utilised Cox proportional hazard models to estimate hazard ratios (HRs) and 95% confidence intervals (CIs) representing the associations of inactivity with mortality censored at 5 years.In multivariate analysis, inactive women had significantly higher mortality risks, with (HR=1.34, 95% CI: 1.18-1.52) and without (HR=1.22, 95% CI: 1.12-1.33) further adjustment for residual disease, respectively.In this large pooled analysis, lack of recreational physical activity was associated with increased mortality among women with invasive EOC.

Authors
Cannioto, RA; LaMonte, MJ; Kelemen, LE; Risch, HA; Eng, KH; Minlikeeva, AN; Hong, C-C; Szender, JB; Sucheston-Campbell, L; Joseph, JM; Berchuck, A; Chang-Claude, J; Cramer, DW; DeFazio, A; Diergaarde, B; Dörk, T; Doherty, JA; Edwards, RP; Fridley, BL; Friel, G; Goode, EL; Goodman, MT; Hillemanns, P; Hogdall, E; Hosono, S; Kelley, JL; Kjaer, SK; Klapdor, R; Matsuo, K; Odunsi, K; Nagle, CM; Olsen, CM; Paddock, LE; Pearce, CL; Pike, MC; Rossing, MA; Schmalfeldt, B; Segal, BH; Szamreta, EA et al.
MLA Citation
Cannioto, RA, LaMonte, MJ, Kelemen, LE, Risch, HA, Eng, KH, Minlikeeva, AN, Hong, C-C, Szender, JB, Sucheston-Campbell, L, Joseph, JM, Berchuck, A, Chang-Claude, J, Cramer, DW, DeFazio, A, Diergaarde, B, Dörk, T, Doherty, JA, Edwards, RP, Fridley, BL, Friel, G, Goode, EL, Goodman, MT, Hillemanns, P, Hogdall, E, Hosono, S, Kelley, JL, Kjaer, SK, Klapdor, R, Matsuo, K, Odunsi, K, Nagle, CM, Olsen, CM, Paddock, LE, Pearce, CL, Pike, MC, Rossing, MA, Schmalfeldt, B, Segal, BH, and Szamreta, EA et al. "Recreational physical inactivity and mortality in women with invasive epithelial ovarian cancer: evidence from the Ovarian Cancer Association Consortium." British journal of cancer 115.1 (June 14, 2016): 95-101. (letter)
PMID
27299959
Source
epmc
Published In
British Journal of Cancer
Volume
115
Issue
1
Publish Date
2016
Start Page
95
End Page
101
DOI
10.1038/bjc.2016.153

The Association Between Body Mass Index and Presenting Symptoms in African American Women with Ovarian Cancer.

Ovarian cancer, the most lethal gynecologic malignancy, typically comes to clinical attention due to nonspecific gastrointestinal or pelvic symptoms. African Americans with ovarian cancer have a greater mortality burden than whites and are also much more likely to be obese. The objective of this study is to explore whether the presentation and duration of symptoms differ by body mass index (BMI) in African Americans with ovarian cancer.We conducted a case-only analysis using data from a multicenter population-based study of invasive epithelial ovarian cancer in African American women. Information on risk factors and symptoms leading to diagnosis was obtained in a telephone interview. Frequency and duration of symptoms by BMI categories were compared using logistic regression and linear regression analyses.Of the 326 women, ∼60% was obese (BMI ≥30), with 30.8% having a BMI ≥35 kg/m(2). Ninety-four percent of women reported ≥1 symptom during the year before diagnosis. We observed differences in frequency of symptoms by BMI categories, with most being reported more frequently by the heaviest women. The reported duration of symptoms was longer in women with higher BMI, with statistically significant trend tests for 6 of the 10 symptoms evaluated.BMI appears to impact ovarian cancer symptomatology. Women with higher BMI report having symptoms for a longer period of time before diagnosis of ovarian cancer. Healthcare providers should be vigilant and consider ovarian cancer in the differential diagnosis for obese women presenting with abdominal and pelvic symptoms.

Authors
Erondu, CO; Alberg, AJ; Bandera, EV; Barnholtz-Sloan, J; Bondy, M; Cote, ML; Funkhouser, E; Peters, E; Schwartz, AG; Terry, PD; Wallace, K; Akushevich, L; Wang, F; Crankshaw, S; Berchuck, A; Schildkraut, JM; Moorman, PG
MLA Citation
Erondu, CO, Alberg, AJ, Bandera, EV, Barnholtz-Sloan, J, Bondy, M, Cote, ML, Funkhouser, E, Peters, E, Schwartz, AG, Terry, PD, Wallace, K, Akushevich, L, Wang, F, Crankshaw, S, Berchuck, A, Schildkraut, JM, and Moorman, PG. "The Association Between Body Mass Index and Presenting Symptoms in African American Women with Ovarian Cancer." Journal of women's health (2002) 25.6 (June 2016): 571-578.
PMID
26886855
Source
epmc
Published In
Journal of Women'S Health (2002)
Volume
25
Issue
6
Publish Date
2016
Start Page
571
End Page
578
DOI
10.1089/jwh.2015.5359

The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type.

Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is an aggressive tumor, with long term survival at ~30% in early stage disease. SCCOHT is caused by germline and somatic SMARCA4 mutations, but the effect of the mutation type on patients remains unknown. Furthermore, the rarity of SCCOHT has resulted in varied treatment, with no standardized protocols. We analyzed 293 cases to determine the effect of treatment modalities and SMARCA4 mutations on patient diagnosis and outcome.In 293 SCCOHT patients we collected information on age and stage at diagnosis, treatment modality (surgery, chemotherapy, radiotherapy, and/or high-dose chemotherapy with autologous stem cell rescue (HDC-aSCR)), SMARCA4 mutation origin (germline/somatic), and overall survival. Cox analysis and log-rank tests were performed on 257 cases with available survival data.The strongest prognostic factors were stage at diagnosis (p=2.72e-15) and treatment modality (p=3.87e-13). For FIGO stages II-IV, 5-year survival was 71% for patients who received HDC-aSCR, compared to 25% in patients who received conventional chemotherapy alone following surgery (p=0.002). Patients aged ≥40 had a worse outcome than younger patients (p=0.04). Twenty-six of 60 tested patients carried a germline SMARCA4 mutation, including all patients diagnosed <15years; carriers presented at a younger age than non-carriers (p=0.02).Stage at diagnosis is the most significant prognostic factor in SCCOHT and consolidation with HDC-aSCR may provide the best opportunity for long-term survival. The large fraction of SMARCA4 germline mutations carriers warrants genetic counseling for all patients.

Authors
Witkowski, L; Goudie, C; Ramos, P; Boshari, T; Brunet, J-S; Karnezis, AN; Longy, M; Knost, JA; Saloustros, E; McCluggage, WG; Stewart, CJR; Hendricks, WPD; Cunliffe, H; Huntsman, DG; Pautier, P; Levine, DA; Trent, JM; Berchuck, A; Hasselblatt, M; Foulkes, WD
MLA Citation
Witkowski, L, Goudie, C, Ramos, P, Boshari, T, Brunet, J-S, Karnezis, AN, Longy, M, Knost, JA, Saloustros, E, McCluggage, WG, Stewart, CJR, Hendricks, WPD, Cunliffe, H, Huntsman, DG, Pautier, P, Levine, DA, Trent, JM, Berchuck, A, Hasselblatt, M, and Foulkes, WD. "The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type." Gynecologic oncology 141.3 (June 2016): 454-460.
PMID
26975901
Source
epmc
Published In
Gynecologic Oncology
Volume
141
Issue
3
Publish Date
2016
Start Page
454
End Page
460
DOI
10.1016/j.ygyno.2016.03.013

What Women and Their Physicians Need to Know About the UKCTOCS Study and Ovarian Cancer Screening.

MLA Citation
"What Women and Their Physicians Need to Know About the UKCTOCS Study and Ovarian Cancer Screening." American Family Physician 93.11 (June 2016): 903-904.
PMID
27331230
Source
epmc
Published In
American Family Physician
Volume
93
Issue
11
Publish Date
2016
Start Page
903
End Page
904

Adult body mass index and risk of ovarian cancer by subtype: a Mendelian randomization study.

Observational studies have reported a positive association between body mass index (BMI) and ovarian cancer risk. However, questions remain as to whether this represents a causal effect, or holds for all histological subtypes. The lack of association observed for serous cancers may, for instance, be due to disease-associated weight loss. Mendelian randomization (MR) uses genetic markers as proxies for risk factors to overcome limitations of observational studies. We used MR to elucidate the relationship between BMI and ovarian cancer, hypothesizing that genetically predicted BMI would be associated with increased risk of non-high grade serous ovarian cancers (non-HGSC) but not HGSC.We pooled data from 39 studies (14 047 cases, 23 003 controls) in the Ovarian Cancer Association Consortium. We constructed a weighted genetic risk score (GRS, partial F-statistic = 172), summing alleles at 87 single nucleotide polymorphisms previously associated with BMI, weighting by their published strength of association with BMI. Applying two-stage predictor-substitution MR, we used logistic regression to estimate study-specific odds ratios (OR) and 95% confidence intervals (CI) for the association between genetically predicted BMI and risk, and pooled these using random-effects meta-analysis.Higher genetically predicted BMI was associated with increased risk of non-HGSC (pooled OR = 1.29, 95% CI 1.03-1.61 per 5 units BMI) but not HGSC (pooled OR = 1.06, 95% CI 0.88-1.27). Secondary analyses stratified by behaviour/subtype suggested that, consistent with observational data, the association was strongest for low-grade/borderline serous cancers (OR = 1.93, 95% CI 1.33-2.81).Our data suggest that higher BMI increases risk of non-HGSC, but not the more common and aggressive HGSC subtype, confirming the observational evidence.

Authors
Dixon, SC; Nagle, CM; Thrift, AP; Pharoah, PD; Pearce, CL; Zheng, W; Painter, JN; AOCS Group & Australian Cancer Study (Ovarian Cancer), ; Chenevix-Trench, G; Fasching, PA; Beckmann, MW; Lambrechts, D; Vergote, I; Lambrechts, S; Van Nieuwenhuysen, E; Rossing, MA; Doherty, JA; Wicklund, KG; Chang-Claude, J; Rudolph, A; Moysich, KB; Odunsi, K; Goodman, MT; Wilkens, LR; Thompson, PJ; Shvetsov, YB; Dörk, T; Park-Simon, T-W; Hillemanns, P; Bogdanova, N; Butzow, R; Nevanlinna, H; Pelttari, LM; Leminen, A; Modugno, F; Ness, RB; Edwards, RP; Kelley, JL; Heitz, F; Karlan, BY; Kjær, SK; Høgdall, E; Jensen, A; Goode, EL; Fridley, BL; Cunningham, JM; Winham, SJ; Giles, GG; Bruinsma, F; Milne, RL; Southey, MC; Hildebrandt, MAT; Wu, X; Lu, KH; Liang, D; Levine, DA; Bisogna, M; Schildkraut, JM; Berchuck, A; Cramer, DW; Terry, KL; Bandera, EV; Olson, SH; Salvesen, HB; Thomsen, LC; Kopperud, RK; Bjorge, L; Kiemeney, LA; Massuger, LFAG; Pejovic, T; Cook, LS; Le, ND; Swenerton, KD; Brooks-Wilson, A; Kelemen, LE; Lubiński, J; Huzarski, T; Gronwald, J; Menkiszak, J; Wentzensen, N; Brinton, L; Yang, H; Lissowska, J; Høgdall, CK; Lundvall, L; Song, H; Tyrer, JP; Campbell, I; Eccles, D; Paul, J; Glasspool, R; Siddiqui, N; Whittemore, AS; Sieh, W; McGuire, V; Rothstein, JH; Narod, SA; Phelan, C; Risch, HA; McLaughlin, JR; Anton-Culver, H; Ziogas, A; Menon, U; Gayther, SA; Ramus, SJ; Gentry-Maharaj, A; Wu, AH; Pike, MC; Tseng, C-C; Kupryjanczyk, J; Dansonka-Mieszkowska, A; Budzilowska, A; Spiewankiewicz, B; Webb, PM; Ovarian Cancer Association Consortium,
MLA Citation
Dixon, SC, Nagle, CM, Thrift, AP, Pharoah, PD, Pearce, CL, Zheng, W, Painter, JN, AOCS Group & Australian Cancer Study (Ovarian Cancer), , Chenevix-Trench, G, Fasching, PA, Beckmann, MW, Lambrechts, D, Vergote, I, Lambrechts, S, Van Nieuwenhuysen, E, Rossing, MA, Doherty, JA, Wicklund, KG, Chang-Claude, J, Rudolph, A, Moysich, KB, Odunsi, K, Goodman, MT, Wilkens, LR, Thompson, PJ, Shvetsov, YB, Dörk, T, Park-Simon, T-W, Hillemanns, P, Bogdanova, N, Butzow, R, Nevanlinna, H, Pelttari, LM, Leminen, A, Modugno, F, Ness, RB, Edwards, RP, Kelley, JL, Heitz, F, Karlan, BY, Kjær, SK, Høgdall, E, Jensen, A, Goode, EL, Fridley, BL, Cunningham, JM, Winham, SJ, Giles, GG, Bruinsma, F, Milne, RL, Southey, MC, Hildebrandt, MAT, Wu, X, Lu, KH, Liang, D, Levine, DA, Bisogna, M, Schildkraut, JM, Berchuck, A, Cramer, DW, Terry, KL, Bandera, EV, Olson, SH, Salvesen, HB, Thomsen, LC, Kopperud, RK, Bjorge, L, Kiemeney, LA, Massuger, LFAG, Pejovic, T, Cook, LS, Le, ND, Swenerton, KD, Brooks-Wilson, A, Kelemen, LE, Lubiński, J, Huzarski, T, Gronwald, J, Menkiszak, J, Wentzensen, N, Brinton, L, Yang, H, Lissowska, J, Høgdall, CK, Lundvall, L, Song, H, Tyrer, JP, Campbell, I, Eccles, D, Paul, J, Glasspool, R, Siddiqui, N, Whittemore, AS, Sieh, W, McGuire, V, Rothstein, JH, Narod, SA, Phelan, C, Risch, HA, McLaughlin, JR, Anton-Culver, H, Ziogas, A, Menon, U, Gayther, SA, Ramus, SJ, Gentry-Maharaj, A, Wu, AH, Pike, MC, Tseng, C-C, Kupryjanczyk, J, Dansonka-Mieszkowska, A, Budzilowska, A, Spiewankiewicz, B, Webb, PM, and Ovarian Cancer Association Consortium, . "Adult body mass index and risk of ovarian cancer by subtype: a Mendelian randomization study." International Journal of Epidemiology 45.3 (June 2016): 884-895.
PMID
27401727
Source
epmc
Published In
International Journal of Epidemiology
Volume
45
Issue
3
Publish Date
2016
Start Page
884
End Page
895
DOI
10.1093/ije/dyw158

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

OBJECTIVE:Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3' UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer risk as well as with survival time. However, prior studies, emphasizing particular subgroups, were relatively small. Therefore, we comprehensively evaluated ovarian and breast cancer risks as well as clinical outcome associated with rs61764370. METHODS:Centralized genotyping and analysis were performed for 140,012 women enrolled in the Ovarian Cancer Association Consortium (15,357 ovarian cancer patients; 30,816 controls), the Breast Cancer Association Consortium (33,530 breast cancer patients; 37,640 controls), and the Consortium of Modifiers of BRCA1 and BRCA2 (14,765 BRCA1 and 7904 BRCA2 mutation carriers). RESULTS:We found no association with risk of ovarian cancer (OR=0.99, 95% CI 0.94-1.04, p=0.74) or breast cancer (OR=0.98, 95% CI 0.94-1.01, p=0.19) and results were consistent among mutation carriers (BRCA1, ovarian cancer HR=1.09, 95% CI 0.97-1.23, p=0.14, breast cancer HR=1.04, 95% CI 0.97-1.12, p=0.27; BRCA2, ovarian cancer HR=0.89, 95% CI 0.71-1.13, p=0.34, breast cancer HR=1.06, 95% CI 0.94-1.19, p=0.35). Null results were also obtained for associations with overall survival following ovarian cancer (HR=0.94, 95% CI 0.83-1.07, p=0.38), breast cancer (HR=0.96, 95% CI 0.87-1.06, p=0.38), and all other previously-reported associations. CONCLUSIONS:rs61764370 is not associated with risk of ovarian or breast cancer nor with clinical outcome for patients with these cancers. Therefore, genotyping this variant has no clinical utility related to the prediction or management of these cancers.

Authors
Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, and Consortium of Modifiers of BRCA1 and BRCA2, ; Hollestelle, A; van der Baan, FH; Berchuck, A; Johnatty, SE; Aben, KK; Agnarsson, BA; Aittomäki, K; Alducci, E; Andrulis, IL; Anton-Culver, H; Antonenkova, NN; Antoniou, AC; Apicella, C; Arndt, V; Arnold, N; Arun, BK; Arver, B; Ashworth, A; Australian Ovarian Cancer Study Group, ; Baglietto, L; Balleine, R; Bandera, EV; Barrowdale, D; Bean, YT; Beckmann, L; Beckmann, MW; Benitez, J; Berger, A; Berger, R; Beuselinck, B; Bisogna, M; Bjorge, L; Blomqvist, C; Bogdanova, NV; Bojesen, A; Bojesen, SE; Bolla, MK; Bonanni, B; Brand, JS; Brauch, H; Breast Cancer Family Register, ; Brenner, H; Brinton, L; Brooks-Wilson, A; Bruinsma, F; Brunet, J; Brüning, T; Budzilowska, A; Bunker, CH; Burwinkel, B; Butzow, R; Buys, SS; Caligo, MA; Campbell, I; Carter, J; Chang-Claude, J; Chanock, SJ; Claes, KBM; Collée, JM; Cook, LS; Couch, FJ; Cox, A; Cramer, D; Cross, SS; Cunningham, JM; Cybulski, C; Czene, K; Damiola, F; Dansonka-Mieszkowska, A; Darabi, H; de la Hoya, M; deFazio, A; Dennis, J; Devilee, P; Dicks, EM; Diez, O; Doherty, JA; Domchek, SM; Dorfling, CM; Dörk, T; Silva, IDS; du Bois, A; Dumont, M; Dunning, AM; Duran, M; Easton, DF; Eccles, D; Edwards, RP; Ehrencrona, H; Ejlertsen, B; Ekici, AB; Ellis, SD; EMBRACE, ; Engel, C; Eriksson, M; Fasching, PA; Feliubadalo, L; Figueroa, J; Flesch-Janys, D; Fletcher, O; Fontaine, A; Fortuzzi, S; Fostira, F; Fridley, BL; Friebel, T; Friedman, E; Friel, G; Frost, D; Garber, J; García-Closas, M; Gayther, SA; GEMO Study Collaborators, ; GENICA Network, ; Gentry-Maharaj, A; Gerdes, A-M; Giles, GG; Glasspool, R; Glendon, G; Godwin, AK; Goodman, MT; Gore, M; Greene, MH; Grip, M; Gronwald, J; Gschwantler Kaulich, D; Guénel, P; Guzman, SR; Haeberle, L; Haiman, CA; Hall, P; Halverson, SL; Hamann, U; Hansen, TVO; Harter, P; Hartikainen, JM; Healey, S; HEBON, ; Hein, A; Heitz, F; Henderson, BE; Herzog, J; T Hildebrandt, MA; Høgdall, CK; Høgdall, E; Hogervorst, FBL; Hopper, JL; Humphreys, K; Huzarski, T; Imyanitov, EN; Isaacs, C; Jakubowska, A; Janavicius, R; Jaworska, K; Jensen, A; Jensen, UB; Johnson, N; Jukkola-Vuorinen, A; Kabisch, M; Karlan, BY; Kataja, V; Kauff, N; KConFab Investigators, ; Kelemen, LE; Kerin, MJ; Kiemeney, LA; Kjaer, SK; Knight, JA; Knol-Bout, JP; Konstantopoulou, I; Kosma, V-M; Krakstad, C; Kristensen, V; Kuchenbaecker, KB; Kupryjanczyk, J; Laitman, Y; Lambrechts, D; Lambrechts, S; Larson, MC; Lasa, A; Laurent-Puig, P; Lazaro, C; Le, ND; Le Marchand, L; Leminen, A; Lester, J; Levine, DA; Li, J; Liang, D; Lindblom, A; Lindor, N; Lissowska, J; Long, J; Lu, KH; Lubinski, J; Lundvall, L; Lurie, G; Mai, PL; Mannermaa, A; Margolin, S; Mariette, F; Marme, F; Martens, JWM; Massuger, LFAG; Maugard, C; Mazoyer, S; McGuffog, L; McGuire, V; McLean, C; McNeish, I; Meindl, A; Menegaux, F; Menéndez, P; Menkiszak, J; Menon, U; Mensenkamp, AR; Miller, N; Milne, RL; Modugno, F; Montagna, M; Moysich, KB; Müller, H; Mulligan, AM; Muranen, TA; Narod, SA; Nathanson, KL; Ness, RB; Neuhausen, SL; Nevanlinna, H; Neven, P; Nielsen, FC; Nielsen, SF; Nordestgaard, BG; Nussbaum, RL; Odunsi, K; Offit, K; Olah, E; Olopade, OI; Olson, JE; Olson, SH; Oosterwijk, JC; Orlow, I; Orr, N; Orsulic, S; Osorio, A; Ottini, L; Paul, J; Pearce, CL; Pedersen, IS; Peissel, B; Pejovic, T; Pelttari, LM; Perkins, J; Permuth-Wey, J; Peterlongo, P; Peto, J; Phelan, CM; Phillips, K-A; Piedmonte, M; Pike, MC; Platte, R; Plisiecka-Halasa, J; Poole, EM; Poppe, B; Pylkäs, K; Radice, P; Ramus, SJ; Rebbeck, TR; Reed, MWR; Rennert, G; Risch, HA; Robson, M; Rodriguez, GC; Romero, A; Rossing, MA; Rothstein, JH; Rudolph, A; Runnebaum, I; Salani, R; Salvesen, HB; Sawyer, EJ; Schildkraut, JM; Schmidt, MK; Schmutzler, RK; Schneeweiss, A; Schoemaker, MJ; Schrauder, MG; Schumacher, F; Schwaab, I; Scuvera, G; Sellers, TA; Severi, G; Seynaeve, CM; Shah, M; Shrubsole, M; Siddiqui, N; Sieh, W; Simard, J; Singer, CF; Sinilnikova, OM; Smeets, D; Sohn, C; Soller, M; Song, H; Soucy, P; Southey, MC; Stegmaier, C; Stoppa-Lyonnet, D; Sucheston, L; SWE-BRCA, ; Swerdlow, A; Tangen, IL; Tea, M-K; Teixeira, MR; Terry, KL; Terry, MB; Thomassen, M; Thompson, PJ; Tihomirova, L; Tischkowitz, M; Toland, AE; Tollenaar, RAEM; Tomlinson, I; Torres, D; Truong, T; Tsimiklis, H; Tung, N; Tworoger, SS; Tyrer, JP; Vachon, CM; Van 't Veer, LJ; van Altena, AM; Van Asperen, CJ; van den Berg, D; van den Ouweland, AMW; van Doorn, HC; Van Nieuwenhuysen, E; van Rensburg, EJ; Vergote, I; Verhoef, S; Vierkant, RA; Vijai, J; Vitonis, AF; von Wachenfeldt, A; Walsh, C; Wang, Q; Wang-Gohrke, S; Wappenschmidt, B; Weischer, M; Weitzel, JN; Weltens, C; Wentzensen, N; Whittemore, AS; Wilkens, LR; Winqvist, R; Wu, AH; Wu, X; Yang, HP; Zaffaroni, D; Pilar Zamora, M; Zheng, W; Ziogas, A; Chenevix-Trench, G; Pharoah, PDP; Rookus, MA; Hooning, MJ; Goode, EL
MLA Citation
Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, and Consortium of Modifiers of BRCA1 and BRCA2, , Hollestelle, A, van der Baan, FH, Berchuck, A, Johnatty, SE, Aben, KK, Agnarsson, BA, Aittomäki, K, Alducci, E, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Antoniou, AC, Apicella, C, Arndt, V, Arnold, N, Arun, BK, Arver, B, Ashworth, A, Australian Ovarian Cancer Study Group, , Baglietto, L, Balleine, R, Bandera, EV, Barrowdale, D, Bean, YT, Beckmann, L, Beckmann, MW, Benitez, J, Berger, A, Berger, R, Beuselinck, B, Bisogna, M, Bjorge, L, Blomqvist, C, Bogdanova, NV, Bojesen, A, Bojesen, SE, Bolla, MK, Bonanni, B, Brand, JS, Brauch, H, Breast Cancer Family Register, , Brenner, H, Brinton, L, Brooks-Wilson, A, Bruinsma, F, Brunet, J, Brüning, T, Budzilowska, A, Bunker, CH, Burwinkel, B, Butzow, R, Buys, SS, Caligo, MA, Campbell, I, Carter, J, Chang-Claude, J, Chanock, SJ, Claes, KBM, Collée, JM, Cook, LS, Couch, FJ, Cox, A, Cramer, D, Cross, SS, Cunningham, JM, Cybulski, C, Czene, K, Damiola, F, Dansonka-Mieszkowska, A, Darabi, H, de la Hoya, M, deFazio, A, Dennis, J, Devilee, P, Dicks, EM, Diez, O, Doherty, JA, Domchek, SM, Dorfling, CM, Dörk, T, Silva, IDS, du Bois, A, Dumont, M, Dunning, AM, Duran, M, Easton, DF, Eccles, D, Edwards, RP, Ehrencrona, H, Ejlertsen, B, Ekici, AB, Ellis, SD, EMBRACE, , Engel, C, Eriksson, M, Fasching, PA, Feliubadalo, L, Figueroa, J, Flesch-Janys, D, Fletcher, O, Fontaine, A, Fortuzzi, S, Fostira, F, Fridley, BL, Friebel, T, Friedman, E, Friel, G, Frost, D, Garber, J, García-Closas, M, Gayther, SA, GEMO Study Collaborators, , GENICA Network, , Gentry-Maharaj, A, Gerdes, A-M, Giles, GG, Glasspool, R, Glendon, G, Godwin, AK, Goodman, MT, Gore, M, Greene, MH, Grip, M, Gronwald, J, Gschwantler Kaulich, D, Guénel, P, Guzman, SR, Haeberle, L, Haiman, CA, Hall, P, Halverson, SL, Hamann, U, Hansen, TVO, Harter, P, Hartikainen, JM, Healey, S, HEBON, , Hein, A, Heitz, F, Henderson, BE, Herzog, J, T Hildebrandt, MA, Høgdall, CK, Høgdall, E, Hogervorst, FBL, Hopper, JL, Humphreys, K, Huzarski, T, Imyanitov, EN, Isaacs, C, Jakubowska, A, Janavicius, R, Jaworska, K, Jensen, A, Jensen, UB, Johnson, N, Jukkola-Vuorinen, A, Kabisch, M, Karlan, BY, Kataja, V, Kauff, N, KConFab Investigators, , Kelemen, LE, Kerin, MJ, Kiemeney, LA, Kjaer, SK, Knight, JA, Knol-Bout, JP, Konstantopoulou, I, Kosma, V-M, Krakstad, C, Kristensen, V, Kuchenbaecker, KB, Kupryjanczyk, J, Laitman, Y, Lambrechts, D, Lambrechts, S, Larson, MC, Lasa, A, Laurent-Puig, P, Lazaro, C, Le, ND, Le Marchand, L, Leminen, A, Lester, J, Levine, DA, Li, J, Liang, D, Lindblom, A, Lindor, N, Lissowska, J, Long, J, Lu, KH, Lubinski, J, Lundvall, L, Lurie, G, Mai, PL, Mannermaa, A, Margolin, S, Mariette, F, Marme, F, Martens, JWM, Massuger, LFAG, Maugard, C, Mazoyer, S, McGuffog, L, McGuire, V, McLean, C, McNeish, I, Meindl, A, Menegaux, F, Menéndez, P, Menkiszak, J, Menon, U, Mensenkamp, AR, Miller, N, Milne, RL, Modugno, F, Montagna, M, Moysich, KB, Müller, H, Mulligan, AM, Muranen, TA, Narod, SA, Nathanson, KL, Ness, RB, Neuhausen, SL, Nevanlinna, H, Neven, P, Nielsen, FC, Nielsen, SF, Nordestgaard, BG, Nussbaum, RL, Odunsi, K, Offit, K, Olah, E, Olopade, OI, Olson, JE, Olson, SH, Oosterwijk, JC, Orlow, I, Orr, N, Orsulic, S, Osorio, A, Ottini, L, Paul, J, Pearce, CL, Pedersen, IS, Peissel, B, Pejovic, T, Pelttari, LM, Perkins, J, Permuth-Wey, J, Peterlongo, P, Peto, J, Phelan, CM, Phillips, K-A, Piedmonte, M, Pike, MC, Platte, R, Plisiecka-Halasa, J, Poole, EM, Poppe, B, Pylkäs, K, Radice, P, Ramus, SJ, Rebbeck, TR, Reed, MWR, Rennert, G, Risch, HA, Robson, M, Rodriguez, GC, Romero, A, Rossing, MA, Rothstein, JH, Rudolph, A, Runnebaum, I, Salani, R, Salvesen, HB, Sawyer, EJ, Schildkraut, JM, Schmidt, MK, Schmutzler, RK, Schneeweiss, A, Schoemaker, MJ, Schrauder, MG, Schumacher, F, Schwaab, I, Scuvera, G, Sellers, TA, Severi, G, Seynaeve, CM, Shah, M, Shrubsole, M, Siddiqui, N, Sieh, W, Simard, J, Singer, CF, Sinilnikova, OM, Smeets, D, Sohn, C, Soller, M, Song, H, Soucy, P, Southey, MC, Stegmaier, C, Stoppa-Lyonnet, D, Sucheston, L, SWE-BRCA, , Swerdlow, A, Tangen, IL, Tea, M-K, Teixeira, MR, Terry, KL, Terry, MB, Thomassen, M, Thompson, PJ, Tihomirova, L, Tischkowitz, M, Toland, AE, Tollenaar, RAEM, Tomlinson, I, Torres, D, Truong, T, Tsimiklis, H, Tung, N, Tworoger, SS, Tyrer, JP, Vachon, CM, Van 't Veer, LJ, van Altena, AM, Van Asperen, CJ, van den Berg, D, van den Ouweland, AMW, van Doorn, HC, Van Nieuwenhuysen, E, van Rensburg, EJ, Vergote, I, Verhoef, S, Vierkant, RA, Vijai, J, Vitonis, AF, von Wachenfeldt, A, Walsh, C, Wang, Q, Wang-Gohrke, S, Wappenschmidt, B, Weischer, M, Weitzel, JN, Weltens, C, Wentzensen, N, Whittemore, AS, Wilkens, LR, Winqvist, R, Wu, AH, Wu, X, Yang, HP, Zaffaroni, D, Pilar Zamora, M, Zheng, W, Ziogas, A, Chenevix-Trench, G, Pharoah, PDP, Rookus, MA, Hooning, MJ, and Goode, EL. "No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer." Gynecologic Oncology 141.2 (May 2016): 386-401. (Review)
PMID
25940428
Source
epmc
Published In
Gynecologic Oncology
Volume
141
Issue
2
Publish Date
2016
Start Page
386
End Page
401
DOI
10.1016/j.ygyno.2015.04.034

Assessment of Multifactor Gene-Environment Interactions and Ovarian Cancer Risk: Candidate Genes, Obesity, and Hormone-Related Risk Factors.

BACKGROUND:Many epithelial ovarian cancer (EOC) risk factors relate to hormone exposure and elevated estrogen levels are associated with obesity in postmenopausal women. Therefore, we hypothesized that gene-environment interactions related to hormone-related risk factors could differ between obese and non-obese women. METHODS:We considered interactions between 11,441 SNPs within 80 candidate genes related to hormone biosynthesis and metabolism and insulin-like growth factors with six hormone-related factors (oral contraceptive use, parity, endometriosis, tubal ligation, hormone replacement therapy, and estrogen use) and assessed whether these interactions differed between obese and non-obese women. Interactions were assessed using logistic regression models and data from 14 case-control studies (6,247 cases; 10,379 controls). Histotype-specific analyses were also completed. RESULTS:SNPs in the following candidate genes showed notable interaction: IGF1R (rs41497346, estrogen plus progesterone hormone therapy, histology = all, P = 4.9 × 10(-6)) and ESR1 (rs12661437, endometriosis, histology = all, P = 1.5 × 10(-5)). The most notable obesity-gene-hormone risk factor interaction was within INSR (rs113759408, parity, histology = endometrioid, P = 8.8 × 10(-6)). CONCLUSIONS:We have demonstrated the feasibility of assessing multifactor interactions in large genetic epidemiology studies. Follow-up studies are necessary to assess the robustness of our findings for ESR1, CYP11A1, IGF1R, CYP11B1, INSR, and IGFBP2 Future work is needed to develop powerful statistical methods able to detect these complex interactions. IMPACT:Assessment of multifactor interaction is feasible, and, here, suggests that the relationship between genetic variants within candidate genes and hormone-related risk factors may vary EOC susceptibility. Cancer Epidemiol Biomarkers Prev; 25(5); 780-90. ©2016 AACR.

Authors
Usset, JL; Raghavan, R; Tyrer, JP; McGuire, V; Sieh, W; Webb, P; Chang-Claude, J; Rudolph, A; Anton-Culver, H; Berchuck, A; Brinton, L; Cunningham, JM; DeFazio, A; Doherty, JA; Edwards, RP; Gayther, SA; Gentry-Maharaj, A; Goodman, MT; Høgdall, E; Jensen, A; Johnatty, SE; Kiemeney, LA; Kjaer, SK; Larson, MC; Lurie, G; Massuger, L; Menon, U; Modugno, F; Moysich, KB; Ness, RB; Pike, MC; Ramus, SJ; Rossing, MA; Rothstein, J; Song, H; Thompson, PJ; van den Berg, DJ; Vierkant, RA; Wang-Gohrke, S; Wentzensen, N; Whittemore, AS; Wilkens, LR; Wu, AH; Yang, H; Pearce, CL; Schildkraut, JM; Pharoah, P; Goode, EL; Fridley, BL; Ovarian Cancer Association Consortium and the Australian Cancer Study,
MLA Citation
Usset, JL, Raghavan, R, Tyrer, JP, McGuire, V, Sieh, W, Webb, P, Chang-Claude, J, Rudolph, A, Anton-Culver, H, Berchuck, A, Brinton, L, Cunningham, JM, DeFazio, A, Doherty, JA, Edwards, RP, Gayther, SA, Gentry-Maharaj, A, Goodman, MT, Høgdall, E, Jensen, A, Johnatty, SE, Kiemeney, LA, Kjaer, SK, Larson, MC, Lurie, G, Massuger, L, Menon, U, Modugno, F, Moysich, KB, Ness, RB, Pike, MC, Ramus, SJ, Rossing, MA, Rothstein, J, Song, H, Thompson, PJ, van den Berg, DJ, Vierkant, RA, Wang-Gohrke, S, Wentzensen, N, Whittemore, AS, Wilkens, LR, Wu, AH, Yang, H, Pearce, CL, Schildkraut, JM, Pharoah, P, Goode, EL, Fridley, BL, and Ovarian Cancer Association Consortium and the Australian Cancer Study, . "Assessment of Multifactor Gene-Environment Interactions and Ovarian Cancer Risk: Candidate Genes, Obesity, and Hormone-Related Risk Factors." Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology 25.5 (May 2016): 780-790.
PMID
26976855
Source
epmc
Published In
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology
Volume
25
Issue
5
Publish Date
2016
Start Page
780
End Page
790
DOI
10.1158/1055-9965.EPI-15-1039

Association Between Menopausal Estrogen-Only Therapy and Ovarian Carcinoma Risk.

OBJECTIVE:To describe the association between postmenopausal estrogen-only therapy use and risk of ovarian carcinoma, specifically with regard to disease histotype and duration and timing of use. METHODS:We conducted a pooled analysis of 906 women with ovarian carcinoma and 1,220 women in a control group; all 2,126 women included reported having had a hysterectomy. Ten population-based case-control studies participating in the Ovarian Cancer Association Consortium, an international consortium whose goal is to combine data from many studies with similar methods so reliable assessments of risk factors can be determined, were included. Self-reported questionnaire data from each study were harmonized and conditional logistic regression was used to examine estrogen-only therapy's histotype-specific and duration and recency of use associations. RESULTS:Forty-three and a half percent of the women in the control group reported previous use of estrogen-only therapy. Compared with them, current or recent estrogen-only therapy use was associated with an increased risk for the serous (51.4%, odds ratio [OR] 1.63, 95% confidence interval [CI] 1.27-2.09) and endometrioid (48.6%, OR 2.00, 95% CI 1.17-3.41) histotypes. In addition, statistically significant trends in risk according to duration of use were seen among current or recent postmenopausal estrogen-only therapy users for both ovarian carcinoma histotypes (Ptrend<.001 for serous and endometrioid). Compared with women in the control group, current or recent users for 10 years or more had increased risks of serous ovarian carcinoma (36.8%, OR 1.73, 95% CI 1.26-2.38) and endometrioid ovarian carcinoma (34.9%, OR 4.03, 95% CI 1.91-8.49). CONCLUSION:We found evidence of an increased risk of serous and endometrioid ovarian carcinoma associated with postmenopausal estrogen-only therapy use, particularly of long duration. These findings emphasize that risk may be associated with extended estrogen-only therapy use.

Authors
Lee, AW; Ness, RB; Roman, LD; Terry, KL; Schildkraut, JM; Chang-Claude, J; Doherty, JA; Menon, U; Cramer, DW; Gayther, SA; Risch, H; Gentry-Maharaj, A; Goodman, MT; Modugno, F; Eilber, U; Moysich, KB; Berchuck, A; Rossing, MA; Jensen, A; Wicklund, KG; Cushing-Haugen, KL; Hogdall, E; Rudolph, A; Thompson, PJ; Wilkens, LR; Kjaer, SK; Carney, ME; Stram, DO; Ramus, SJ; Wu, AH; Pike, MC; Pearce, CL; Ovarian Cancer Association Consortium,
MLA Citation
Lee, AW, Ness, RB, Roman, LD, Terry, KL, Schildkraut, JM, Chang-Claude, J, Doherty, JA, Menon, U, Cramer, DW, Gayther, SA, Risch, H, Gentry-Maharaj, A, Goodman, MT, Modugno, F, Eilber, U, Moysich, KB, Berchuck, A, Rossing, MA, Jensen, A, Wicklund, KG, Cushing-Haugen, KL, Hogdall, E, Rudolph, A, Thompson, PJ, Wilkens, LR, Kjaer, SK, Carney, ME, Stram, DO, Ramus, SJ, Wu, AH, Pike, MC, Pearce, CL, and Ovarian Cancer Association Consortium, . "Association Between Menopausal Estrogen-Only Therapy and Ovarian Carcinoma Risk." Obstetrics and Gynecology 127.5 (May 2016): 828-836.
PMID
27054934
Source
epmc
Published In
Obstetrics and Gynecology
Volume
127
Issue
5
Publish Date
2016
Start Page
828
End Page
836
DOI
10.1097/AOG.0000000000001387

The association between socioeconomic status and tumour stage at diagnosis of ovarian cancer: A pooled analysis of 18 case-control studies.

Socioeconomic status (SES) is a known predictor of survival for several cancers and it has been suggested that SES differences affecting tumour stage at diagnosis may be the most important explanatory factor for this. However, only a limited number of studies have investigated SES differences in tumour stage at diagnosis of ovarian cancer. In a pooled analysis, we investigated whether SES as represented by level of education is predictive for advanced tumour stage at diagnosis of ovarian cancer, overall and by histotype. The effect of cigarette smoking and body mass index (BMI) on the association was also evaluated.From 18 case-control studies, we obtained information on 10,601 women diagnosed with epithelial ovarian cancer. Study specific odds ratios (ORs) with corresponding 95% confidence intervals (CI) were obtained from logistic regression models and combined into a pooled odds ratio (pOR) using a random effects model.Overall, women who completed ≤high school had an increased risk of advanced tumour stage at diagnosis compared with women who completed >high school (pOR 1.15; 95% CI 1.03-1.28). The risk estimates for the different histotypes of ovarian cancer resembled that observed for ovarian cancers combined but did not reach statistical significance. Our results were unchanged when we included BMI and cigarette smoking.Lower level of education was associated with an increased risk of advanced tumour stage at diagnosis of ovarian cancer. The observed socioeconomic difference in stage at diagnosis of ovarian cancer calls for further studies on how to reduce this diagnostic delay.

Authors
Præstegaard, C; Kjaer, SK; Nielsen, TSS; Jensen, SM; Webb, PM; Nagle, CM; Høgdall, E; Risch, HA; Rossing, MA; Doherty, JA; Wicklund, KG; Goodman, MT; Modugno, F; Moysich, K; Ness, RB; Edwards, RP; Goode, EL; Winham, SJ; Fridley, BL; Cramer, DW; Terry, KL; Schildkraut, JM; Berchuck, A; Bandera, EV; Paddock, L; Kiemeney, LA; Massuger, LF; Wentzensen, N; Pharoah, P; Song, H; Whittemore, AS; McGuire, V; Sieh, W; Rothstein, J; Anton-Culver, H; Ziogas, A; Menon, U; Gayther, SA; Ramus, SJ; Gentry-Maharaj, A; Wu, AH; Pearce, CL; Pike, MC; Lee, AW; Chang-Claude, J; Jensen, A; Ovarian Cancer Association Consortium,
MLA Citation
Præstegaard, C, Kjaer, SK, Nielsen, TSS, Jensen, SM, Webb, PM, Nagle, CM, Høgdall, E, Risch, HA, Rossing, MA, Doherty, JA, Wicklund, KG, Goodman, MT, Modugno, F, Moysich, K, Ness, RB, Edwards, RP, Goode, EL, Winham, SJ, Fridley, BL, Cramer, DW, Terry, KL, Schildkraut, JM, Berchuck, A, Bandera, EV, Paddock, L, Kiemeney, LA, Massuger, LF, Wentzensen, N, Pharoah, P, Song, H, Whittemore, AS, McGuire, V, Sieh, W, Rothstein, J, Anton-Culver, H, Ziogas, A, Menon, U, Gayther, SA, Ramus, SJ, Gentry-Maharaj, A, Wu, AH, Pearce, CL, Pike, MC, Lee, AW, Chang-Claude, J, Jensen, A, and Ovarian Cancer Association Consortium, . "The association between socioeconomic status and tumour stage at diagnosis of ovarian cancer: A pooled analysis of 18 case-control studies." Cancer Epidemiology 41 (April 2016): 71-79.
PMID
26851750
Source
epmc
Published In
Cancer Epidemiology
Volume
41
Publish Date
2016
Start Page
71
End Page
79
DOI
10.1016/j.canep.2016.01.012

Subthreshold posttraumatic stress disorder: A meta-analytic review of DSM-IV prevalence and a proposed DSM-5 approach to measurement.

Subthreshold posttraumatic stress disorder (PTSD) is a chronic condition that is often ignored, the cumulative effects of which can negatively impact an individual's quality of life and overall health care costs. However, subthreshold PTSD prevalence rates and impairment remain unclear due to variations in research methodology. This study examined the existing literature in order to recommend approaches to standardize subthreshold PTSD assessment. We conducted (a) a meta-analysis of subthreshold PTSD prevalence rates and (b) compared functional impairment associated with the 3 most commonly studied subthreshold PTSD definitions. Meta-analytic results revealed that the average prevalence rate of subthreshold PTSD across studies was 14.7%, with a lower rate (12.6%) among the most methodologically rigorous studies and higher rate (15.6%) across less rigorous studies. There were significant methodological differences among reviewed studies with regard to definition, measurement, and population. Different definitions led to prevalence rates ranging between 13.7% and 16.4%. Variability in prevalence rates most related to population and sample composition, with trauma type and community (vs. epidemiological) samples significantly impacting heterogeneity. Qualitative information gathered from studies presenting functional correlates supported current evidence that psychological and behavioral parameters were worse among subthreshold PTSD groups compared with no-PTSD groups, but not as severe as impairment in PTSD groups. Several studies also reported significant increased risk of suicidality and hopelessness as well as higher health care utilization rates among those with subthreshold PTSD (compared with trauma exposed no-PTSD samples). Based on findings, we propose recommendations for developing a standard approach to evaluation of subthreshold PTSD.

Authors
Brancu, M; Mann-Wrobel, M; Beckham, JC; Wagner, HR; Elliott, A; Robbins, AT; Wong, M; Berchuck, AE; Runnals, JJ
MLA Citation
Brancu, M, Mann-Wrobel, M, Beckham, JC, Wagner, HR, Elliott, A, Robbins, AT, Wong, M, Berchuck, AE, and Runnals, JJ. "Subthreshold posttraumatic stress disorder: A meta-analytic review of DSM-IV prevalence and a proposed DSM-5 approach to measurement." Psychological Trauma : Theory, Research, Practice and Policy 8.2 (March 2016): 222-232.
PMID
26390108
Source
epmc
Published In
Psychological Trauma : Theory, Research, Practice and Policy
Volume
8
Issue
2
Publish Date
2016
Start Page
222
End Page
232
DOI
10.1037/tra0000078

Investigation of Exomic Variants Associated with Overall Survival in Ovarian Cancer.

BACKGROUND:While numerous susceptibility loci for epithelial ovarian cancer (EOC) have been identified, few associations have been reported with overall survival. In the absence of common prognostic genetic markers, we hypothesize that rare coding variants may be associated with overall EOC survival and assessed their contribution in two exome-based genotyping projects of the Ovarian Cancer Association Consortium (OCAC). METHODS:The primary patient set (Set 1) included 14 independent EOC studies (4,293 patients) and 227,892 variants, and a secondary patient set (Set 2) included six additional EOC studies (1,744 patients) and 114,620 variants. Because power to detect rare variants individually is reduced, gene-level tests were conducted. Sets were analyzed separately at individual variants and by gene, and then combined with meta-analyses (73,203 variants and 13,163 genes overlapped). RESULTS:No individual variant reached genome-wide statistical significance. A SNP previously implicated to be associated with EOC risk and, to a lesser extent, survival, rs8170, showed the strongest evidence of association with survival and similar effect size estimates across sets (Pmeta = 1.1E-6, HRSet1 = 1.17, HRSet2 = 1.14). Rare variants in ATG2B, an autophagy gene important for apoptosis, were significantly associated with survival after multiple testing correction (Pmeta = 1.1E-6; Pcorrected = 0.01). CONCLUSIONS:Common variant rs8170 and rare variants in ATG2B may be associated with EOC overall survival, although further study is needed. IMPACT:This study represents the first exome-wide association study of EOC survival to include rare variant analyses, and suggests that complementary single variant and gene-level analyses in large studies are needed to identify rare variants that warrant follow-up study. Cancer Epidemiol Biomarkers Prev; 25(3); 446-54. ©2016 AACR.

Authors
Winham, SJ; Pirie, A; Chen, YA; Larson, MC; Fogarty, ZC; Earp, MA; Anton-Culver, H; Bandera, EV; Cramer, D; Doherty, JA; Goodman, MT; Gronwald, J; Karlan, BY; Kjaer, SK; Levine, DA; Menon, U; Ness, RB; Pearce, CL; Pejovic, T; Rossing, MA; Wentzensen, N; Bean, YT; Bisogna, M; Brinton, LA; Carney, ME; Cunningham, JM; Cybulski, C; deFazio, A; Dicks, EM; Edwards, RP; Gayther, SA; Gentry-Maharaj, A; Gore, M; Iversen, ES; Jensen, A; Johnatty, SE; Lester, J; Lin, H-Y; Lissowska, J; Lubinski, J; Menkiszak, J; Modugno, F; Moysich, KB; Orlow, I; Pike, MC; Ramus, SJ; Song, H; Terry, KL; Thompson, PJ; Tyrer, JP; van den Berg, DJ; Vierkant, RA; Vitonis, AF; Walsh, C; Wilkens, LR; Wu, AH; Yang, H; Ziogas, A; Berchuck, A; Chenevix-Trench, G; Schildkraut, JM; Permuth-Wey, J; Phelan, CM; Pharoah, PDP; Fridley, BL; Sellers, TA; Goode, EL; Australian Ovarian Cancer Study Group,
MLA Citation
Winham, SJ, Pirie, A, Chen, YA, Larson, MC, Fogarty, ZC, Earp, MA, Anton-Culver, H, Bandera, EV, Cramer, D, Doherty, JA, Goodman, MT, Gronwald, J, Karlan, BY, Kjaer, SK, Levine, DA, Menon, U, Ness, RB, Pearce, CL, Pejovic, T, Rossing, MA, Wentzensen, N, Bean, YT, Bisogna, M, Brinton, LA, Carney, ME, Cunningham, JM, Cybulski, C, deFazio, A, Dicks, EM, Edwards, RP, Gayther, SA, Gentry-Maharaj, A, Gore, M, Iversen, ES, Jensen, A, Johnatty, SE, Lester, J, Lin, H-Y, Lissowska, J, Lubinski, J, Menkiszak, J, Modugno, F, Moysich, KB, Orlow, I, Pike, MC, Ramus, SJ, Song, H, Terry, KL, Thompson, PJ, Tyrer, JP, van den Berg, DJ, Vierkant, RA, Vitonis, AF, Walsh, C, Wilkens, LR, Wu, AH, Yang, H, Ziogas, A, Berchuck, A, Chenevix-Trench, G, Schildkraut, JM, Permuth-Wey, J, Phelan, CM, Pharoah, PDP, Fridley, BL, Sellers, TA, Goode, EL, and Australian Ovarian Cancer Study Group, . "Investigation of Exomic Variants Associated with Overall Survival in Ovarian Cancer." Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology 25.3 (March 2016): 446-454.
PMID
26747452
Source
epmc
Published In
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology
Volume
25
Issue
3
Publish Date
2016
Start Page
446
End Page
454
DOI
10.1158/1055-9965.EPI-15-0240

A targeted genetic association study of epithelial ovarian cancer susceptibility.

BACKGROUND:Genome-wide association studies have identified several common susceptibility alleles for epithelial ovarian cancer (EOC). To further understand EOC susceptibility, we examined previously ungenotyped candidate variants, including uncommon variants and those residing within known susceptibility loci. RESULTS:At nine of eleven previously published EOC susceptibility regions (2q31, 3q25, 5p15, 8q21, 8q24, 10p12, 17q12, 17q21.31, and 19p13), novel variants were identified that were more strongly associated with risk than previously reported variants. Beyond known susceptibility regions, no variants were found to be associated with EOC risk at genome-wide statistical significance (p <5x10(-8)), nor were any significant after Bonferroni correction for 17,000 variants (p< 3x10-6). METHODS:A customized genotyping array was used to assess over 17,000 variants in coding, non-coding, regulatory, and known susceptibility regions in 4,973 EOC cases and 5,640 controls from 13 independent studies. Susceptibility for EOC overall and for select histotypes was evaluated using logistic regression adjusted for age, study site, and population substructure. CONCLUSION:Given the novel variants identified within the 2q31, 3q25, 5p15, 8q21, 8q24, 10p12, 17q12, 17q21.31, and 19p13 regions, larger follow-up genotyping studies, using imputation where necessary, are needed for fine-mapping and confirmation of low frequency variants that fall below statistical significance.

Authors
Earp, M; Winham, SJ; Larson, N; Permuth, JB; Sicotte, H; Chien, J; Anton-Culver, H; Bandera, EV; Berchuck, A; Cook, LS; Cramer, D; Doherty, JA; Goodman, MT; Levine, DA; Monteiro, ANA; Ness, RB; Pearce, CL; Rossing, MA; Tworoger, SS; Wentzensen, N; Bisogna, M; Brinton, L; Brooks-Wilson, A; Carney, ME; Cunningham, JM; Edwards, RP; Fogarty, ZC; Iversen, ES; Kraft, P; Larson, MC; Le, ND; Lin, H-Y; Lissowska, J; Modugno, F; Moysich, KB; Olson, SH; Pike, MC; Poole, EM; Rider, DN; Terry, KL; Thompson, PJ; van den Berg, D; Vierkant, RA; Vitonis, AF; Wilkens, LR; Wu, AH; Yang, HP; Ziogas, A; Phelan, CM; Schildkraut, JM; Chen, YA; Sellers, TA; Fridley, BL; Goode, EL
MLA Citation
Earp, M, Winham, SJ, Larson, N, Permuth, JB, Sicotte, H, Chien, J, Anton-Culver, H, Bandera, EV, Berchuck, A, Cook, LS, Cramer, D, Doherty, JA, Goodman, MT, Levine, DA, Monteiro, ANA, Ness, RB, Pearce, CL, Rossing, MA, Tworoger, SS, Wentzensen, N, Bisogna, M, Brinton, L, Brooks-Wilson, A, Carney, ME, Cunningham, JM, Edwards, RP, Fogarty, ZC, Iversen, ES, Kraft, P, Larson, MC, Le, ND, Lin, H-Y, Lissowska, J, Modugno, F, Moysich, KB, Olson, SH, Pike, MC, Poole, EM, Rider, DN, Terry, KL, Thompson, PJ, van den Berg, D, Vierkant, RA, Vitonis, AF, Wilkens, LR, Wu, AH, Yang, HP, Ziogas, A, Phelan, CM, Schildkraut, JM, Chen, YA, Sellers, TA, Fridley, BL, and Goode, EL. "A targeted genetic association study of epithelial ovarian cancer susceptibility." Oncotarget 7.7 (February 2016): 7381-7389.
PMID
26848776
Source
epmc
Published In
Oncotarget
Volume
7
Issue
7
Publish Date
2016
Start Page
7381
End Page
7389
DOI
10.18632/oncotarget.7121

Germline polymorphisms in an enhancer of PSIP1 are associated with progression-free survival in epithelial ovarian cancer.

Women with epithelial ovarian cancer (EOC) are usually treated with platinum/taxane therapy after cytoreductive surgery but there is considerable inter-individual variation in response. To identify germline single-nucleotide polymorphisms (SNPs) that contribute to variations in individual responses to chemotherapy, we carried out a multi-phase genome-wide association study (GWAS) in 1,244 women diagnosed with serous EOC who were treated with the same first-line chemotherapy, carboplatin and paclitaxel. We identified two SNPs (rs7874043 and rs72700653) in TTC39B (best P=7x10-5, HR=1.90, for rs7874043) associated with progression-free survival (PFS). Functional analyses show that both SNPs lie in a putative regulatory element (PRE) that physically interacts with the promoters of PSIP1, CCDC171 and an alternative promoter of TTC39B. The C allele of rs7874043 is associated with poor PFS and showed increased binding of the Sp1 transcription factor, which is critical for chromatin interactions with PSIP1. Silencing of PSIP1 significantly impaired DNA damage-induced Rad51 nuclear foci and reduced cell viability in ovarian cancer lines. PSIP1 (PC4 and SFRS1 Interacting Protein 1) is known to protect cells from stress-induced apoptosis, and high expression is associated with poor PFS in EOC patients. We therefore suggest that the minor allele of rs7874043 confers poor PFS by increasing PSIP1 expression.

Authors
French, JD; Johnatty, SE; Lu, Y; Beesley, J; Gao, B; Kalimutho, M; Henderson, MJ; Russell, AJ; Kar, S; Chen, X; Hillman, KM; Kaufmann, S; Sivakumaran, H; O'Reilly, M; Wang, C; Korbie, DJ; Australian Ovarian Cancer Study Group, ; Australian Ovarian Cancer Study, ; Lambrechts, D; Despierre, E; Van Nieuwenhuysen, E; Lambrechts, S; Vergote, I; Karlan, B; Lester, J; Orsulic, S; Walsh, C; Fasching, PA; Beckmann, MW; Ekici, AB; Hein, A; Matsuo, K; Hosono, S; Pisterer, J; Hillemanns, P; Nakanishi, T; Yatabe, Y; Goodman, MT; Lurie, G; Matsuno, RK; Thompson, PJ; Pejovic, T; Bean, Y; Heitz, F; Harter, P; du Bois, A; Schwaab, I; Hogdall, E; Kjaer, SK; Jensen, A; Hogdall, C; Lundvall, L; Engelholm, SA; Brown, B; Flanagan, JM; Metcalf, MD; Siddiqui, N; Sellers, T; Fridley, B; Cunningham, J; Schildkraut, JM; Iversen, E; Weber, RP; Brennan, D; Berchuck, A; Pharoah, P; Harnett, P; Norris, MD; Haber, M; Goode, EL; Lee, JS; Khanna, KK; Meyer, KB; Chenevix-Trench, G; deFazio, A; Edwards, SL; MacGregor, S; Ovarian Cancer Association Consortium,
MLA Citation
French, JD, Johnatty, SE, Lu, Y, Beesley, J, Gao, B, Kalimutho, M, Henderson, MJ, Russell, AJ, Kar, S, Chen, X, Hillman, KM, Kaufmann, S, Sivakumaran, H, O'Reilly, M, Wang, C, Korbie, DJ, Australian Ovarian Cancer Study Group, , Australian Ovarian Cancer Study, , Lambrechts, D, Despierre, E, Van Nieuwenhuysen, E, Lambrechts, S, Vergote, I, Karlan, B, Lester, J, Orsulic, S, Walsh, C, Fasching, PA, Beckmann, MW, Ekici, AB, Hein, A, Matsuo, K, Hosono, S, Pisterer, J, Hillemanns, P, Nakanishi, T, Yatabe, Y, Goodman, MT, Lurie, G, Matsuno, RK, Thompson, PJ, Pejovic, T, Bean, Y, Heitz, F, Harter, P, du Bois, A, Schwaab, I, Hogdall, E, Kjaer, SK, Jensen, A, Hogdall, C, Lundvall, L, Engelholm, SA, Brown, B, Flanagan, JM, Metcalf, MD, Siddiqui, N, Sellers, T, Fridley, B, Cunningham, J, Schildkraut, JM, Iversen, E, Weber, RP, Brennan, D, Berchuck, A, Pharoah, P, Harnett, P, Norris, MD, Haber, M, Goode, EL, Lee, JS, Khanna, KK, Meyer, KB, Chenevix-Trench, G, deFazio, A, Edwards, SL, MacGregor, S, and Ovarian Cancer Association Consortium, . "Germline polymorphisms in an enhancer of PSIP1 are associated with progression-free survival in epithelial ovarian cancer." Oncotarget 7.6 (February 2016): 6353-6368.
PMID
26840454
Source
epmc
Published In
Oncotarget
Volume
7
Issue
6
Publish Date
2016
Start Page
6353
End Page
6368
DOI
10.18632/oncotarget.7047

Prospective Evaluation of Lymph Node Processing at Staging Surgery for High-Grade Endometrial Cancer

Authors
Ehrisman, JA; Abbott, S; Harmon, Z; Secord, AA; Berchuck, A; Lee, PS; Valea, FA; Broadwater, G; Li, X; Havrilesky, LJ; Hall, A
MLA Citation
Ehrisman, JA, Abbott, S, Harmon, Z, Secord, AA, Berchuck, A, Lee, PS, Valea, FA, Broadwater, G, Li, X, Havrilesky, LJ, and Hall, A. "Prospective Evaluation of Lymph Node Processing at Staging Surgery for High-Grade Endometrial Cancer." February 2016.
Source
wos-lite
Published In
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
Volume
29
Publish Date
2016
Start Page
282A
End Page
282A

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.

The K3326X variant in BRCA2 (BRCA2*c.9976A>T; p.Lys3326*; rs11571833) has been found to be associated with small increased risks of breast cancer. However, it is not clear to what extent linkage disequilibrium with fully pathogenic mutations might account for this association. There is scant information about the effect of K3326X in other hormone-related cancers.Using weighted logistic regression, we analyzed data from the large iCOGS study including 76 637 cancer case patients and 83 796 control patients to estimate odds ratios (ORw) and 95% confidence intervals (CIs) for K3326X variant carriers in relation to breast, ovarian, and prostate cancer risks, with weights defined as probability of not having a pathogenic BRCA2 variant. Using Cox proportional hazards modeling, we also examined the associations of K3326X with breast and ovarian cancer risks among 7183 BRCA1 variant carriers. All statistical tests were two-sided.The K3326X variant was associated with breast (ORw = 1.28, 95% CI = 1.17 to 1.40, P = 5.9x10(-) (6)) and invasive ovarian cancer (ORw = 1.26, 95% CI = 1.10 to 1.43, P = 3.8x10(-3)). These associations were stronger for serous ovarian cancer and for estrogen receptor-negative breast cancer (ORw = 1.46, 95% CI = 1.2 to 1.70, P = 3.4x10(-5) and ORw = 1.50, 95% CI = 1.28 to 1.76, P = 4.1x10(-5), respectively). For BRCA1 mutation carriers, there was a statistically significant inverse association of the K3326X variant with risk of ovarian cancer (HR = 0.43, 95% CI = 0.22 to 0.84, P = .013) but no association with breast cancer. No association with prostate cancer was observed.Our study provides evidence that the K3326X variant is associated with risk of developing breast and ovarian cancers independent of other pathogenic variants in BRCA2. Further studies are needed to determine the biological mechanism of action responsible for these associations.

Authors
Meeks, HD; Song, H; Michailidou, K; Bolla, MK; Dennis, J; Wang, Q; Barrowdale, D; Frost, D; EMBRACE, ; McGuffog, L; Ellis, S; Feng, B; Buys, SS; Hopper, JL; Southey, MC; Tesoriero, A; kConFab Investigators, ; James, PA; Bruinsma, F; Campbell, IG; Australia Ovarian Cancer Study Group, ; Broeks, A; Schmidt, MK; Hogervorst, FBL; HEBON, ; Beckman, MW; Fasching, PA; Fletcher, O; Johnson, N; Sawyer, EJ; Riboli, E; Banerjee, S; Menon, U; Tomlinson, I; Burwinkel, B; Hamann, U; Marme, F; Rudolph, A; Janavicius, R; Tihomirova, L; Tung, N; Garber, J; Cramer, D; Terry, KL; Poole, EM; Tworoger, SS; Dorfling, CM; van Rensburg, EJ; Godwin, AK; Guénel, P; Truong, T; GEMO Study Collaborators, ; Stoppa-Lyonnet, D; Damiola, F; Mazoyer, S; Sinilnikova, OM; Isaacs, C; Maugard, C; Bojesen, SE; Flyger, H; Gerdes, A-M; Hansen, TVO; Jensen, A; Kjaer, SK; Hogdall, C; Hogdall, E; Pedersen, IS; Thomassen, M; Benitez, J; González-Neira, A; Osorio, A; Hoya, MDL; Segura, PP; Diez, O; Lazaro, C; Brunet, J; Anton-Culver, H; Eunjung, L; John, EM; Neuhausen, SL; Ding, YC; Castillo, D; Weitzel, JN; Ganz, PA; Nussbaum, RL; Chan, SB; Karlan, BY; Lester, J; Wu, A; Gayther, S; Ramus, SJ; Sieh, W; Whittermore, AS; Monteiro, ANA; Phelan, CM; Terry, MB; Piedmonte, M; Offit, K; Robson, M; Levine, D; Moysich, KB; Cannioto, R; Olson, SH; Daly, MB; Nathanson, KL; Domchek, SM; Lu, KH; Liang, D; Hildebrant, MAT; Ness, R; Modugno, F; Pearce, L; Goodman, MT; Thompson, PJ; Brenner, H; Butterbach, K; Meindl, A; Hahnen, E; Wappenschmidt, B; Brauch, H; Brüning, T; Blomqvist, C; Khan, S; Nevanlinna, H; Pelttari, LM; Aittomäki, K; Butzow, R; Bogdanova, NV; Dörk, T; Lindblom, A; Margolin, S; Rantala, J; Kosma, V-M; Mannermaa, A; Lambrechts, D; Neven, P; Claes, KBM; Maerken, TV; Chang-Claude, J; Flesch-Janys, D; Heitz, F; Varon-Mateeva, R; Peterlongo, P; Radice, P; Viel, A; Barile, M; Peissel, B; Manoukian, S; Montagna, M; Oliani, C; Peixoto, A; Teixeira, MR; Collavoli, A; Hallberg, E; Olson, JE; Goode, EL; Hart, SN; Shimelis, H; Cunningham, JM; Giles, GG; Milne, RL; Healey, S; Tucker, K; Haiman, CA; Henderson, BE; Goldberg, MS; Tischkowitz, M; Simard, J; Soucy, P; Eccles, DM; Le, N; Borresen-Dale, A-L; Kristensen, V; Salvesen, HB; Bjorge, L; Bandera, EV; Risch, H; Zheng, W; Beeghly-Fadiel, A; Cai, H; Pylkäs, K; Tollenaar, RAEM; Ouweland, AMWVD; Andrulis, IL; Knight, JA; OCGN, ; Narod, S; Devilee, P; Winqvist, R; Figueroa, J; Greene, MH; Mai, PL; Loud, JT; García-Closas, M; Schoemaker, MJ; Czene, K; Darabi, H; McNeish, I; Siddiquil, N; Glasspool, R; Kwong, A; Park, SK; Teo, SH; Yoon, S-Y; Matsuo, K; Hosono, S; Woo, YL; Gao, Y-T; Foretova, L; Singer, CF; Rappaport-Feurhauser, C; Friedman, E; Laitman, Y; Rennert, G; Imyanitov, EN; Hulick, PJ; Olopade, OI; Senter, L; Olah, E; Doherty, JA; Schildkraut, J; Koppert, LB; Kiemeney, LA; Massuger, LFAG; Cook, LS; Pejovic, T; Li, J; Borg, A; Öfverholm, A; Rossing, MA; Wentzensen, N; Henriksson, K; Cox, A; Cross, SS; Pasini, BJ; Shah, M; Kabisch, M; Torres, D; Jakubowska, A; Lubinski, J; Gronwald, J; Agnarsson, BA; Kupryjanczyk, J; Moes-Sosnowska, J; Fostira, F; Konstantopoulou, I; Slager, S; Jones, M; PRostate cancer AssoCiation group To Investigate Cancer Associated aLterations in the genome, ; Antoniou, AC; Berchuck, A; Swerdlow, A; Chenevix-Trench, G; Dunning, AM; Pharoah, PDP; Hall, P; Easton, DF; Couch, FJ; Spurdle, AB; Goldgar, DE
MLA Citation
Meeks, HD, Song, H, Michailidou, K, Bolla, MK, Dennis, J, Wang, Q, Barrowdale, D, Frost, D, EMBRACE, , McGuffog, L, Ellis, S, Feng, B, Buys, SS, Hopper, JL, Southey, MC, Tesoriero, A, kConFab Investigators, , James, PA, Bruinsma, F, Campbell, IG, Australia Ovarian Cancer Study Group, , Broeks, A, Schmidt, MK, Hogervorst, FBL, HEBON, , Beckman, MW, Fasching, PA, Fletcher, O, Johnson, N, Sawyer, EJ, Riboli, E, Banerjee, S, Menon, U, Tomlinson, I, Burwinkel, B, Hamann, U, Marme, F, Rudolph, A, Janavicius, R, Tihomirova, L, Tung, N, Garber, J, Cramer, D, Terry, KL, Poole, EM, Tworoger, SS, Dorfling, CM, van Rensburg, EJ, Godwin, AK, Guénel, P, Truong, T, GEMO Study Collaborators, , Stoppa-Lyonnet, D, Damiola, F, Mazoyer, S, Sinilnikova, OM, Isaacs, C, Maugard, C, Bojesen, SE, Flyger, H, Gerdes, A-M, Hansen, TVO, Jensen, A, Kjaer, SK, Hogdall, C, Hogdall, E, Pedersen, IS, Thomassen, M, Benitez, J, González-Neira, A, Osorio, A, Hoya, MDL, Segura, PP, Diez, O, Lazaro, C, Brunet, J, Anton-Culver, H, Eunjung, L, John, EM, Neuhausen, SL, Ding, YC, Castillo, D, Weitzel, JN, Ganz, PA, Nussbaum, RL, Chan, SB, Karlan, BY, Lester, J, Wu, A, Gayther, S, Ramus, SJ, Sieh, W, Whittermore, AS, Monteiro, ANA, Phelan, CM, Terry, MB, Piedmonte, M, Offit, K, Robson, M, Levine, D, Moysich, KB, Cannioto, R, Olson, SH, Daly, MB, Nathanson, KL, Domchek, SM, Lu, KH, Liang, D, Hildebrant, MAT, Ness, R, Modugno, F, Pearce, L, Goodman, MT, Thompson, PJ, Brenner, H, Butterbach, K, Meindl, A, Hahnen, E, Wappenschmidt, B, Brauch, H, Brüning, T, Blomqvist, C, Khan, S, Nevanlinna, H, Pelttari, LM, Aittomäki, K, Butzow, R, Bogdanova, NV, Dörk, T, Lindblom, A, Margolin, S, Rantala, J, Kosma, V-M, Mannermaa, A, Lambrechts, D, Neven, P, Claes, KBM, Maerken, TV, Chang-Claude, J, Flesch-Janys, D, Heitz, F, Varon-Mateeva, R, Peterlongo, P, Radice, P, Viel, A, Barile, M, Peissel, B, Manoukian, S, Montagna, M, Oliani, C, Peixoto, A, Teixeira, MR, Collavoli, A, Hallberg, E, Olson, JE, Goode, EL, Hart, SN, Shimelis, H, Cunningham, JM, Giles, GG, Milne, RL, Healey, S, Tucker, K, Haiman, CA, Henderson, BE, Goldberg, MS, Tischkowitz, M, Simard, J, Soucy, P, Eccles, DM, Le, N, Borresen-Dale, A-L, Kristensen, V, Salvesen, HB, Bjorge, L, Bandera, EV, Risch, H, Zheng, W, Beeghly-Fadiel, A, Cai, H, Pylkäs, K, Tollenaar, RAEM, Ouweland, AMWVD, Andrulis, IL, Knight, JA, OCGN, , Narod, S, Devilee, P, Winqvist, R, Figueroa, J, Greene, MH, Mai, PL, Loud, JT, García-Closas, M, Schoemaker, MJ, Czene, K, Darabi, H, McNeish, I, Siddiquil, N, Glasspool, R, Kwong, A, Park, SK, Teo, SH, Yoon, S-Y, Matsuo, K, Hosono, S, Woo, YL, Gao, Y-T, Foretova, L, Singer, CF, Rappaport-Feurhauser, C, Friedman, E, Laitman, Y, Rennert, G, Imyanitov, EN, Hulick, PJ, Olopade, OI, Senter, L, Olah, E, Doherty, JA, Schildkraut, J, Koppert, LB, Kiemeney, LA, Massuger, LFAG, Cook, LS, Pejovic, T, Li, J, Borg, A, Öfverholm, A, Rossing, MA, Wentzensen, N, Henriksson, K, Cox, A, Cross, SS, Pasini, BJ, Shah, M, Kabisch, M, Torres, D, Jakubowska, A, Lubinski, J, Gronwald, J, Agnarsson, BA, Kupryjanczyk, J, Moes-Sosnowska, J, Fostira, F, Konstantopoulou, I, Slager, S, Jones, M, PRostate cancer AssoCiation group To Investigate Cancer Associated aLterations in the genome, , Antoniou, AC, Berchuck, A, Swerdlow, A, Chenevix-Trench, G, Dunning, AM, Pharoah, PDP, Hall, P, Easton, DF, Couch, FJ, Spurdle, AB, and Goldgar, DE. "BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers." Journal of the National Cancer Institute 108.2 (February 2016).
PMID
26586665
Source
epmc
Published In
Journal of the National Cancer Institute
Volume
108
Issue
2
Publish Date
2016
DOI
10.1093/jnci/djv315

Abstract B27: Investigation of small GTPase genes in epithelial ovarian cancer.

Authors
Lin, H-Y; Xiong, Y; Tyrer, J; Marchion, DC; Monteiro, AN; Berchuck, A; Schildkraut, JM; Goode, EL; Ramus, SJ; Gayther, SA; Pharoah, PD; Narod, SA; Sellers, TA; Phelan, CM
MLA Citation
Lin, H-Y, Xiong, Y, Tyrer, J, Marchion, DC, Monteiro, AN, Berchuck, A, Schildkraut, JM, Goode, EL, Ramus, SJ, Gayther, SA, Pharoah, PD, Narod, SA, Sellers, TA, and Phelan, CM. "Abstract B27: Investigation of small GTPase genes in epithelial ovarian cancer." Clinical Cancer Research 22.2 Supplement (January 15, 2016): B27-B27.
Source
crossref
Published In
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
Volume
22
Issue
2 Supplement
Publish Date
2016
Start Page
B27
End Page
B27
DOI
10.1158/1557-3265.OVCA15-B27

Evidence of a genetic link between endometriosis and ovarian cancer.

OBJECTIVE:To evaluate whether endometriosis-associated genetic variation affects risk of ovarian cancer. DESIGN:Pooled genetic analysis. SETTING:University hospital. PATIENT(S):Genetic data from 46,176 participants (15,361 ovarian cancer cases and 30,815 controls) from 41 ovarian cancer studies. INTERVENTION(S):None. MAIN OUTCOME MEASURE(S):Endometriosis-associated genetic variation and ovarian cancer. RESULT(S):There was significant evidence of an association between endometriosis-related genetic variation and ovarian cancer risk, especially for the high-grade serous and clear cell histotypes. Overall we observed 15 significant burden statistics, which was three times more than expected. CONCLUSION(S):By focusing on candidate regions from a phenotype associated with ovarian cancer, we have shown a clear genetic link between endometriosis and ovarian cancer that warrants further follow-up. The functional significance of the identified regions and SNPs is presently uncertain, though future fine mapping and histotype-specific functional analyses may shed light on the etiologies of both gynecologic conditions.

Authors
Lee, AW; Templeman, C; Stram, DA; Beesley, J; Tyrer, J; Berchuck, A; Pharoah, PP; Chenevix-Trench, G; Pearce, CL; Ovarian Cancer Association Consortium,
MLA Citation
Lee, AW, Templeman, C, Stram, DA, Beesley, J, Tyrer, J, Berchuck, A, Pharoah, PP, Chenevix-Trench, G, Pearce, CL, and Ovarian Cancer Association Consortium, . "Evidence of a genetic link between endometriosis and ovarian cancer." Fertility and Sterility 105.1 (January 2016): 35-43.e1-10-null.
PMID
26477498
Source
epmc
Published In
Fertility and Sterility
Volume
105
Issue
1
Publish Date
2016
Start Page
35-43.e1-10
DOI
10.1016/j.fertnstert.2015.09.023

Erratum: Corrigendum: Common variants at 19p13 are associated with susceptibility to ovarian cancer

Authors
Bolton, KL; Tyrer, J; Song, H; Ramus, SJ; Notaridou, M; Jones, C; Sher, T; Gentry-Maharaj, A; Wozniak, E; Tsai, Y-Y; Weidhaas, J; Paik, D; Van Den Berg, DJ; Stram, DO; Pearce, CL; Wu, AH; Brewster, W; Anton-Culver, H; Ziogas, A; Narod, SA; Levine, DA; Kaye, SB; Brown, R; Paul, J; Flanagan, J; Sieh, W; McGuire, V; Whittemore, AS; Campbell, I; Gore, ME; Lissowska, J; Yang, HP; Medrek, K; Gronwald, J; Lubinski, J; Jakubowska, A; Le, ND; Cook, LS; Kelemen, LE; Brooks-Wilson, A; Massuger, LFAG; Kiemeney, LA; Aben, KKH; van Altena, AM; Houlston, R; Tomlinson, I; Palmieri, RT; Moorman, PG; Schildkraut, J; Iversen, ES; Phelan, C; Vierkant, RA; Cunningham, JM; Goode, EL; Fridley, BL; Kruger-Kjaer, S; Blaeker, J; Hogdall, E; Hogdall, C; Gross, J; Karlan, BY; Ness, RB; Edwards, RP; Odunsi, K; Moyisch, KB; Baker, JA; Modugno, F; Heikkinenen, T; Butzow, R; Nevanlinna, H; Leminen, A; Bogdanova, N; Antonenkova, N; Doerk, T; Hillemanns, P; Dürst, M; Runnebaum, I; Thompson, PJ; Carney, ME; Goodman, MT; Lurie, G; Wang-Gohrke, S; Hein, R; Chang-Claude, J; Rossing, MA; Cushing-Haugen, KL; Doherty, J; Chen, C; Rafnar, T; Besenbacher, S; Sulem, P; Stefansson, K; Birrer, MJ; Terry, KL; Hernandez, D; Cramer, DW; Vergote, I; Amant, F; Lambrechts, D; Despierre, E; Fasching, PA; Beckmann, MW; Thiel, FC; Ekici, AB; Chen, X; Johnatty, SE; Webb, PM; Beesley, J; Chanock, S; Garcia-Closas, M; Sellers, T; Easton, DF; Berchuck, A; Chenevix-Trench, G; Pharoah, PDP; Gayther, SA
MLA Citation
Bolton, KL, Tyrer, J, Song, H, Ramus, SJ, Notaridou, M, Jones, C, Sher, T, Gentry-Maharaj, A, Wozniak, E, Tsai, Y-Y, Weidhaas, J, Paik, D, Van Den Berg, DJ, Stram, DO, Pearce, CL, Wu, AH, Brewster, W, Anton-Culver, H, Ziogas, A, Narod, SA, Levine, DA, Kaye, SB, Brown, R, Paul, J, Flanagan, J, Sieh, W, McGuire, V, Whittemore, AS, Campbell, I, Gore, ME, Lissowska, J, Yang, HP, Medrek, K, Gronwald, J, Lubinski, J, Jakubowska, A, Le, ND, Cook, LS, Kelemen, LE, Brooks-Wilson, A, Massuger, LFAG, Kiemeney, LA, Aben, KKH, van Altena, AM, Houlston, R, Tomlinson, I, Palmieri, RT, Moorman, PG, Schildkraut, J, Iversen, ES, Phelan, C, Vierkant, RA, Cunningham, JM, Goode, EL, Fridley, BL, Kruger-Kjaer, S, Blaeker, J, Hogdall, E, Hogdall, C, Gross, J, Karlan, BY, Ness, RB, Edwards, RP, Odunsi, K, Moyisch, KB, Baker, JA, Modugno, F, Heikkinenen, T, Butzow, R, Nevanlinna, H, Leminen, A, Bogdanova, N, Antonenkova, N, Doerk, T, Hillemanns, P, Dürst, M, Runnebaum, I, Thompson, PJ, Carney, ME, Goodman, MT, Lurie, G, Wang-Gohrke, S, Hein, R, Chang-Claude, J, Rossing, MA, Cushing-Haugen, KL, Doherty, J, Chen, C, Rafnar, T, Besenbacher, S, Sulem, P, Stefansson, K, Birrer, MJ, Terry, KL, Hernandez, D, Cramer, DW, Vergote, I, Amant, F, Lambrechts, D, Despierre, E, Fasching, PA, Beckmann, MW, Thiel, FC, Ekici, AB, Chen, X, Johnatty, SE, Webb, PM, Beesley, J, Chanock, S, Garcia-Closas, M, Sellers, T, Easton, DF, Berchuck, A, Chenevix-Trench, G, Pharoah, PDP, and Gayther, SA. "Erratum: Corrigendum: Common variants at 19p13 are associated with susceptibility to ovarian cancer." Nature Genetics 48.1 (January 2016): 101-101.
Source
crossref
Published In
Nature Genetics
Volume
48
Issue
1
Publish Date
2016
Start Page
101
End Page
101
DOI
10.1038/ng0116-101b

Genome-wide Analysis Identifies Novel Loci Associated with Ovarian Cancer Outcomes: Findings from the Ovarian Cancer Association Consortium.

PURPOSE:Chemotherapy resistance remains a major challenge in the treatment of ovarian cancer. We hypothesize that germline polymorphisms might be associated with clinical outcome. EXPERIMENTAL DESIGN:We analyzed approximately 2.8 million genotyped and imputed SNPs from the iCOGS experiment for progression-free survival (PFS) and overall survival (OS) in 2,901 European epithelial ovarian cancer (EOC) patients who underwent first-line treatment of cytoreductive surgery and chemotherapy regardless of regimen, and in a subset of 1,098 patients treated with ≥ 4 cycles of paclitaxel and carboplatin at standard doses. We evaluated the top SNPs in 4,434 EOC patients, including patients from The Cancer Genome Atlas. In addition, we conducted pathway analysis of all intragenic SNPs and tested their association with PFS and OS using gene set enrichment analysis. RESULTS:Five SNPs were significantly associated (P ≤ 1.0 × 10(-5)) with poorer outcomes in at least one of the four analyses, three of which, rs4910232 (11p15.3), rs2549714 (16q23), and rs6674079 (1q22), were located in long noncoding RNAs (lncRNAs) RP11-179A10.1, RP11-314O13.1, and RP11-284F21.8, respectively (P ≤ 7.1 × 10(-6)). ENCODE ChIP-seq data at 1q22 for normal ovary show evidence of histone modification around RP11-284F21.8, and rs6674079 is perfectly correlated with another SNP within the super-enhancer MEF2D, expression levels of which were reportedly associated with prognosis in another solid tumor. YAP1- and WWTR1 (TAZ)-stimulated gene expression and high-density lipoprotein (HDL)-mediated lipid transport pathways were associated with PFS and OS, respectively, in the cohort who had standard chemotherapy (pGSEA ≤ 6 × 10(-3)). CONCLUSIONS:We have identified SNPs in three lncRNAs that might be important targets for novel EOC therapies.

Authors
Johnatty, SE; Tyrer, JP; Kar, S; Beesley, J; Lu, Y; Gao, B; Fasching, PA; Hein, A; Ekici, AB; Beckmann, MW; Lambrechts, D; Van Nieuwenhuysen, E; Vergote, I; Lambrechts, S; Rossing, MA; Doherty, JA; Chang-Claude, J; Modugno, F; Ness, RB; Moysich, KB; Levine, DA; Kiemeney, LA; Massuger, LFAG; Gronwald, J; Lubiński, J; Jakubowska, A; Cybulski, C; Brinton, L; Lissowska, J; Wentzensen, N; Song, H; Rhenius, V; Campbell, I; Eccles, D; Sieh, W; Whittemore, AS; McGuire, V; Rothstein, JH; Sutphen, R; Anton-Culver, H; Ziogas, A; Gayther, SA; Gentry-Maharaj, A; Menon, U; Ramus, SJ; Pearce, CL; Pike, MC; Stram, DO; Wu, AH; Kupryjanczyk, J; Dansonka-Mieszkowska, A; Rzepecka, IK; Spiewankiewicz, B; Goodman, MT; Wilkens, LR; Carney, ME; Thompson, PJ; Heitz, F; du Bois, A; Schwaab, I; Harter, P; Pisterer, J; Hillemanns, P; AGO Study Group, ; Karlan, BY; Walsh, C; Lester, J; Orsulic, S; Winham, SJ; Earp, M; Larson, MC; Fogarty, ZC; Høgdall, E; Jensen, A; Kjaer, SK; Fridley, BL; Cunningham, JM; Vierkant, RA; Schildkraut, JM; Iversen, ES; Terry, KL; Cramer, DW; Bandera, EV; Orlow, I; Pejovic, T; Bean, Y; Høgdall, C; Lundvall, L; McNeish, I; Paul, J; Carty, K; Siddiqui, N; Glasspool, R; Sellers, T; Kennedy, C; Chiew, Y-E; Berchuck, A; MacGregor, S; Pharoah, PDP; Goode, EL; deFazio, A; Webb, PM; Chenevix-Trench, G; Australian Ovarian Cancer Study Group,
MLA Citation
Johnatty, SE, Tyrer, JP, Kar, S, Beesley, J, Lu, Y, Gao, B, Fasching, PA, Hein, A, Ekici, AB, Beckmann, MW, Lambrechts, D, Van Nieuwenhuysen, E, Vergote, I, Lambrechts, S, Rossing, MA, Doherty, JA, Chang-Claude, J, Modugno, F, Ness, RB, Moysich, KB, Levine, DA, Kiemeney, LA, Massuger, LFAG, Gronwald, J, Lubiński, J, Jakubowska, A, Cybulski, C, Brinton, L, Lissowska, J, Wentzensen, N, Song, H, Rhenius, V, Campbell, I, Eccles, D, Sieh, W, Whittemore, AS, McGuire, V, Rothstein, JH, Sutphen, R, Anton-Culver, H, Ziogas, A, Gayther, SA, Gentry-Maharaj, A, Menon, U, Ramus, SJ, Pearce, CL, Pike, MC, Stram, DO, Wu, AH, Kupryjanczyk, J, Dansonka-Mieszkowska, A, Rzepecka, IK, Spiewankiewicz, B, Goodman, MT, Wilkens, LR, Carney, ME, Thompson, PJ, Heitz, F, du Bois, A, Schwaab, I, Harter, P, Pisterer, J, Hillemanns, P, AGO Study Group, , Karlan, BY, Walsh, C, Lester, J, Orsulic, S, Winham, SJ, Earp, M, Larson, MC, Fogarty, ZC, Høgdall, E, Jensen, A, Kjaer, SK, Fridley, BL, Cunningham, JM, Vierkant, RA, Schildkraut, JM, Iversen, ES, Terry, KL, Cramer, DW, Bandera, EV, Orlow, I, Pejovic, T, Bean, Y, Høgdall, C, Lundvall, L, McNeish, I, Paul, J, Carty, K, Siddiqui, N, Glasspool, R, Sellers, T, Kennedy, C, Chiew, Y-E, Berchuck, A, MacGregor, S, Pharoah, PDP, Goode, EL, deFazio, A, Webb, PM, Chenevix-Trench, G, and Australian Ovarian Cancer Study Group, . "Genome-wide Analysis Identifies Novel Loci Associated with Ovarian Cancer Outcomes: Findings from the Ovarian Cancer Association Consortium." Clinical Cancer Research : an Official Journal of the American Association for Cancer Research 21.23 (December 2015): 5264-5276.
PMID
26152742
Source
epmc
Published In
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
Volume
21
Issue
23
Publish Date
2015
Start Page
5264
End Page
5276
DOI
10.1158/1078-0432.CCR-15-0632

Epithelial-Mesenchymal Transition (EMT) Gene Variants and Epithelial Ovarian Cancer (EOC) Risk.

Epithelial-mesenchymal transition (EMT) is a process whereby epithelial cells assume mesenchymal characteristics to facilitate cancer metastasis. However, EMT also contributes to the initiation and development of primary tumors. Prior studies that explored the hypothesis that EMT gene variants contribute to epithelial ovarian carcinoma (EOC) risk have been based on small sample sizes and none have sought replication in an independent population. We screened 15,816 single-nucleotide polymorphisms (SNPs) in 296 genes in a discovery phase using data from a genome-wide association study of EOC among women of European ancestry (1,947 cases and 2,009 controls) and identified 793 variants in 278 EMT-related genes that were nominally (P < 0.05) associated with invasive EOC. These SNPs were then genotyped in a larger study of 14,525 invasive-cancer patients and 23,447 controls. A P-value <0.05 and a false discovery rate (FDR) <0.2 were considered statistically significant. In the larger dataset, GPC6/GPC5 rs17702471 was associated with the endometrioid subtype among Caucasians (odds ratio (OR) = 1.16, 95% CI = 1.07-1.25, P = 0.0003, FDR = 0.19), whereas F8 rs7053448 (OR = 1.69, 95% CI = 1.27-2.24, P = 0.0003, FDR = 0.12), F8 rs7058826 (OR = 1.69, 95% CI = 1.27-2.24, P = 0.0003, FDR = 0.12), and CAPN13 rs1983383 (OR = 0.79, 95% CI = 0.69-0.90, P = 0.0005, FDR = 0.12) were associated with combined invasive EOC among Asians. In silico functional analyses revealed that GPC6/GPC5 rs17702471 coincided with DNA regulatory elements. These results suggest that EMT gene variants do not appear to play a significant role in the susceptibility to EOC.

Authors
Amankwah, EK; Lin, H-Y; Tyrer, JP; Lawrenson, K; Dennis, J; Chornokur, G; Aben, KKH; Anton-Culver, H; Antonenkova, N; Bruinsma, F; Bandera, EV; Bean, YT; Beckmann, MW; Bisogna, M; Bjorge, L; Bogdanova, N; Brinton, LA; Brooks-Wilson, A; Bunker, CH; Butzow, R; Campbell, IG; Carty, K; Chen, Z; Chen, YA; Chang-Claude, J; Cook, LS; Cramer, DW; Cunningham, JM; Cybulski, C; Dansonka-Mieszkowska, A; du Bois, A; Despierre, E; Dicks, E; Doherty, JA; Dörk, T; Dürst, M; Easton, DF; Eccles, DM; Edwards, RP; Ekici, AB; Fasching, PA; Fridley, BL; Gao, Y-T; Gentry-Maharaj, A; Giles, GG; Glasspool, R; Goodman, MT; Gronwald, J; Harrington, P; Harter, P; Hasmad, HN; Hein, A; Heitz, F; Hildebrandt, MAT; Hillemanns, P; Hogdall, CK; Hogdall, E; Hosono, S; Iversen, ES; Jakubowska, A; Jensen, A; Ji, B-T; Karlan, BY; Jim, H; Kellar, M; Kiemeney, LA; Krakstad, C; Kjaer, SK; Kupryjanczyk, J; Lambrechts, D; Lambrechts, S; Le, ND; Lee, AW; Lele, S; Leminen, A; Lester, J; Levine, DA; Liang, D; Lim, BK; Lissowska, J; Lu, K; Lubinski, J; Lundvall, L; Massuger, LFAG; Matsuo, K; McGuire, V; McLaughlin, JR; McNeish, I; Menon, U; Milne, RL; Modugno, F; Moysich, KB; Ness, RB; Nevanlinna, H; Eilber, U; Odunsi, K; Olson, SH; Orlow, I; Orsulic, S; Weber, RP; Paul, J; Pearce, CL; Pejovic, T; Pelttari, LM; Permuth-Wey, J; Pike, MC; Poole, EM; Risch, HA; Rosen, B; Rossing, MA; Rothstein, JH; Rudolph, A; Runnebaum, IB; Rzepecka, IK; Salvesen, HB; Schernhammer, E; Schwaab, I; Shu, X-O; Shvetsov, YB; Siddiqui, N; Sieh, W; Song, H; Southey, MC; Spiewankiewicz, B; Sucheston-Campbell, L; Teo, S-H; Terry, KL; Thompson, PJ; Thomsen, L; Tangen, IL; Tworoger, SS; van Altena, AM; Vierkant, RA; Vergote, I; Walsh, CS; Wang-Gohrke, S; Wentzensen, N; Whittemore, AS; Wicklund, KG; Wilkens, LR; Wu, AH; Wu, X; Woo, Y-L; Yang, H; Zheng, W; Ziogas, A; Kelemen, LE; Berchuck, A; Georgia Chenevix-Trench on behalf of the AOCS management group, ; Schildkraut, JM; Ramus, SJ; Goode, EL; Monteiro, ANA; Gayther, SA; Narod, SA; Pharoah, PDP; Sellers, TA; Phelan, CM
MLA Citation
Amankwah, EK, Lin, H-Y, Tyrer, JP, Lawrenson, K, Dennis, J, Chornokur, G, Aben, KKH, Anton-Culver, H, Antonenkova, N, Bruinsma, F, Bandera, EV, Bean, YT, Beckmann, MW, Bisogna, M, Bjorge, L, Bogdanova, N, Brinton, LA, Brooks-Wilson, A, Bunker, CH, Butzow, R, Campbell, IG, Carty, K, Chen, Z, Chen, YA, Chang-Claude, J, Cook, LS, Cramer, DW, Cunningham, JM, Cybulski, C, Dansonka-Mieszkowska, A, du Bois, A, Despierre, E, Dicks, E, Doherty, JA, Dörk, T, Dürst, M, Easton, DF, Eccles, DM, Edwards, RP, Ekici, AB, Fasching, PA, Fridley, BL, Gao, Y-T, Gentry-Maharaj, A, Giles, GG, Glasspool, R, Goodman, MT, Gronwald, J, Harrington, P, Harter, P, Hasmad, HN, Hein, A, Heitz, F, Hildebrandt, MAT, Hillemanns, P, Hogdall, CK, Hogdall, E, Hosono, S, Iversen, ES, Jakubowska, A, Jensen, A, Ji, B-T, Karlan, BY, Jim, H, Kellar, M, Kiemeney, LA, Krakstad, C, Kjaer, SK, Kupryjanczyk, J, Lambrechts, D, Lambrechts, S, Le, ND, Lee, AW, Lele, S, Leminen, A, Lester, J, Levine, DA, Liang, D, Lim, BK, Lissowska, J, Lu, K, Lubinski, J, Lundvall, L, Massuger, LFAG, Matsuo, K, McGuire, V, McLaughlin, JR, McNeish, I, Menon, U, Milne, RL, Modugno, F, Moysich, KB, Ness, RB, Nevanlinna, H, Eilber, U, Odunsi, K, Olson, SH, Orlow, I, Orsulic, S, Weber, RP, Paul, J, Pearce, CL, Pejovic, T, Pelttari, LM, Permuth-Wey, J, Pike, MC, Poole, EM, Risch, HA, Rosen, B, Rossing, MA, Rothstein, JH, Rudolph, A, Runnebaum, IB, Rzepecka, IK, Salvesen, HB, Schernhammer, E, Schwaab, I, Shu, X-O, Shvetsov, YB, Siddiqui, N, Sieh, W, Song, H, Southey, MC, Spiewankiewicz, B, Sucheston-Campbell, L, Teo, S-H, Terry, KL, Thompson, PJ, Thomsen, L, Tangen, IL, Tworoger, SS, van Altena, AM, Vierkant, RA, Vergote, I, Walsh, CS, Wang-Gohrke, S, Wentzensen, N, Whittemore, AS, Wicklund, KG, Wilkens, LR, Wu, AH, Wu, X, Woo, Y-L, Yang, H, Zheng, W, Ziogas, A, Kelemen, LE, Berchuck, A, Georgia Chenevix-Trench on behalf of the AOCS management group, , Schildkraut, JM, Ramus, SJ, Goode, EL, Monteiro, ANA, Gayther, SA, Narod, SA, Pharoah, PDP, Sellers, TA, and Phelan, CM. "Epithelial-Mesenchymal Transition (EMT) Gene Variants and Epithelial Ovarian Cancer (EOC) Risk." Genetic Epidemiology 39.8 (December 2015): 689-697.
PMID
26399219
Source
epmc
Published In
Genetic Epidemiology
Volume
39
Issue
8
Publish Date
2015
Start Page
689
End Page
697
DOI
10.1002/gepi.21921

Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer.

Genome-wide association studies have identified 20 genomic regions associated with risk of epithelial ovarian cancer (EOC), but many additional risk variants may exist. Here, we evaluated associations between common genetic variants [single nucleotide polymorphisms (SNPs) and indels] in DNA repair genes and EOC risk. We genotyped 2896 common variants at 143 gene loci in DNA samples from 15 397 patients with invasive EOC and controls. We found evidence of associations with EOC risk for variants at FANCA, EXO1, E2F4, E2F2, CREB5 and CHEK2 genes (P ≤ 0.001). The strongest risk association was for CHEK2 SNP rs17507066 with serous EOC (P = 4.74 x 10(-7)). Additional genotyping and imputation of genotypes from the 1000 genomes project identified a slightly more significant association for CHEK2 SNP rs6005807 (r (2) with rs17507066 = 0.84, odds ratio (OR) 1.17, 95% CI 1.11-1.24, P = 1.1×10(-7)). We identified 293 variants in the region with likelihood ratios of less than 1:100 for representing the causal variant. Functional annotation identified 25 candidate SNPs that alter transcription factor binding sites within regulatory elements active in EOC precursor tissues. In The Cancer Genome Atlas dataset, CHEK2 gene expression was significantly higher in primary EOCs compared to normal fallopian tube tissues (P = 3.72×10(-8)). We also identified an association between genotypes of the candidate causal SNP rs12166475 (r (2) = 0.99 with rs6005807) and CHEK2 expression (P = 2.70×10(-8)). These data suggest that common variants at 22q12.1 are associated with risk of serous EOC and CHEK2 as a plausible target susceptibility gene.

Authors
Lawrenson, K; Iversen, ES; Tyrer, J; Weber, RP; Concannon, P; Hazelett, DJ; Li, Q; Marks, JR; Berchuck, A; Lee, JM; Aben, KKH; Anton-Culver, H; Antonenkova, N; Australian Cancer Study (Ovarian Cancer), ; Australian Ovarian Cancer Study Group, ; Bandera, EV; Bean, Y; Beckmann, MW; Bisogna, M; Bjorge, L; Bogdanova, N; Brinton, LA; Brooks-Wilson, A; Bruinsma, F; Butzow, R; Campbell, IG; Carty, K; Chang-Claude, J; Chenevix-Trench, G; Chen, A; Chen, Z; Cook, LS; Cramer, DW; Cunningham, JM; Cybulski, C; Plisiecka-Halasa, J; Dennis, J; Dicks, E; Doherty, JA; Dörk, T; du Bois, A; Eccles, D; Easton, DT; Edwards, RP; Eilber, U; Ekici, AB; Fasching, PA; Fridley, BL; Gao, Y-T; Gentry-Maharaj, A; Giles, GG; Glasspool, R; Goode, EL; Goodman, MT; Gronwald, J; Harter, P; Hasmad, HN; Hein, A; Heitz, F; Hildebrandt, MAT; Hillemanns, P; Hogdall, E; Hogdall, C; Hosono, S; Jakubowska, A; Paul, J; Jensen, A; Karlan, BY; Kjaer, SK; Kelemen, LE; Kellar, M; Kelley, JL; Kiemeney, LA; Krakstad, C; Lambrechts, D; Lambrechts, S; Le, ND; Lee, AW; Cannioto, R; Leminen, A; Lester, J; Levine, DA; Liang, D; Lissowska, J; Lu, K; Lubinski, J; Lundvall, L; Massuger, LFAG; Matsuo, K; McGuire, V; McLaughlin, JR; Nevanlinna, H; McNeish, I; Menon, U; Modugno, F; Moysich, KB; Narod, SA; Nedergaard, L; Ness, RB; Noor Azmi, MA; Odunsi, K; Olson, SH; Orlow, I; Orsulic, S; Pearce, CL; Pejovic, T; Pelttari, LM; Permuth-Wey, J; Phelan, CM; Pike, MC; Poole, EM; Ramus, SJ; Risch, HA; Rosen, B; Rossing, MA; Rothstein, JH; Rudolph, A; Runnebaum, IB; Rzepecka, IK; Salvesen, HB; Budzilowska, A; Sellers, TA; Shu, X-O; Shvetsov, YB; Siddiqui, N; Sieh, W; Song, H; Southey, MC; Sucheston, L; Tangen, IL; Teo, S-H; Terry, KL; Thompson, PJ; Timorek, A; Tworoger, SS; Van Nieuwenhuysen, E; Vergote, I; Vierkant, RA; Wang-Gohrke, S; Walsh, C; Wentzensen, N; Whittemore, AS; Wicklund, KG; Wilkens, LR; Woo, Y-L; Wu, X; Wu, AH; Yang, H; Zheng, W; Ziogas, A; Coetzee, GA; Freedman, ML; Monteiro, ANA; Moes-Sosnowska, J; Kupryjanczyk, J; Pharoah, PD; Gayther, SA; Schildkraut, JM
MLA Citation
Lawrenson, K, Iversen, ES, Tyrer, J, Weber, RP, Concannon, P, Hazelett, DJ, Li, Q, Marks, JR, Berchuck, A, Lee, JM, Aben, KKH, Anton-Culver, H, Antonenkova, N, Australian Cancer Study (Ovarian Cancer), , Australian Ovarian Cancer Study Group, , Bandera, EV, Bean, Y, Beckmann, MW, Bisogna, M, Bjorge, L, Bogdanova, N, Brinton, LA, Brooks-Wilson, A, Bruinsma, F, Butzow, R, Campbell, IG, Carty, K, Chang-Claude, J, Chenevix-Trench, G, Chen, A, Chen, Z, Cook, LS, Cramer, DW, Cunningham, JM, Cybulski, C, Plisiecka-Halasa, J, Dennis, J, Dicks, E, Doherty, JA, Dörk, T, du Bois, A, Eccles, D, Easton, DT, Edwards, RP, Eilber, U, Ekici, AB, Fasching, PA, Fridley, BL, Gao, Y-T, Gentry-Maharaj, A, Giles, GG, Glasspool, R, Goode, EL, Goodman, MT, Gronwald, J, Harter, P, Hasmad, HN, Hein, A, Heitz, F, Hildebrandt, MAT, Hillemanns, P, Hogdall, E, Hogdall, C, Hosono, S, Jakubowska, A, Paul, J, Jensen, A, Karlan, BY, Kjaer, SK, Kelemen, LE, Kellar, M, Kelley, JL, Kiemeney, LA, Krakstad, C, Lambrechts, D, Lambrechts, S, Le, ND, Lee, AW, Cannioto, R, Leminen, A, Lester, J, Levine, DA, Liang, D, Lissowska, J, Lu, K, Lubinski, J, Lundvall, L, Massuger, LFAG, Matsuo, K, McGuire, V, McLaughlin, JR, Nevanlinna, H, McNeish, I, Menon, U, Modugno, F, Moysich, KB, Narod, SA, Nedergaard, L, Ness, RB, Noor Azmi, MA, Odunsi, K, Olson, SH, Orlow, I, Orsulic, S, Pearce, CL, Pejovic, T, Pelttari, LM, Permuth-Wey, J, Phelan, CM, Pike, MC, Poole, EM, Ramus, SJ, Risch, HA, Rosen, B, Rossing, MA, Rothstein, JH, Rudolph, A, Runnebaum, IB, Rzepecka, IK, Salvesen, HB, Budzilowska, A, Sellers, TA, Shu, X-O, Shvetsov, YB, Siddiqui, N, Sieh, W, Song, H, Southey, MC, Sucheston, L, Tangen, IL, Teo, S-H, Terry, KL, Thompson, PJ, Timorek, A, Tworoger, SS, Van Nieuwenhuysen, E, Vergote, I, Vierkant, RA, Wang-Gohrke, S, Walsh, C, Wentzensen, N, Whittemore, AS, Wicklund, KG, Wilkens, LR, Woo, Y-L, Wu, X, Wu, AH, Yang, H, Zheng, W, Ziogas, A, Coetzee, GA, Freedman, ML, Monteiro, ANA, Moes-Sosnowska, J, Kupryjanczyk, J, Pharoah, PD, Gayther, SA, and Schildkraut, JM. "Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer." Carcinogenesis 36.11 (November 2015): 1341-1353.
PMID
26424751
Source
epmc
Published In
Carcinogenesis
Volume
36
Issue
11
Publish Date
2015
Start Page
1341
End Page
1353
DOI
10.1093/carcin/bgv138

Prognostic significance of differential expression of angiogenic genes in women with high-grade serous ovarian carcinoma.

To identify angiogenic biomarkers associated with tumor angiogenesis and clinical outcome in high-grade serous ovarian cancer (HGSC).51 HGSC samples were analyzed using Affymetrix HG-U133A microarray. Microvessel density (MVD) counts were determined using CD31 and CD105. Associations between mRNA expression levels and overall survival were assessed using rank score statistic. Effect size was estimated as a hazard ratio (HR) under a proportional hazard model. The Storey q-value method was used to account for multiple testing within the false-discovery rate (FDR) framework. Publicly available databases including TCGA and GSE were used for external confirmation.Thirty-one angiogenic-related genes were significantly associated with survival (q≤0.05). Of these 31 genes, 4 were also associated with outcome in the TCGA data: AKT1 (q=0.02; TCGA p=0.01, HR=0.8), CD44 (q=0.003; TCGA p=0.05, HR=0.9), EPHB2 (q=0.01; TCGA p=0.05, HR=1.2), and ERBB2 (q=0.02; TCGA p=0.05, HR=1.2). While 5 were associated with outcome in the GSE database: FLT1 (q=0.03; GSE26712 p=0.01, HR=3.1); PF4 (q=0.02; GSE26712 p=0.01, HR=3.0); NRP1 (q=0.02; GSE26712 p<0.04, HR>1.4); COL4A3 (q=0.04; GSE26712 p=0.03, HR=1.3); and ANGPTL3 (q=0.02; GSE14764 p=0.02, HR=1.5). High AKT1 and CD44 were associated with longer survival. In contrast, high expression of EPHB2, ERBB2, FLT1; PF4, NRP1, COL4A3, and ANGPTL3 were associated with shorter survival. CD105-MVD and CD31-MVD were not significantly associated with angiogenic gene expression.Thirty-one angiogenic-related genes were associated with survival in advanced HGSC and nine of these genes were confirmed in independent publicly available databases.

Authors
Siamakpour-Reihani, S; Owzar, K; Jiang, C; Turner, T; Deng, Y; Bean, SM; Horton, JK; Berchuck, A; Marks, JR; Dewhirst, MW; Alvarez Secord, A
MLA Citation
Siamakpour-Reihani, S, Owzar, K, Jiang, C, Turner, T, Deng, Y, Bean, SM, Horton, JK, Berchuck, A, Marks, JR, Dewhirst, MW, and Alvarez Secord, A. "Prognostic significance of differential expression of angiogenic genes in women with high-grade serous ovarian carcinoma." Gynecologic oncology 139.1 (October 2015): 23-29.
PMID
26260910
Source
epmc
Published In
Gynecologic Oncology
Volume
139
Issue
1
Publish Date
2015
Start Page
23
End Page
29
DOI
10.1016/j.ygyno.2015.08.001

Network-Based Integration of GWAS and Gene Expression Identifies a HOX-Centric Network Associated with Serous Ovarian Cancer Risk.

BACKGROUND:Genome-wide association studies (GWAS) have so far reported 12 loci associated with serous epithelial ovarian cancer (EOC) risk. We hypothesized that some of these loci function through nearby transcription factor (TF) genes and that putative target genes of these TFs as identified by coexpression may also be enriched for additional EOC risk associations. METHODS:We selected TF genes within 1 Mb of the top signal at the 12 genome-wide significant risk loci. Mutual information, a form of correlation, was used to build networks of genes strongly coexpressed with each selected TF gene in the unified microarray dataset of 489 serous EOC tumors from The Cancer Genome Atlas. Genes represented in this dataset were subsequently ranked using a gene-level test based on results for germline SNPs from a serous EOC GWAS meta-analysis (2,196 cases/4,396 controls). RESULTS:Gene set enrichment analysis identified six networks centered on TF genes (HOXB2, HOXB5, HOXB6, HOXB7 at 17q21.32 and HOXD1, HOXD3 at 2q31) that were significantly enriched for genes from the risk-associated end of the ranked list (P < 0.05 and FDR < 0.05). These results were replicated (P < 0.05) using an independent association study (7,035 cases/21,693 controls). Genes underlying enrichment in the six networks were pooled into a combined network. CONCLUSION:We identified a HOX-centric network associated with serous EOC risk containing several genes with known or emerging roles in serous EOC development. IMPACT:Network analysis integrating large, context-specific datasets has the potential to offer mechanistic insights into cancer susceptibility and prioritize genes for experimental characterization.

Authors
Kar, SP; Tyrer, JP; Li, Q; Lawrenson, K; Aben, KKH; Anton-Culver, H; Antonenkova, N; Chenevix-Trench, G; Australian Cancer Study, ; Australian Ovarian Cancer Study Group, ; Baker, H; Bandera, EV; Bean, YT; Beckmann, MW; Berchuck, A; Bisogna, M; Bjørge, L; Bogdanova, N; Brinton, L; Brooks-Wilson, A; Butzow, R; Campbell, I; Carty, K; Chang-Claude, J; Chen, YA; Chen, Z; Cook, LS; Cramer, D; Cunningham, JM; Cybulski, C; Dansonka-Mieszkowska, A; Dennis, J; Dicks, E; Doherty, JA; Dörk, T; du Bois, A; Dürst, M; Eccles, D; Easton, DF; Edwards, RP; Ekici, AB; Fasching, PA; Fridley, BL; Gao, Y-T; Gentry-Maharaj, A; Giles, GG; Glasspool, R; Goode, EL; Goodman, MT; Grownwald, J; Harrington, P; Harter, P; Hein, A; Heitz, F; Hildebrandt, MAT; Hillemanns, P; Hogdall, E; Hogdall, CK; Hosono, S; Iversen, ES; Jakubowska, A; Paul, J; Jensen, A; Ji, B-T; Karlan, BY; Kjaer, SK; Kelemen, LE; Kellar, M; Kelley, J; Kiemeney, LA; Krakstad, C; Kupryjanczyk, J; Lambrechts, D; Lambrechts, S; Le, ND; Lee, AW; Lele, S; Leminen, A; Lester, J; Levine, DA; Liang, D; Lissowska, J; Lu, K; Lubinski, J; Lundvall, L; Massuger, L; Matsuo, K; McGuire, V; McLaughlin, JR; McNeish, IA; Menon, U; Modugno, F; Moysich, KB; Narod, SA; Nedergaard, L; Ness, RB; Nevanlinna, H; Odunsi, K; Olson, SH; Orlow, I; Orsulic, S; Weber, RP; Pearce, CL; Pejovic, T; Pelttari, LM; Permuth-Wey, J; Phelan, CM; Pike, MC; Poole, EM; Ramus, SJ; Risch, HA; Rosen, B; Rossing, MA; Rothstein, JH; Rudolph, A; Runnebaum, IB; Rzepecka, IK; Salvesen, HB; Schildkraut, JM; Schwaab, I; Shu, X-O; Shvetsov, YB; Siddiqui, N; Sieh, W; Song, H; Southey, MC; Sucheston-Campbell, LE; Tangen, IL; Teo, S-H; Terry, KL; Thompson, PJ; Timorek, A; Tsai, Y-Y; Tworoger, SS; van Altena, AM; Van Nieuwenhuysen, E; Vergote, I; Vierkant, RA; Wang-Gohrke, S; Walsh, C; Wentzensen, N; Whittemore, AS; Wicklund, KG; Wilkens, LR; Woo, Y-L; Wu, X; Wu, A; Yang, H; Zheng, W; Ziogas, A; Sellers, TA; Monteiro, ANA; Freedman, ML; Gayther, SA; Pharoah, PDP
MLA Citation
Kar, SP, Tyrer, JP, Li, Q, Lawrenson, K, Aben, KKH, Anton-Culver, H, Antonenkova, N, Chenevix-Trench, G, Australian Cancer Study, , Australian Ovarian Cancer Study Group, , Baker, H, Bandera, EV, Bean, YT, Beckmann, MW, Berchuck, A, Bisogna, M, Bjørge, L, Bogdanova, N, Brinton, L, Brooks-Wilson, A, Butzow, R, Campbell, I, Carty, K, Chang-Claude, J, Chen, YA, Chen, Z, Cook, LS, Cramer, D, Cunningham, JM, Cybulski, C, Dansonka-Mieszkowska, A, Dennis, J, Dicks, E, Doherty, JA, Dörk, T, du Bois, A, Dürst, M, Eccles, D, Easton, DF, Edwards, RP, Ekici, AB, Fasching, PA, Fridley, BL, Gao, Y-T, Gentry-Maharaj, A, Giles, GG, Glasspool, R, Goode, EL, Goodman, MT, Grownwald, J, Harrington, P, Harter, P, Hein, A, Heitz, F, Hildebrandt, MAT, Hillemanns, P, Hogdall, E, Hogdall, CK, Hosono, S, Iversen, ES, Jakubowska, A, Paul, J, Jensen, A, Ji, B-T, Karlan, BY, Kjaer, SK, Kelemen, LE, Kellar, M, Kelley, J, Kiemeney, LA, Krakstad, C, Kupryjanczyk, J, Lambrechts, D, Lambrechts, S, Le, ND, Lee, AW, Lele, S, Leminen, A, Lester, J, Levine, DA, Liang, D, Lissowska, J, Lu, K, Lubinski, J, Lundvall, L, Massuger, L, Matsuo, K, McGuire, V, McLaughlin, JR, McNeish, IA, Menon, U, Modugno, F, Moysich, KB, Narod, SA, Nedergaard, L, Ness, RB, Nevanlinna, H, Odunsi, K, Olson, SH, Orlow, I, Orsulic, S, Weber, RP, Pearce, CL, Pejovic, T, Pelttari, LM, Permuth-Wey, J, Phelan, CM, Pike, MC, Poole, EM, Ramus, SJ, Risch, HA, Rosen, B, Rossing, MA, Rothstein, JH, Rudolph, A, Runnebaum, IB, Rzepecka, IK, Salvesen, HB, Schildkraut, JM, Schwaab, I, Shu, X-O, Shvetsov, YB, Siddiqui, N, Sieh, W, Song, H, Southey, MC, Sucheston-Campbell, LE, Tangen, IL, Teo, S-H, Terry, KL, Thompson, PJ, Timorek, A, Tsai, Y-Y, Tworoger, SS, van Altena, AM, Van Nieuwenhuysen, E, Vergote, I, Vierkant, RA, Wang-Gohrke, S, Walsh, C, Wentzensen, N, Whittemore, AS, Wicklund, KG, Wilkens, LR, Woo, Y-L, Wu, X, Wu, A, Yang, H, Zheng, W, Ziogas, A, Sellers, TA, Monteiro, ANA, Freedman, ML, Gayther, SA, and Pharoah, PDP. "Network-Based Integration of GWAS and Gene Expression Identifies a HOX-Centric Network Associated with Serous Ovarian Cancer Risk." Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology 24.10 (October 2015): 1574-1584. (Review)
PMID
26209509
Source
epmc
Published In
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology
Volume
24
Issue
10
Publish Date
2015
Start Page
1574
End Page
1584
DOI
10.1158/1055-9965.EPI-14-1270

Shared genetics underlying epidemiological association between endometriosis and ovarian cancer.

Epidemiological studies have demonstrated associations between endometriosis and certain histotypes of ovarian cancer, including clear cell, low-grade serous and endometrioid carcinomas. We aimed to determine whether the observed associations might be due to shared genetic aetiology. To address this, we used two endometriosis datasets genotyped on common arrays with full-genome coverage (3194 cases and 7060 controls) and a large ovarian cancer dataset genotyped on the customized Illumina Infinium iSelect (iCOGS) arrays (10 065 cases and 21 663 controls). Previous work has suggested that a large number of genetic variants contribute to endometriosis and ovarian cancer (all histotypes combined) susceptibility. Here, using the iCOGS data, we confirmed polygenic architecture for most histotypes of ovarian cancer. This led us to evaluate if the polygenic effects are shared across diseases. We found evidence for shared genetic risks between endometriosis and all histotypes of ovarian cancer, except for the intestinal mucinous type. Clear cell carcinoma showed the strongest genetic correlation with endometriosis (0.51, 95% CI = 0.18-0.84). Endometrioid and low-grade serous carcinomas had similar correlation coefficients (0.48, 95% CI = 0.07-0.89 and 0.40, 95% CI = 0.05-0.75, respectively). High-grade serous carcinoma, which often arises from the fallopian tubes, showed a weaker genetic correlation with endometriosis (0.25, 95% CI = 0.11-0.39), despite the absence of a known epidemiological association. These results suggest that the epidemiological association between endometriosis and ovarian adenocarcinoma may be attributable to shared genetic susceptibility loci.

Authors
Lu, Y; Cuellar-Partida, G; Painter, JN; Nyholt, DR; Australian Ovarian Cancer Study, ; International Endogene Consortium (IEC), ; Morris, AP; Fasching, PA; Hein, A; Burghaus, S; Beckmann, MW; Lambrechts, D; Van Nieuwenhuysen, E; Vergote, I; Vanderstichele, A; Doherty, JA; Rossing, MA; Wicklund, KG; Chang-Claude, J; Eilber, U; Rudolph, A; Wang-Gohrke, S; Goodman, MT; Bogdanova, N; Dörk, T; Dürst, M; Hillemanns, P; Runnebaum, IB; Antonenkova, N; Butzow, R; Leminen, A; Nevanlinna, H; Pelttari, LM; Edwards, RP; Kelley, JL; Modugno, F; Moysich, KB; Ness, RB; Cannioto, R; Høgdall, E; Jensen, A; Giles, GG; Bruinsma, F; Kjaer, SK; Hildebrandt, MAT; Liang, D; Lu, KH; Wu, X; Bisogna, M; Dao, F; Levine, DA; Cramer, DW; Terry, KL; Tworoger, SS; Missmer, S; Bjorge, L; Salvesen, HB; Kopperud, RK; Bischof, K; Aben, KKH; Kiemeney, LA; Massuger, LFAG; Brooks-Wilson, A; Olson, SH; McGuire, V; Rothstein, JH; Sieh, W; Whittemore, AS; Cook, LS; Le, ND; Gilks, CB; Gronwald, J; Jakubowska, A; Lubiński, J; Gawełko, J; Song, H; Tyrer, JP; Wentzensen, N; Brinton, L; Trabert, B; Lissowska, J; Mclaughlin, JR; Narod, SA; Phelan, C; Anton-Culver, H; Ziogas, A; Eccles, D; Gayther, SA; Gentry-Maharaj, A; Menon, U; Ramus, SJ; Wu, AH; Dansonka-Mieszkowska, A; Kupryjanczyk, J; Timorek, A; Szafron, L; Cunningham, JM; Fridley, BL; Winham, SJ; Bandera, EV; Poole, EM; Morgan, TK; Risch, HA; Goode, EL; Schildkraut, JM; Webb, PM; Pearce, CL; Berchuck, A; Pharoah, PDP; Montgomery, GW; Zondervan, KT; Chenevix-Trench, G; MacGregor, S
MLA Citation
Lu, Y, Cuellar-Partida, G, Painter, JN, Nyholt, DR, Australian Ovarian Cancer Study, , International Endogene Consortium (IEC), , Morris, AP, Fasching, PA, Hein, A, Burghaus, S, Beckmann, MW, Lambrechts, D, Van Nieuwenhuysen, E, Vergote, I, Vanderstichele, A, Doherty, JA, Rossing, MA, Wicklund, KG, Chang-Claude, J, Eilber, U, Rudolph, A, Wang-Gohrke, S, Goodman, MT, Bogdanova, N, Dörk, T, Dürst, M, Hillemanns, P, Runnebaum, IB, Antonenkova, N, Butzow, R, Leminen, A, Nevanlinna, H, Pelttari, LM, Edwards, RP, Kelley, JL, Modugno, F, Moysich, KB, Ness, RB, Cannioto, R, Høgdall, E, Jensen, A, Giles, GG, Bruinsma, F, Kjaer, SK, Hildebrandt, MAT, Liang, D, Lu, KH, Wu, X, Bisogna, M, Dao, F, Levine, DA, Cramer, DW, Terry, KL, Tworoger, SS, Missmer, S, Bjorge, L, Salvesen, HB, Kopperud, RK, Bischof, K, Aben, KKH, Kiemeney, LA, Massuger, LFAG, Brooks-Wilson, A, Olson, SH, McGuire, V, Rothstein, JH, Sieh, W, Whittemore, AS, Cook, LS, Le, ND, Gilks, CB, Gronwald, J, Jakubowska, A, Lubiński, J, Gawełko, J, Song, H, Tyrer, JP, Wentzensen, N, Brinton, L, Trabert, B, Lissowska, J, Mclaughlin, JR, Narod, SA, Phelan, C, Anton-Culver, H, Ziogas, A, Eccles, D, Gayther, SA, Gentry-Maharaj, A, Menon, U, Ramus, SJ, Wu, AH, Dansonka-Mieszkowska, A, Kupryjanczyk, J, Timorek, A, Szafron, L, Cunningham, JM, Fridley, BL, Winham, SJ, Bandera, EV, Poole, EM, Morgan, TK, Risch, HA, Goode, EL, Schildkraut, JM, Webb, PM, Pearce, CL, Berchuck, A, Pharoah, PDP, Montgomery, GW, Zondervan, KT, Chenevix-Trench, G, and MacGregor, S. "Shared genetics underlying epidemiological association between endometriosis and ovarian cancer." Human Molecular Genetics 24.20 (October 2015): 5955-5964.
PMID
26231222
Source
epmc
Published In
Human Molecular Genetics
Volume
24
Issue
20
Publish Date
2015
Start Page
5955
End Page
5964
DOI
10.1093/hmg/ddv306

A functional variant in HOXA11-AS, a novel long non-coding RNA, inhibits the oncogenic phenotype of epithelial ovarian cancer.

The homeobox A (HOXA) region of protein-coding genes impacts female reproductive system embryogenesis and ovarian carcinogenesis. The 5-prime end of HOXA includes three long non-coding RNAs (lncRNAs) (HOXA10-AS, HOXA11-AS, and HOTTIP) that are underexplored in epithelial ovarian cancer (EOC). We evaluated whether common genetic variants in these lncRNAs are associated with EOC risk and/or have functional roles in EOC development. Using genome-wide association study data from 1,201 serous EOC cases and 2,009 controls, an exonic variant within HOXA11-AS, rs17427875 (A>T), was marginally associated with reduced serous EOC risk (OR = 0.88 (95% CI: 0.78-1.01, p = 0.06). Functional studies of ectopic expression of HOXA11-AS minor allele T in EOC cells showed decreased survival, proliferation, migration, and invasion compared to common allele A expression. Additionally, stable expression of HOXA11-AS minor allele T reduced primary tumor growth in mouse xenograft models to a greater extent than common allele A. Furthermore, HOXA11-AS expression levels were significantly lower in human EOC tumors than normal ovarian tissues (p < 0.05), suggesting that HOXA11-AS has a tumor suppressor function in EOC which may be enhanced by the T allele. These findings demonstrate for the first time a role for HOXA11-AS in EOC with effects that could be modified by germline variants.

Authors
Richards, EJ; Permuth-Wey, J; Li, Y; Chen, YA; Coppola, D; Reid, BM; Lin, H-Y; Teer, JK; Berchuck, A; Birrer, MJ; Lawrenson, K; Monteiro, ANA; Schildkraut, JM; Goode, EL; Gayther, SA; Sellers, TA; Cheng, JQ
MLA Citation
Richards, EJ, Permuth-Wey, J, Li, Y, Chen, YA, Coppola, D, Reid, BM, Lin, H-Y, Teer, JK, Berchuck, A, Birrer, MJ, Lawrenson, K, Monteiro, ANA, Schildkraut, JM, Goode, EL, Gayther, SA, Sellers, TA, and Cheng, JQ. "A functional variant in HOXA11-AS, a novel long non-coding RNA, inhibits the oncogenic phenotype of epithelial ovarian cancer." Oncotarget 6.33 (October 2015): 34745-34757.
PMID
26430965
Source
epmc
Published In
Oncotarget
Volume
6
Issue
33
Publish Date
2015
Start Page
34745
End Page
34757
DOI
10.18632/oncotarget.5784

Cis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer.

Genome-wide association studies have reported 11 regions conferring risk of high-grade serous epithelial ovarian cancer (HGSOC). Expression quantitative trait locus (eQTL) analyses can identify candidate susceptibility genes at risk loci. Here we evaluate cis-eQTL associations at 47 regions associated with HGSOC risk (P≤10(-5)). For three cis-eQTL associations (P<1.4 × 10(-3), FDR<0.05) at 1p36 (CDC42), 1p34 (CDCA8) and 2q31 (HOXD9), we evaluate the functional role of each candidate by perturbing expression of each gene in HGSOC precursor cells. Overexpression of HOXD9 increases anchorage-independent growth, shortens population-doubling time and reduces contact inhibition. Chromosome conformation capture identifies an interaction between rs2857532 and the HOXD9 promoter, suggesting this SNP is a leading causal variant. Transcriptomic profiling after HOXD9 overexpression reveals enrichment of HGSOC risk variants within HOXD9 target genes (P=6 × 10(-10) for risk variants (P<10(-4)) within 10 kb of a HOXD9 target gene in ovarian cells), suggesting a broader role for this network in genetic susceptibility to HGSOC.

Authors
Lawrenson, K; Li, Q; Kar, S; Seo, J-H; Tyrer, J; Spindler, TJ; Lee, J; Chen, Y; Karst, A; Drapkin, R; Aben, KKH; Anton-Culver, H; Antonenkova, N; Australian Ovarian Cancer Study Group, ; Baker, H; Bandera, EV; Bean, Y; Beckmann, MW; Berchuck, A; Bisogna, M; Bjorge, L; Bogdanova, N; Brinton, LA; Brooks-Wilson, A; Bruinsma, F; Butzow, R; Campbell, IG; Carty, K; Chang-Claude, J; Chenevix-Trench, G; Chen, A; Chen, Z; Cook, LS; Cramer, DW; Cunningham, JM; Cybulski, C; Dansonka-Mieszkowska, A; Dennis, J; Dicks, E; Doherty, JA; Dörk, T; du Bois, A; Dürst, M; Eccles, D; Easton, DT; Edwards, RP; Eilber, U; Ekici, AB; Fasching, PA; Fridley, BL; Gao, Y-T; Gentry-Maharaj, A; Giles, GG; Glasspool, R; Goode, EL; Goodman, MT; Grownwald, J; Harrington, P; Harter, P; Hasmad, HN; Hein, A; Heitz, F; Hildebrandt, MAT; Hillemanns, P; Hogdall, E; Hogdall, C; Hosono, S; Iversen, ES; Jakubowska, A; James, P; Jensen, A; Ji, B-T; Karlan, BY; Kruger Kjaer, S; Kelemen, LE; Kellar, M; Kelley, JL; Kiemeney, LA; Krakstad, C; Kupryjanczyk, J; Lambrechts, D; Lambrechts, S; Le, ND; Lee, AW; Lele, S; Leminen, A; Lester, J; Levine, DA; Liang, D; Lissowska, J; Lu, K; Lubinski, J; Lundvall, L; Massuger, LFAG; Matsuo, K; McGuire, V; McLaughlin, JR; Nevanlinna, H; McNeish, I; Menon, U; Modugno, F; Moysich, KB; Narod, SA; Nedergaard, L; Ness, RB; Azmi, MAN; Odunsi, K; Olson, SH; Orlow, I; Orsulic, S; Weber, RP; Pearce, CL; Pejovic, T; Pelttari, LM; Permuth-Wey, J; Phelan, CM; Pike, MC; Poole, EM; Ramus, SJ; Risch, HA; Rosen, B; Rossing, MA; Rothstein, JH; Rudolph, A; Runnebaum, IB; Rzepecka, IK; Salvesen, HB; Schildkraut, JM; Schwaab, I; Sellers, TA; Shu, X-O; Shvetsov, YB; Siddiqui, N; Sieh, W; Song, H; Southey, MC; Sucheston, L; Tangen, IL; Teo, S-H; Terry, KL; Thompson, PJ; Timorek, A; Tsai, Y-Y; Tworoger, SS; van Altena, AM; Van Nieuwenhuysen, E; Vergote, I; Vierkant, RA; Wang-Gohrke, S; Walsh, C; Wentzensen, N; Whittemore, AS; Wicklund, KG; Wilkens, LR; Woo, Y-L; Wu, X; Wu, AH; Yang, H; Zheng, W; Ziogas, A; Monteiro, A; Pharoah, PD; Gayther, SA; Freedman, ML
MLA Citation
Lawrenson, K, Li, Q, Kar, S, Seo, J-H, Tyrer, J, Spindler, TJ, Lee, J, Chen, Y, Karst, A, Drapkin, R, Aben, KKH, Anton-Culver, H, Antonenkova, N, Australian Ovarian Cancer Study Group, , Baker, H, Bandera, EV, Bean, Y, Beckmann, MW, Berchuck, A, Bisogna, M, Bjorge, L, Bogdanova, N, Brinton, LA, Brooks-Wilson, A, Bruinsma, F, Butzow, R, Campbell, IG, Carty, K, Chang-Claude, J, Chenevix-Trench, G, Chen, A, Chen, Z, Cook, LS, Cramer, DW, Cunningham, JM, Cybulski, C, Dansonka-Mieszkowska, A, Dennis, J, Dicks, E, Doherty, JA, Dörk, T, du Bois, A, Dürst, M, Eccles, D, Easton, DT, Edwards, RP, Eilber, U, Ekici, AB, Fasching, PA, Fridley, BL, Gao, Y-T, Gentry-Maharaj, A, Giles, GG, Glasspool, R, Goode, EL, Goodman, MT, Grownwald, J, Harrington, P, Harter, P, Hasmad, HN, Hein, A, Heitz, F, Hildebrandt, MAT, Hillemanns, P, Hogdall, E, Hogdall, C, Hosono, S, Iversen, ES, Jakubowska, A, James, P, Jensen, A, Ji, B-T, Karlan, BY, Kruger Kjaer, S, Kelemen, LE, Kellar, M, Kelley, JL, Kiemeney, LA, Krakstad, C, Kupryjanczyk, J, Lambrechts, D, Lambrechts, S, Le, ND, Lee, AW, Lele, S, Leminen, A, Lester, J, Levine, DA, Liang, D, Lissowska, J, Lu, K, Lubinski, J, Lundvall, L, Massuger, LFAG, Matsuo, K, McGuire, V, McLaughlin, JR, Nevanlinna, H, McNeish, I, Menon, U, Modugno, F, Moysich, KB, Narod, SA, Nedergaard, L, Ness, RB, Azmi, MAN, Odunsi, K, Olson, SH, Orlow, I, Orsulic, S, Weber, RP, Pearce, CL, Pejovic, T, Pelttari, LM, Permuth-Wey, J, Phelan, CM, Pike, MC, Poole, EM, Ramus, SJ, Risch, HA, Rosen, B, Rossing, MA, Rothstein, JH, Rudolph, A, Runnebaum, IB, Rzepecka, IK, Salvesen, HB, Schildkraut, JM, Schwaab, I, Sellers, TA, Shu, X-O, Shvetsov, YB, Siddiqui, N, Sieh, W, Song, H, Southey, MC, Sucheston, L, Tangen, IL, Teo, S-H, Terry, KL, Thompson, PJ, Timorek, A, Tsai, Y-Y, Tworoger, SS, van Altena, AM, Van Nieuwenhuysen, E, Vergote, I, Vierkant, RA, Wang-Gohrke, S, Walsh, C, Wentzensen, N, Whittemore, AS, Wicklund, KG, Wilkens, LR, Woo, Y-L, Wu, X, Wu, AH, Yang, H, Zheng, W, Ziogas, A, Monteiro, A, Pharoah, PD, Gayther, SA, and Freedman, ML. "Cis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer." Nature Communications 6 (September 22, 2015): 8234-null.
PMID
26391404
Source
epmc
Published In
Nature Communications
Volume
6
Publish Date
2015
Start Page
8234
DOI
10.1038/ncomms9234

Abstract POSTER-THER-1420: Ascites drives ovarian cancer stem-like cell growth: therapeutic opportunities

Authors
Mo, L; Kennedy, M; Berchuck, A; Cianciolo, G; Bachelder, RE; Pizzo, SV
MLA Citation
Mo, L, Kennedy, M, Berchuck, A, Cianciolo, G, Bachelder, RE, and Pizzo, SV. "Abstract POSTER-THER-1420: Ascites drives ovarian cancer stem-like cell growth: therapeutic opportunities." August 15, 2015.
Source
crossref
Published In
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
Volume
21
Issue
16 Supplement
Publish Date
2015
Start Page
POSTER-THER-1420
End Page
POSTER-THER-1420
DOI
10.1158/1557-3265.OVCASYMP14-POSTER-THER-1420

Abstract POSTER-BIOL-1319: Temporal shifts in the epigenetic regulation of tight junctions from primary to recurrent ovarian cancer

Authors
Huang, Z; Visco, Z; Sfakianos, G; Whitaker, R; Berchuck, A; Murphy, S
MLA Citation
Huang, Z, Visco, Z, Sfakianos, G, Whitaker, R, Berchuck, A, and Murphy, S. "Abstract POSTER-BIOL-1319: Temporal shifts in the epigenetic regulation of tight junctions from primary to recurrent ovarian cancer." August 15, 2015.
Source
crossref
Published In
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
Volume
21
Issue
16 Supplement
Publish Date
2015
Start Page
POSTER-BIOL-1319
End Page
POSTER-BIOL-1319
DOI
10.1158/1557-3265.OVCASYMP14-POSTER-BIOL-1319

Abstract 2236: Emergence of epigenetic regulation of tight junction genes in recurrent serous epithelial ovarian cancer

Authors
Huang, Z; Visco, Z; Sfakianos, G; Whitaker, R; Berchuck, A; Murphy, SK
MLA Citation
Huang, Z, Visco, Z, Sfakianos, G, Whitaker, R, Berchuck, A, and Murphy, SK. "Abstract 2236: Emergence of epigenetic regulation of tight junction genes in recurrent serous epithelial ovarian cancer." August 1, 2015.
Source
crossref
Published In
Cancer Research
Volume
75
Issue
15 Supplement
Publish Date
2015
Start Page
2236
End Page
2236
DOI
10.1158/1538-7445.AM2015-2236

Abstract 4635: Inherited variants affecting RNA editing may contribute to ovarian cancer susceptibility

Authors
Permuth-Wey, J; Reid, BM; Chen, YA; Lin, H-Y; Monteiro, A; Chen, Z; Berchuck, A; Chenevix-Trench, G; Doherty, J; Gayther, S; Goode, E; Iversen, E; Pearce, L; Pharoah, PDP; Phelan, C; Ramus, S; Rossing, MA; Schildkraut, J; Sellers, T
MLA Citation
Permuth-Wey, J, Reid, BM, Chen, YA, Lin, H-Y, Monteiro, A, Chen, Z, Berchuck, A, Chenevix-Trench, G, Doherty, J, Gayther, S, Goode, E, Iversen, E, Pearce, L, Pharoah, PDP, Phelan, C, Ramus, S, Rossing, MA, Schildkraut, J, and Sellers, T. "Abstract 4635: Inherited variants affecting RNA editing may contribute to ovarian cancer susceptibility." August 1, 2015.
Source
crossref
Published In
Cancer Research
Volume
75
Issue
15 Supplement
Publish Date
2015
Start Page
4635
End Page
4635
DOI
10.1158/1538-7445.AM2015-4635

Abstract 4633: Evidence that long non-coding RNA variants associate with epithelial ovarian cancer risk

Authors
Sellers, TA; Reid, BM; Chen, YA; Lin, H-Y; Richards, E; Teer, J; Monteiro, A; Chen, Z; Berchuck, A; Chenevix-Trench, G; Doherty, J; Goode, E; Iverson, E; Pearce, L; Pharoah, P; Phelan, C; Ramus, S; Rossing, MA; Schildkraut, J; Cheng, J; Gayther, S; Permuth-Wey, J
MLA Citation
Sellers, TA, Reid, BM, Chen, YA, Lin, H-Y, Richards, E, Teer, J, Monteiro, A, Chen, Z, Berchuck, A, Chenevix-Trench, G, Doherty, J, Goode, E, Iverson, E, Pearce, L, Pharoah, P, Phelan, C, Ramus, S, Rossing, MA, Schildkraut, J, Cheng, J, Gayther, S, and Permuth-Wey, J. "Abstract 4633: Evidence that long non-coding RNA variants associate with epithelial ovarian cancer risk." August 1, 2015.
Source
crossref
Published In
Cancer Research
Volume
75
Issue
15 Supplement
Publish Date
2015
Start Page
4633
End Page
4633
DOI
10.1158/1538-7445.AM2015-4633

Abstract 4634: Variants within super-enhancer regulatory elements associate with epithelial ovarian cancer risk

Authors
Reid, BM; Permuth-Wey, J; Chen, YA; Lin, H-Y; Monteiro, A; Chen, Z; Berchuck, A; Chenevix-Trench, G; Doherty, J; Gayther, S; Goode, EL; Iversen, E; Pearce, L; Pharoah, P; Phelan, C; Ramus, S; Rossing, MA; Schildkraut, J; Sellers, T
MLA Citation
Reid, BM, Permuth-Wey, J, Chen, YA, Lin, H-Y, Monteiro, A, Chen, Z, Berchuck, A, Chenevix-Trench, G, Doherty, J, Gayther, S, Goode, EL, Iversen, E, Pearce, L, Pharoah, P, Phelan, C, Ramus, S, Rossing, MA, Schildkraut, J, and Sellers, T. "Abstract 4634: Variants within super-enhancer regulatory elements associate with epithelial ovarian cancer risk." August 1, 2015.
Source
crossref
Published In
Cancer Research
Volume
75
Issue
15 Supplement
Publish Date
2015
Start Page
4634
End Page
4634
DOI
10.1158/1538-7445.AM2015-4634

Abstract 4636: Investigation of exome variants associated with overall survival in ovarian cancer

Authors
Winham, SJ; Fridley, BL; Larson, MC; Fogarty, Z; Berchuck, A; Chen, YA; Lin, H-Y; Chenevix-Trench, G; Permuth-Wey, J; Sellers, TA; Pirie, A; Goode, EL
MLA Citation
Winham, SJ, Fridley, BL, Larson, MC, Fogarty, Z, Berchuck, A, Chen, YA, Lin, H-Y, Chenevix-Trench, G, Permuth-Wey, J, Sellers, TA, Pirie, A, and Goode, EL. "Abstract 4636: Investigation of exome variants associated with overall survival in ovarian cancer." August 1, 2015.
Source
crossref
Published In
Cancer Research
Volume
75
Issue
15 Supplement
Publish Date
2015
Start Page
4636
End Page
4636
DOI
10.1158/1538-7445.AM2015-4636

Genome-wide significant risk associations for mucinous ovarian carcinoma.

Genome-wide association studies have identified several risk associations for ovarian carcinomas but not for mucinous ovarian carcinomas (MOCs). Our analysis of 1,644 MOC cases and 21,693 controls with imputation identified 3 new risk associations: rs752590 at 2q13 (P = 3.3 × 10(-8)), rs711830 at 2q31.1 (P = 7.5 × 10(-12)) and rs688187 at 19q13.2 (P = 6.8 × 10(-13)). We identified significant expression quantitative trait locus (eQTL) associations for HOXD9 at 2q31.1 in ovarian (P = 4.95 × 10(-4), false discovery rate (FDR) = 0.003) and colorectal (P = 0.01, FDR = 0.09) tumors and for PAX8 at 2q13 in colorectal tumors (P = 0.03, FDR = 0.09). Chromosome conformation capture analysis identified interactions between the HOXD9 promoter and risk-associated SNPs at 2q31.1. Overexpressing HOXD9 in MOC cells augmented the neoplastic phenotype. These findings provide the first evidence for MOC susceptibility variants and insights into the underlying biology of the disease.

Authors
Kelemen, LE; Lawrenson, K; Tyrer, J; Li, Q; Lee, JM; Seo, J-H; Phelan, CM; Beesley, J; Chen, X; Spindler, TJ; Aben, KKH; Anton-Culver, H; Antonenkova, N; Australian Cancer Study, ; Australian Ovarian Cancer Study Group, ; Ovarian Cancer Association Consortium,
MLA Citation
Kelemen, LE, Lawrenson, K, Tyrer, J, Li, Q, Lee, JM, Seo, J-H, Phelan, CM, Beesley, J, Chen, X, Spindler, TJ, Aben, KKH, Anton-Culver, H, Antonenkova, N, Australian Cancer Study, , Australian Ovarian Cancer Study Group, , and Ovarian Cancer Association Consortium, . "Genome-wide significant risk associations for mucinous ovarian carcinoma." Nature Genetics 47.8 (August 2015): 888-897.
PMID
26075790
Source
epmc
Published In
Nature Genetics
Volume
47
Issue
8
Publish Date
2015
Start Page
888
End Page
897
DOI
10.1038/ng.3336

Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci.

Understanding the regulatory landscape of the human genome is a central question in complex trait genetics. Most single-nucleotide polymorphisms (SNPs) associated with cancer risk lie in non-protein-coding regions, implicating regulatory DNA elements as functional targets of susceptibility variants. Here, we describe genome-wide annotation of regions of open chromatin and histone modification in fallopian tube and ovarian surface epithelial cells (FTSECs, OSECs), the debated cellular origins of high-grade serous ovarian cancers (HGSOCs) and in endometriosis epithelial cells (EECs), the likely precursor of clear cell ovarian carcinomas (CCOCs). The regulatory architecture of these cell types was compared with normal human mammary epithelial cells and LNCaP prostate cancer cells. We observed similar positional patterns of global enhancer signatures across the three different ovarian cancer precursor cell types, and evidence of tissue-specific regulatory signatures compared to non-gynecological cell types. We found significant enrichment for risk-associated SNPs intersecting regulatory biofeatures at 17 known HGSOC susceptibility loci in FTSECs (P = 3.8 × 10(-30)), OSECs (P = 2.4 × 10(-23)) and HMECs (P = 6.7 × 10(-15)) but not for EECs (P = 0.45) or LNCaP cells (P = 0.88). Hierarchical clustering of risk SNPs conditioned on the six different cell types indicates FTSECs and OSECs are highly related (96% of samples using multi-scale bootstrapping) suggesting both cell types may be precursors of HGSOC. These data represent the first description of regulatory catalogues of normal precursor cells for different ovarian cancer subtypes, and provide unique insights into the tissue specific regulatory variation with respect to the likely functional targets of germline genetic susceptibility variants for ovarian cancer.

Authors
Coetzee, SG; Shen, HC; Hazelett, DJ; Lawrenson, K; Kuchenbaecker, K; Tyrer, J; Rhie, SK; Levanon, K; Karst, A; Drapkin, R; Ramus, SJ; Ovarian Cancer Association Consortium, The Consortium of Investigators of Modifiers of BRCA1/2, ; Couch, FJ; Offit, K; Chenevix-Trench, G; Monteiro, ANA; Antoniou, A; Freedman, M; Coetzee, GA; Pharoah, PDP; Noushmehr, H; Gayther, SA; Ovarian Cancer Association Consortium The Consortium of Investigators of Modifiers of BRCA1/2,
MLA Citation
Coetzee, SG, Shen, HC, Hazelett, DJ, Lawrenson, K, Kuchenbaecker, K, Tyrer, J, Rhie, SK, Levanon, K, Karst, A, Drapkin, R, Ramus, SJ, Ovarian Cancer Association Consortium, The Consortium of Investigators of Modifiers of BRCA1/2, , Couch, FJ, Offit, K, Chenevix-Trench, G, Monteiro, ANA, Antoniou, A, Freedman, M, Coetzee, GA, Pharoah, PDP, Noushmehr, H, Gayther, SA, and Ovarian Cancer Association Consortium The Consortium of Investigators of Modifiers of BRCA1/2, . "Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci." Human molecular genetics 24.13 (July 2015): 3595-3607.
PMID
25804953
Source
epmc
Published In
Human Molecular Genetics
Volume
24
Issue
13
Publish Date
2015
Start Page
3595
End Page
3607
DOI
10.1093/hmg/ddv101

LIFETIME RISK OF OVARIAN CANCER BASED ON ENDOMETRIOSIS AND OTHER RISK FACTORS: IGCS-0014 06. Ovarian Cancer.

Authors
Ness, R; Pearce, C; Stram, D; Berchuck, A; Pike, M; Pharoah, P
MLA Citation
Ness, R, Pearce, C, Stram, D, Berchuck, A, Pike, M, and Pharoah, P. "LIFETIME RISK OF OVARIAN CANCER BASED ON ENDOMETRIOSIS AND OTHER RISK FACTORS: IGCS-0014 06. Ovarian Cancer." International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 25 Suppl 1 (May 2015): 50-.
PMID
25955930
Source
epmc
Published In
International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society
Volume
25 Suppl 1
Publish Date
2015
Start Page
50
DOI
10.1097/00009577-201505001-00039

LIFETIME RISK OF OVARIAN CANCER BASED ON ENDOMETRIOSIS AND OTHER RISK FACTORS

Authors
Ness, R; Pearce, C; Stram, D; Berchuck, A; Pike, M; Pharoah, P
MLA Citation
Ness, R, Pearce, C, Stram, D, Berchuck, A, Pike, M, and Pharoah, P. "LIFETIME RISK OF OVARIAN CANCER BASED ON ENDOMETRIOSIS AND OTHER RISK FACTORS." INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER 25 (May 2015): 50-51.
Source
wos-lite
Published In
International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society
Volume
25
Publish Date
2015
Start Page
50
End Page
51
DOI
10.1097/00009577-201505001-00039

Population distribution of lifetime risk of ovarian cancer in the United States.

In U.S. women, lifetime risk of ovarian cancer is 1.37%, but some women are at a substantially lower or higher risk than this average.We have characterized the distribution of lifetime risk in the general population. Published data on the relative risks and their variances for five well-accepted risk and protective factors for ovarian cancer, oral contraceptive use, parity, tubal ligation, endometriosis, and first-degree family history of ovarian cancer in conjunction with a genetic risk score using genome-wide significant common, low penetrance variants were used. The joint distribution of these factors (i.e., risk/protective factor profiles) was derived using control data from four U.S. population-based studies, providing a broad representation of women in the United States.A total of 214 combinations of risk/protective factors were observed, and the lifetime risk estimates ranged from 0.35% [95% confidence interval (CI), 0.29-0.42] to 8.78% (95% CI, 7.10-10.9). Among women with lifetime risk ranging from 4% to 9%, 73% had no family history of ovarian cancer; most of these women had a self-reported history of endometriosis.Profiles including the known modifiable protective factors of oral contraceptive use and tubal ligation were associated with a lower lifetime risk of ovarian cancer. Oral contraceptive use and tubal ligation were essentially absent among the women at 4% to 9% lifetime risk.This work demonstrates that there are women in the general population who have a much higher than average lifetime risk of ovarian cancer. Preventive strategies are available. Should effective screening become available, higher than average risk women can be identified.

Authors
Pearce, CL; Stram, DO; Ness, RB; Stram, DA; Roman, LD; Templeman, C; Lee, AW; Menon, U; Fasching, PA; McAlpine, JN; Doherty, JA; Modugno, F; Schildkraut, JM; Rossing, MA; Huntsman, DG; Wu, AH; Berchuck, A; Pike, MC; Pharoah, PDP
MLA Citation
Pearce, CL, Stram, DO, Ness, RB, Stram, DA, Roman, LD, Templeman, C, Lee, AW, Menon, U, Fasching, PA, McAlpine, JN, Doherty, JA, Modugno, F, Schildkraut, JM, Rossing, MA, Huntsman, DG, Wu, AH, Berchuck, A, Pike, MC, and Pharoah, PDP. "Population distribution of lifetime risk of ovarian cancer in the United States." Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology 24.4 (April 2015): 671-676.
PMID
25623732
Source
epmc
Published In
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology
Volume
24
Issue
4
Publish Date
2015
Start Page
671
End Page
676
DOI
10.1158/1055-9965.EPI-14-1128

Prophylactic oophorectomy for hereditary small cell carcinoma of the ovary, hypercalcemic type.

•Prophylactic oophorectomy can prevent small cell carcinoma of the ovary, hypercalcemic type in carriers of germline SMARCA4 mutations.•Unaffected SMARCA4 mutation carriers who desire children may be best served by oocyte cryopreservation prior to prophylactic oophorectomy.

Authors
Berchuck, A; Witkowski, L; Hasselblatt, M; Foulkes, WD
MLA Citation
Berchuck, A, Witkowski, L, Hasselblatt, M, and Foulkes, WD. "Prophylactic oophorectomy for hereditary small cell carcinoma of the ovary, hypercalcemic type." Gynecologic oncology reports 12 (April 2015): 20-22.
PMID
26076152
Source
epmc
Published In
Gynecologic Oncology Reports
Volume
12
Publish Date
2015
Start Page
20
End Page
22
DOI
10.1016/j.gore.2015.02.002

Evaluating the ovarian cancer gonadotropin hypothesis: a candidate gene study.

OBJECTIVE:Ovarian cancer is a hormone-related disease with a strong genetic basis. However, none of its high-penetrance susceptibility genes and GWAS-identified variants to date are known to be involved in hormonal pathways. Given the hypothesized etiologic role of gonadotropins, an assessment of how variability in genes involved in the gonadotropin signaling pathway impacts disease risk is warranted. METHODS:Genetic data from 41 ovarian cancer study sites were pooled and unconditional logistic regression was used to evaluate whether any of the 2185 SNPs from 11 gonadotropin signaling pathway genes was associated with ovarian cancer risk. A burden test using the admixture likelihood (AML) method was also used to evaluate gene-level associations. RESULTS:We did not find any genome-wide significant associations between individual SNPs and ovarian cancer risk. However, there was some suggestion of gene-level associations for four gonadotropin signaling pathway genes: INHBB (p=0.045, mucinous), LHCGR (p=0.046, high-grade serous), GNRH (p=0.041, high-grade serous), and FSHB (p=0.036, overall invasive). There was also suggestive evidence for INHA (p=0.060, overall invasive). CONCLUSIONS:Ovarian cancer studies have limited sample numbers, thus fewer genome-wide susceptibility alleles, with only modest associations, have been identified relative to breast and prostate cancers. We have evaluated the majority of ovarian cancer studies with biological samples, to our knowledge, leaving no opportunity for replication. Using both our understanding of biology and powerful gene-level tests, we have identified four putative ovarian cancer loci near INHBB, LHCGR, GNRH, and FSHB that warrant a second look if larger sample sizes and denser genotype chips become available.

Authors
Lee, AW; Tyrer, JP; Doherty, JA; Stram, DA; Kupryjanczyk, J; Dansonka-Mieszkowska, A; Plisiecka-Halasa, J; Spiewankiewicz, B; Myers, EJ; Australian Cancer Study (Ovarian Cancer), ; Australian Ovarian Cancer Study Group, ; Chenevix-Trench, G; Fasching, PA; Beckmann, MW; Ekici, AB; Hein, A; Vergote, I; Van Nieuwenhuysen, E; Lambrechts, D; Wicklund, KG; Eilber, U; Wang-Gohrke, S; Chang-Claude, J; Rudolph, A; Sucheston-Campbell, L; Odunsi, K; Moysich, KB; Shvetsov, YB; Thompson, PJ; Goodman, MT; Wilkens, LR; Dörk, T; Hillemanns, P; Dürst, M; Runnebaum, IB; Bogdanova, N; Pelttari, LM; Nevanlinna, H; Leminen, A; Edwards, RP; Kelley, JL; Harter, P; Schwaab, I; Heitz, F; du Bois, A; Orsulic, S; Lester, J; Walsh, C; Karlan, BY; Hogdall, E; Kjaer, SK; Jensen, A; Vierkant, RA; Cunningham, JM; Goode, EL; Fridley, BL; Southey, MC; Giles, GG; Bruinsma, F; Wu, X; Hildebrandt, MAT; Lu, K; Liang, D; Bisogna, M; Levine, DA; Weber, RP; Schildkraut, JM; Iversen, ES; Berchuck, A; Terry, KL; Cramer, DW; Tworoger, SS; Poole, EM; Olson, SH; Orlow, I; Bandera, EV; Bjorge, L; Tangen, IL; Salvesen, HB; Krakstad, C; Massuger, LFAG; Kiemeney, LA; Aben, KKH; van Altena, AM; Bean, Y; Pejovic, T; Kellar, M; Le, ND; Cook, LS; Kelemen, LE; Brooks-Wilson, A; Lubinski, J; Gronwald, J; Cybulski, C; Jakubowska, A; Wentzensen, N; Brinton, LA; Lissowska, J; Yang, H; Nedergaard, L; Lundvall, L; Hogdall, C; Song, H; Campbell, IG; Eccles, D; Glasspool, R; Siddiqui, N; Carty, K; Paul, J; McNeish, IA; Sieh, W; McGuire, V; Rothstein, JH; Whittemore, AS; McLaughlin, JR; Risch, HA; Phelan, CM; Anton-Culver, H; Ziogas, A; Menon, U; Ramus, SJ; Gentry-Maharaj, A; Harrington, P; Pike, MC; Modugno, F; Rossing, MA; Ness, RB; Pharoah, PDP; Stram, DO; Wu, AH; Pearce, CL
MLA Citation
Lee, AW, Tyrer, JP, Doherty, JA, Stram, DA, Kupryjanczyk, J, Dansonka-Mieszkowska, A, Plisiecka-Halasa, J, Spiewankiewicz, B, Myers, EJ, Australian Cancer Study (Ovarian Cancer), , Australian Ovarian Cancer Study Group, , Chenevix-Trench, G, Fasching, PA, Beckmann, MW, Ekici, AB, Hein, A, Vergote, I, Van Nieuwenhuysen, E, Lambrechts, D, Wicklund, KG, Eilber, U, Wang-Gohrke, S, Chang-Claude, J, Rudolph, A, Sucheston-Campbell, L, Odunsi, K, Moysich, KB, Shvetsov, YB, Thompson, PJ, Goodman, MT, Wilkens, LR, Dörk, T, Hillemanns, P, Dürst, M, Runnebaum, IB, Bogdanova, N, Pelttari, LM, Nevanlinna, H, Leminen, A, Edwards, RP, Kelley, JL, Harter, P, Schwaab, I, Heitz, F, du Bois, A, Orsulic, S, Lester, J, Walsh, C, Karlan, BY, Hogdall, E, Kjaer, SK, Jensen, A, Vierkant, RA, Cunningham, JM, Goode, EL, Fridley, BL, Southey, MC, Giles, GG, Bruinsma, F, Wu, X, Hildebrandt, MAT, Lu, K, Liang, D, Bisogna, M, Levine, DA, Weber, RP, Schildkraut, JM, Iversen, ES, Berchuck, A, Terry, KL, Cramer, DW, Tworoger, SS, Poole, EM, Olson, SH, Orlow, I, Bandera, EV, Bjorge, L, Tangen, IL, Salvesen, HB, Krakstad, C, Massuger, LFAG, Kiemeney, LA, Aben, KKH, van Altena, AM, Bean, Y, Pejovic, T, Kellar, M, Le, ND, Cook, LS, Kelemen, LE, Brooks-Wilson, A, Lubinski, J, Gronwald, J, Cybulski, C, Jakubowska, A, Wentzensen, N, Brinton, LA, Lissowska, J, Yang, H, Nedergaard, L, Lundvall, L, Hogdall, C, Song, H, Campbell, IG, Eccles, D, Glasspool, R, Siddiqui, N, Carty, K, Paul, J, McNeish, IA, Sieh, W, McGuire, V, Rothstein, JH, Whittemore, AS, McLaughlin, JR, Risch, HA, Phelan, CM, Anton-Culver, H, Ziogas, A, Menon, U, Ramus, SJ, Gentry-Maharaj, A, Harrington, P, Pike, MC, Modugno, F, Rossing, MA, Ness, RB, Pharoah, PDP, Stram, DO, Wu, AH, and Pearce, CL. "Evaluating the ovarian cancer gonadotropin hypothesis: a candidate gene study." Gynecologic Oncology 136.3 (March 2015): 542-548.
PMID
25528498
Source
epmc
Published In
Gynecologic Oncology
Volume
136
Issue
3
Publish Date
2015
Start Page
542
End Page
548
DOI
10.1016/j.ygyno.2014.12.017

Syngeneic Murine Ovarian Cancer Model Reveals That Ascites Enriches for Ovarian Cancer Stem-Like Cells Expressing Membrane GRP78.

Patients with ovarian cancer are generally diagnosed at FIGO (International Federation of Gynecology and Obstetrics) stage III/IV, when ascites is common. The volume of ascites correlates positively with the extent of metastasis and negatively with prognosis. Membrane GRP78, a stress-inducible endoplasmic reticulum chaperone that is also expressed on the plasma membrane ((mem)GRP78) of aggressive cancer cells, plays a crucial role in the embryonic stem cell maintenance. We studied the effects of ascites on ovarian cancer stem-like cells using a syngeneic mouse model. Our study demonstrates that ascites-derived tumor cells from mice injected intraperitoneally with murine ovarian cancer cells (ID8) express increased (mem)GRP78 levels compared with ID8 cells from normal culture. We hypothesized that these ascites-associated (mem)GRP78(+) cells are cancer stem-like cells (CSC). Supporting this hypothesis, we show that (mem)GRP78(+) cells isolated from murine ascites exhibit increased sphere forming and tumor initiating abilities compared with (mem)GRP78(-) cells. When the tumor microenvironment is recapitulated by adding ascites fluid to cell culture, ID8 cells express more (mem)GRP78 and increased self-renewing ability compared with those cultured in medium alone. Moreover, compared with their counterparts cultured in normal medium, ID8 cells cultured in ascites, or isolated from ascites, show increased stem cell marker expression. Antibodies directed against the carboxy-terminal domain of GRP78: (i) reduce self-renewing ability of murine and human ovarian cancer cells preincubated with ascites and (ii) suppress a GSK3α-AKT/SNAI1 signaling axis in these cells. Based on these data, we suggest that (mem)GRP78 is a logical therapeutic target for late-stage ovarian cancer.

Authors
Mo, L; Bachelder, RE; Kennedy, M; Chen, P-H; Chi, J-T; Berchuck, A; Cianciolo, G; Pizzo, SV
MLA Citation
Mo, L, Bachelder, RE, Kennedy, M, Chen, P-H, Chi, J-T, Berchuck, A, Cianciolo, G, and Pizzo, SV. "Syngeneic Murine Ovarian Cancer Model Reveals That Ascites Enriches for Ovarian Cancer Stem-Like Cells Expressing Membrane GRP78." Molecular Cancer Therapeutics 14.3 (March 2015): 747-756.
PMID
25589495
Source
epmc
Published In
Molecular Cancer Therapeutics
Volume
14
Issue
3
Publish Date
2015
Start Page
747
End Page
756
DOI
10.1158/1535-7163.MCT-14-0579

MicroRNAs in endometrial cancers from black and white patients

Copyright © 2015 Elsevier Inc. All rights reserved. OBJECTIVE: Previous studies have identified differences in gene mutations among endometrial cancers from whites and blacks suggesting that differences in tumor biology may explain racial disparities in patient outcome. Micro RNAs (miRNAs) have emerged as regulators of transcript expression and their aberrant expression has been discovered in many diseases, including endometrial cancer. We performed quantitative polymerase chain reaction-based analysis in a set of endometrial cancers to identify whether there are racial differences in miRNA expression. STUDY DESIGN: Tumor cells from 50 stage-I endometrioid endometrial cancer specimens from 41 white and 9 black patients were prepared by laser microdissection and miRNA extracts were analyzed using TaqMan (Life Technologies, Carlsbad, CA) low-density arrays. Statistically significant, differentially expressed miRNAs between blacks and whites were identified using multidimensional scaling, Wilcoxon testing, and analysis of variance. RESULTS: There were no global differences in miRNA expression between endometrial cancers from 41 white and 9 black patients. To minimize potential bias introduced by unbalanced sample size, we performed a subset analysis with stage- and histology-matched specimens from 9 whites and 9 blacks that identified 18 differentially abundant miRNAs ( > 2-fold at P < .005). Quantitative polymerase chain reaction validated miRNA-337-3p in an independent set of endometrial cancer specimens from 23 white and 24 black women. There were no racial differences in hsa-miR-337-3p expression in normal endometrium. CONCLUSION: These data indicate that hsa-mir-337-3p is more frequently down-regulated in endometrial cancers from whites compared to blacks. Future studies are focused on determining the phenotypic impact of miR-337-3p and whether its differential expression is associated with clinical outcome.

Authors
Maxwell, GL; Shoji, Y; Darcy, K; Litzi, T; Berchuck, A; Hamilton, CA; Conrads, TP; Risinger, JI
MLA Citation
Maxwell, GL, Shoji, Y, Darcy, K, Litzi, T, Berchuck, A, Hamilton, CA, Conrads, TP, and Risinger, JI. "MicroRNAs in endometrial cancers from black and white patients." American journal of obstetrics and gynecology 212.2 (February 1, 2015).
Source
scopus
Published In
American Journal of Obstetrics and Gynecology
Volume
212
Issue
2
Publish Date
2015
DOI
10.1016/j.ajog.2014.08.028

Vaginal cuff thermal injury by mode of colpotomy at total laparoscopic hysterectomy: a randomized clinical trial.

STUDY OBJECTIVE: To evaluate if the use of Valleylab mode ("V mode") (Covidien, Mansfield, MA) electrothermal energy for colpotomy during total laparoscopic hysterectomy (LH) results in a smaller margin of thermal injury to the upper vagina compared with traditional cut/coagulate (cut/coag) electrothermal energy. DESIGN: Prospective randomized clinical trial (Canadian Task Force classification I). SETTING: University medical center. PATIENTS: A total of 101 subjects who underwent LH between June 2010 and August 2012. INTERVENTIONS: Subjects were randomized to colpotomy by V mode electrothermal energy or cut/coag electrothermal energy. MEASUREMENTS AND MAIN RESULTS: The primary end point was the median depth of thermal injury measured in millimeters. The secondary end points included the proportion of subjects who developed granulation tissue, induration, infection, or dehiscence at the vaginal cuff at 4 weeks, 3 months, or 6 months postoperatively. There was no significant difference in the median depth of thermal injury in the cut/coag and V mode arms (anterior margin: 0.68 mm vs 0.63 mm [p = .94], posterior margin: 0.66 mm vs 0.70 mm [p = .87], respectively). Twenty-seven percent of subjects in each arm developed at least 1 of the clinical end points at 4 weeks, 3 months, or 6 months postoperatively (granulation tissue: 6%-18% vs 8%-21%, induration: 0%-2% vs 4%-5%, infection: 0%-4% vs 0%-10%, dehiscence: 2% vs 0% in the cut/coag and V mode arms, respectively), with no difference between arms (p = 1.0). CONCLUSION: The V mode does not reduce the depth of thermal injury compared with cut/coag electrothermal energy when used for colpotomy incision during total laparoscopic hysterectomy (Clinical Trials.gov ID: NCT02080546).

Authors
Teoh, D; Lowery, WJ; Jiang, X; Ehrisman, J; Halvorson, P; Broadwater, G; Bentley, R; Secord, AA; Sobolewski, C; Berchuck, A; Havrilesky, LJ; Valea, FA; Lee, PS
MLA Citation
Teoh, D, Lowery, WJ, Jiang, X, Ehrisman, J, Halvorson, P, Broadwater, G, Bentley, R, Secord, AA, Sobolewski, C, Berchuck, A, Havrilesky, LJ, Valea, FA, and Lee, PS. "Vaginal cuff thermal injury by mode of colpotomy at total laparoscopic hysterectomy: a randomized clinical trial." February 2015.
PMID
25305572
Source
epmc
Published In
Journal of Minimally Invasive Gynecology
Volume
22
Issue
2
Publish Date
2015
Start Page
227
End Page
233
DOI
10.1016/j.jmig.2014.10.002

MicroRNAs in endometrial cancers from black and white patients.

OBJECTIVE: Previous studies have identified differences in gene mutations among endometrial cancers from whites and blacks suggesting that differences in tumor biology may explain racial disparities in patient outcome. Micro RNAs (miRNAs) have emerged as regulators of transcript expression and their aberrant expression has been discovered in many diseases, including endometrial cancer. We performed quantitative polymerase chain reaction-based analysis in a set of endometrial cancers to identify whether there are racial differences in miRNA expression. STUDY DESIGN: Tumor cells from 50 stage-I endometrioid endometrial cancer specimens from 41 white and 9 black patients were prepared by laser microdissection and miRNA extracts were analyzed using TaqMan (Life Technologies, Carlsbad, CA) low-density arrays. Statistically significant, differentially expressed miRNAs between blacks and whites were identified using multidimensional scaling, Wilcoxon testing, and analysis of variance. RESULTS: There were no global differences in miRNA expression between endometrial cancers from 41 white and 9 black patients. To minimize potential bias introduced by unbalanced sample size, we performed a subset analysis with stage- and histology-matched specimens from 9 whites and 9 blacks that identified 18 differentially abundant miRNAs (>2-fold at P < .005). Quantitative polymerase chain reaction validated miRNA-337-3p in an independent set of endometrial cancer specimens from 23 white and 24 black women. There were no racial differences in hsa-miR-337-3p expression in normal endometrium. CONCLUSION: These data indicate that hsa-mir-337-3p is more frequently down-regulated in endometrial cancers from whites compared to blacks. Future studies are focused on determining the phenotypic impact of miR-337-3p and whether its differential expression is associated with clinical outcome.

Authors
Maxwell, GL; Shoji, Y; Darcy, K; Litzi, T; Berchuck, A; Hamilton, CA; Conrads, TP; Risinger, JI
MLA Citation
Maxwell, GL, Shoji, Y, Darcy, K, Litzi, T, Berchuck, A, Hamilton, CA, Conrads, TP, and Risinger, JI. "MicroRNAs in endometrial cancers from black and white patients." American Journal of Obstetrics and Gynecology 212.2 (February 2015): 191.e1-191.10.
PMID
25174797
Source
epmc
Published In
American Journal of Obstetrics and Gynecology
Volume
212
Issue
2
Publish Date
2015
Start Page
191.e1
End Page
191.10
DOI
10.1016/j.ajog.2014.08.028

Identification of six new susceptibility loci for invasive epithelial ovarian cancer.

Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer (EOC) susceptibility alleles. The pattern of association at these loci is consistent in BRCA1 and BRCA2 mutation carriers who are at high risk of EOC. After imputation to 1000 Genomes Project data, we assessed associations of 11 million genetic variants with EOC risk from 15,437 cases unselected for family history and 30,845 controls and from 15,252 BRCA1 mutation carriers and 8,211 BRCA2 mutation carriers (3,096 with ovarian cancer), and we combined the results in a meta-analysis. This new study design yielded increased statistical power, leading to the discovery of six new EOC susceptibility loci. Variants at 1p36 (nearest gene, WNT4), 4q26 (SYNPO2), 9q34.2 (ABO) and 17q11.2 (ATAD5) were associated with EOC risk, and at 1p34.3 (RSPO1) and 6p22.1 (GPX6) variants were specifically associated with the serous EOC subtype, all with P < 5 × 10(-8). Incorporating these variants into risk assessment tools will improve clinical risk predictions for BRCA1 and BRCA2 mutation carriers.

Authors
Kuchenbaecker, KB; Ramus, SJ; Tyrer, J; Lee, A; Shen, HC; Beesley, J; Lawrenson, K; McGuffog, L; Healey, S; Lee, JM; Spindler, TJ; Lin, YG; Pejovic, T; Bean, Y; Li, Q; Coetzee, S; Hazelett, D; Miron, A; Southey, M; Terry, MB; Goldgar, DE; Buys, SS; Janavicius, R; Dorfling, CM; van Rensburg, EJ; Neuhausen, SL; Ding, YC; Hansen, TVO; Jønson, L; Gerdes, A-M; Ejlertsen, B; Barrowdale, D; Dennis, J; Benitez, J; Osorio, A; Garcia, MJ; Komenaka, I; Weitzel, JN; Ganschow, P; Peterlongo, P; Bernard, L; Viel, A; Bonanni, B; Peissel, B; Manoukian, S; Radice, P; Papi, L; Ottini, L; Fostira, F; Konstantopoulou, I; Garber, J; Frost, D; Perkins, J; Platte, R; Ellis, S; EMBRACE, ; Godwin, AK; Schmutzler, RK; Meindl, A; Engel, C; Sutter, C; Sinilnikova, OM; GEMO Study Collaborators, ; Damiola, F; Mazoyer, S; Stoppa-Lyonnet, D; Claes, K; De Leeneer, K; Kirk, J; Rodriguez, GC; Piedmonte, M; O'Malley, DM; de la Hoya, M; Caldes, T; Aittomäki, K; Nevanlinna, H; Collée, JM; Rookus, MA; Oosterwijk, JC; Breast Cancer Family Registry, ; Tihomirova, L; Tung, N; Hamann, U; Isaccs, C; Tischkowitz, M; Imyanitov, EN; Caligo, MA; Campbell, IG; Hogervorst, FBL; HEBON, ; Olah, E; Diez, O; Blanco, I; Brunet, J; Lazaro, C; Pujana, MA; Jakubowska, A; Gronwald, J; Lubinski, J; Sukiennicki, G; Barkardottir, RB; Plante, M; Simard, J; Soucy, P; Montagna, M; Tognazzo, S; Teixeira, MR; KConFab Investigators, ; Pankratz, VS; Wang, X; Lindor, N; Szabo, CI; Kauff, N; Vijai, J; Aghajanian, CA; Pfeiler, G; Berger, A; Singer, CF; Tea, M-K; Phelan, CM; Greene, MH; Mai, PL; Rennert, G; Mulligan, AM; Tchatchou, S; Andrulis, IL; Glendon, G; Toland, AE; Jensen, UB; Kruse, TA; Thomassen, M; Bojesen, A; Zidan, J; Friedman, E; Laitman, Y; Soller, M; Liljegren, A; Arver, B; Einbeigi, Z; Stenmark-Askmalm, M; Olopade, OI; Nussbaum, RL; Rebbeck, TR; Nathanson, KL; Domchek, SM; Lu, KH; Karlan, BY; Walsh, C; Lester, J; Australian Cancer Study (Ovarian Cancer Investigators), ; Australian Ovarian Cancer Study Group, ; Hein, A; Ekici, AB; Beckmann, MW; Fasching, PA; Lambrechts, D; Van Nieuwenhuysen, E; Vergote, I; Lambrechts, S; Dicks, E; Doherty, JA; Wicklund, KG; Rossing, MA; Rudolph, A; Chang-Claude, J; Wang-Gohrke, S; Eilber, U; Moysich, KB; Odunsi, K; Sucheston, L; Lele, S; Wilkens, LR; Goodman, MT; Thompson, PJ; Shvetsov, YB; Runnebaum, IB; Dürst, M; Hillemanns, P; Dörk, T; Antonenkova, N; Bogdanova, N; Leminen, A; Pelttari, LM; Butzow, R; Modugno, F; Kelley, JL; Edwards, RP; Ness, RB; du Bois, A; Heitz, F; Schwaab, I; Harter, P; Matsuo, K; Hosono, S; Orsulic, S; Jensen, A; Kjaer, SK; Hogdall, E; Hasmad, HN; Azmi, MAN; Teo, S-H; Woo, Y-L; Fridley, BL; Goode, EL; Cunningham, JM; Vierkant, RA; Bruinsma, F; Giles, GG; Liang, D; Hildebrandt, MAT; Wu, X; Levine, DA; Bisogna, M; Berchuck, A; Iversen, ES; Schildkraut, JM; Concannon, P; Weber, RP; Cramer, DW; Terry, KL; Poole, EM; Tworoger, SS; Bandera, EV; Orlow, I; Olson, SH; Krakstad, C; Salvesen, HB; Tangen, IL; Bjorge, L; van Altena, AM; Aben, KKH; Kiemeney, LA; Massuger, LFAG; Kellar, M; Brooks-Wilson, A; Kelemen, LE; Cook, LS; Le, ND; Cybulski, C; Yang, H; Lissowska, J; Brinton, LA; Wentzensen, N; Hogdall, C; Lundvall, L; Nedergaard, L; Baker, H; Song, H; Eccles, D; McNeish, I; Paul, J; Carty, K; Siddiqui, N; Glasspool, R; Whittemore, AS; Rothstein, JH; McGuire, V; Sieh, W; Ji, B-T; Zheng, W; Shu, X-O; Gao, Y-T; Rosen, B; Risch, HA; McLaughlin, JR; Narod, SA; Monteiro, AN; Chen, A; Lin, H-Y; Permuth-Wey, J; Sellers, TA; Tsai, Y-Y; Chen, Z; Ziogas, A; Anton-Culver, H; Gentry-Maharaj, A; Menon, U; Harrington, P; Lee, AW; Wu, AH; Pearce, CL; Coetzee, G; Pike, MC; Dansonka-Mieszkowska, A; Timorek, A; Rzepecka, IK; Kupryjanczyk, J; Freedman, M; Noushmehr, H; Easton, DF; Offit, K; Couch, FJ; Gayther, S; Pharoah, PP; Antoniou, AC; Chenevix-Trench, G; Consortium of Investigators of Modifiers of BRCA1 and BRCA2,
MLA Citation
Kuchenbaecker, KB, Ramus, SJ, Tyrer, J, Lee, A, Shen, HC, Beesley, J, Lawrenson, K, McGuffog, L, Healey, S, Lee, JM, Spindler, TJ, Lin, YG, Pejovic, T, Bean, Y, Li, Q, Coetzee, S, Hazelett, D, Miron, A, Southey, M, Terry, MB, Goldgar, DE, Buys, SS, Janavicius, R, Dorfling, CM, van Rensburg, EJ, Neuhausen, SL, Ding, YC, Hansen, TVO, Jønson, L, Gerdes, A-M, Ejlertsen, B, Barrowdale, D, Dennis, J, Benitez, J, Osorio, A, Garcia, MJ, Komenaka, I, Weitzel, JN, Ganschow, P, Peterlongo, P, Bernard, L, Viel, A, Bonanni, B, Peissel, B, Manoukian, S, Radice, P, Papi, L, Ottini, L, Fostira, F, Konstantopoulou, I, Garber, J, Frost, D, Perkins, J, Platte, R, Ellis, S, EMBRACE, , Godwin, AK, Schmutzler, RK, Meindl, A, Engel, C, Sutter, C, Sinilnikova, OM, GEMO Study Collaborators, , Damiola, F, Mazoyer, S, Stoppa-Lyonnet, D, Claes, K, De Leeneer, K, Kirk, J, Rodriguez, GC, Piedmonte, M, O'Malley, DM, de la Hoya, M, Caldes, T, Aittomäki, K, Nevanlinna, H, Collée, JM, Rookus, MA, Oosterwijk, JC, Breast Cancer Family Registry, , Tihomirova, L, Tung, N, Hamann, U, Isaccs, C, Tischkowitz, M, Imyanitov, EN, Caligo, MA, Campbell, IG, Hogervorst, FBL, HEBON, , Olah, E, Diez, O, Blanco, I, Brunet, J, Lazaro, C, Pujana, MA, Jakubowska, A, Gronwald, J, Lubinski, J, Sukiennicki, G, Barkardottir, RB, Plante, M, Simard, J, Soucy, P, Montagna, M, Tognazzo, S, Teixeira, MR, KConFab Investigators, , Pankratz, VS, Wang, X, Lindor, N, Szabo, CI, Kauff, N, Vijai, J, Aghajanian, CA, Pfeiler, G, Berger, A, Singer, CF, Tea, M-K, Phelan, CM, Greene, MH, Mai, PL, Rennert, G, Mulligan, AM, Tchatchou, S, Andrulis, IL, Glendon, G, Toland, AE, Jensen, UB, Kruse, TA, Thomassen, M, Bojesen, A, Zidan, J, Friedman, E, Laitman, Y, Soller, M, Liljegren, A, Arver, B, Einbeigi, Z, Stenmark-Askmalm, M, Olopade, OI, Nussbaum, RL, Rebbeck, TR, Nathanson, KL, Domchek, SM, Lu, KH, Karlan, BY, Walsh, C, Lester, J, Australian Cancer Study (Ovarian Cancer Investigators), , Australian Ovarian Cancer Study Group, , Hein, A, Ekici, AB, Beckmann, MW, Fasching, PA, Lambrechts, D, Van Nieuwenhuysen, E, Vergote, I, Lambrechts, S, Dicks, E, Doherty, JA, Wicklund, KG, Rossing, MA, Rudolph, A, Chang-Claude, J, Wang-Gohrke, S, Eilber, U, Moysich, KB, Odunsi, K, Sucheston, L, Lele, S, Wilkens, LR, Goodman, MT, Thompson, PJ, Shvetsov, YB, Runnebaum, IB, Dürst, M, Hillemanns, P, Dörk, T, Antonenkova, N, Bogdanova, N, Leminen, A, Pelttari, LM, Butzow, R, Modugno, F, Kelley, JL, Edwards, RP, Ness, RB, du Bois, A, Heitz, F, Schwaab, I, Harter, P, Matsuo, K, Hosono, S, Orsulic, S, Jensen, A, Kjaer, SK, Hogdall, E, Hasmad, HN, Azmi, MAN, Teo, S-H, Woo, Y-L, Fridley, BL, Goode, EL, Cunningham, JM, Vierkant, RA, Bruinsma, F, Giles, GG, Liang, D, Hildebrandt, MAT, Wu, X, Levine, DA, Bisogna, M, Berchuck, A, Iversen, ES, Schildkraut, JM, Concannon, P, Weber, RP, Cramer, DW, Terry, KL, Poole, EM, Tworoger, SS, Bandera, EV, Orlow, I, Olson, SH, Krakstad, C, Salvesen, HB, Tangen, IL, Bjorge, L, van Altena, AM, Aben, KKH, Kiemeney, LA, Massuger, LFAG, Kellar, M, Brooks-Wilson, A, Kelemen, LE, Cook, LS, Le, ND, Cybulski, C, Yang, H, Lissowska, J, Brinton, LA, Wentzensen, N, Hogdall, C, Lundvall, L, Nedergaard, L, Baker, H, Song, H, Eccles, D, McNeish, I, Paul, J, Carty, K, Siddiqui, N, Glasspool, R, Whittemore, AS, Rothstein, JH, McGuire, V, Sieh, W, Ji, B-T, Zheng, W, Shu, X-O, Gao, Y-T, Rosen, B, Risch, HA, McLaughlin, JR, Narod, SA, Monteiro, AN, Chen, A, Lin, H-Y, Permuth-Wey, J, Sellers, TA, Tsai, Y-Y, Chen, Z, Ziogas, A, Anton-Culver, H, Gentry-Maharaj, A, Menon, U, Harrington, P, Lee, AW, Wu, AH, Pearce, CL, Coetzee, G, Pike, MC, Dansonka-Mieszkowska, A, Timorek, A, Rzepecka, IK, Kupryjanczyk, J, Freedman, M, Noushmehr, H, Easton, DF, Offit, K, Couch, FJ, Gayther, S, Pharoah, PP, Antoniou, AC, Chenevix-Trench, G, and Consortium of Investigators of Modifiers of BRCA1 and BRCA2, . "Identification of six new susceptibility loci for invasive epithelial ovarian cancer." Nature Genetics 47.2 (February 2015): 164-171.
PMID
25581431
Source
epmc
Published In
Nature Genetics
Volume
47
Issue
2
Publish Date
2015
Start Page
164
End Page
171
DOI
10.1038/ng.3185

Vaginal Cuff Thermal Injury by Mode of Colpotomy at Total Laparoscopic Hysterectomy: A Randomized Clinical Trial

Authors
Teoh, D; Lowery, WJ; Jiang, X; Ehrisman, J; Halvorson, P; Broadwater, G; Bentley, R; Secord, AA; Sobolewski, C; Berchuck, A; Havrilesky, LJ; Valea, FA; Lee, PS
MLA Citation
Teoh, D, Lowery, WJ, Jiang, X, Ehrisman, J, Halvorson, P, Broadwater, G, Bentley, R, Secord, AA, Sobolewski, C, Berchuck, A, Havrilesky, LJ, Valea, FA, and Lee, PS. "Vaginal Cuff Thermal Injury by Mode of Colpotomy at Total Laparoscopic Hysterectomy: A Randomized Clinical Trial." JOURNAL OF MINIMALLY INVASIVE GYNECOLOGY 22.2 (February 2015): 227-233.
Source
wos-lite
Published In
Journal of Minimally Invasive Gynecology
Volume
22
Issue
2
Publish Date
2015
Start Page
227
End Page
233
DOI
10.1016/j.jmig.2014.10.002

Role of surgery in cancer prevention

Authors
Guillem, JG; Berchuck, A; Moley, JF; Norton, JA; Gabram-Mendola, SGA; Hui, VW
MLA Citation
Guillem, JG, Berchuck, A, Moley, JF, Norton, JA, Gabram-Mendola, SGA, and Hui, VW. "Role of surgery in cancer prevention." DeVita, Hellman, and Rosenberg's Cancer: Principles & Practice of Oncology: Tenth Edition. January 7, 2015.
Source
scopus
Publish Date
2015

Common Genetic Variation In Cellular Transport Genes and Epithelial Ovarian Cancer (EOC) Risk.

BACKGROUND:Defective cellular transport processes can lead to aberrant accumulation of trace elements, iron, small molecules and hormones in the cell, which in turn may promote the formation of reactive oxygen species, promoting DNA damage and aberrant expression of key regulatory cancer genes. As DNA damage and uncontrolled proliferation are hallmarks of cancer, including epithelial ovarian cancer (EOC), we hypothesized that inherited variation in the cellular transport genes contributes to EOC risk. METHODS:In total, DNA samples were obtained from 14,525 case subjects with invasive EOC and from 23,447 controls from 43 sites in the Ovarian Cancer Association Consortium (OCAC). Two hundred seventy nine SNPs, representing 131 genes, were genotyped using an Illumina Infinium iSelect BeadChip as part of the Collaborative Oncological Gene-environment Study (COGS). SNP analyses were conducted using unconditional logistic regression under a log-additive model, and the FDR q<0.2 was applied to adjust for multiple comparisons. RESULTS:The most significant evidence of an association for all invasive cancers combined and for the serous subtype was observed for SNP rs17216603 in the iron transporter gene HEPH (invasive: OR = 0.85, P = 0.00026; serous: OR = 0.81, P = 0.00020); this SNP was also associated with the borderline/low malignant potential (LMP) tumors (P = 0.021). Other genes significantly associated with EOC histological subtypes (p<0.05) included the UGT1A (endometrioid), SLC25A45 (mucinous), SLC39A11 (low malignant potential), and SERPINA7 (clear cell carcinoma). In addition, 1785 SNPs in six genes (HEPH, MGST1, SERPINA, SLC25A45, SLC39A11 and UGT1A) were imputed from the 1000 Genomes Project and examined for association with INV EOC in white-European subjects. The most significant imputed SNP was rs117729793 in SLC39A11 (per allele, OR = 2.55, 95% CI = 1.5-4.35, p = 5.66x10-4). CONCLUSION:These results, generated on a large cohort of women, revealed associations between inherited cellular transport gene variants and risk of EOC histologic subtypes.

Authors
Chornokur, G; Lin, H-Y; Tyrer, JP; Lawrenson, K; Dennis, J; Amankwah, EK; Qu, X; Tsai, Y-Y; Jim, HSL; Chen, Z; Chen, AY; Permuth-Wey, J; Aben, KKH; Anton-Culver, H; Antonenkova, N; Bruinsma, F; Bandera, EV; Bean, YT; Beckmann, MW; Bisogna, M; Bjorge, L; Bogdanova, N; Brinton, LA; Brooks-Wilson, A; Bunker, CH; Butzow, R; Campbell, IG; Carty, K; Chang-Claude, J; Cook, LS; Cramer, DW; Cunningham, JM; Cybulski, C; Dansonka-Mieszkowska, A; du Bois, A; Despierre, E; Dicks, E; Doherty, JA; Dörk, T; Dürst, M; Easton, DF; Eccles, DM; Edwards, RP; Ekici, AB; Fasching, PA; Fridley, BL; Gao, Y-T; Gentry-Maharaj, A; Giles, GG; Glasspool, R; Goodman, MT; Gronwald, J; Harrington, P; Harter, P; Hein, A; Heitz, F; Hildebrandt, MAT; Hillemanns, P; Hogdall, CK; Hogdall, E; Hosono, S; Jakubowska, A; Jensen, A; Ji, B-T; Karlan, BY; Kelemen, LE; Kellar, M; Kiemeney, LA; Krakstad, C; Kjaer, SK; Kupryjanczyk, J; Lambrechts, D; Lambrechts, S; Le, ND; Lee, AW; Lele, S; Leminen, A; Lester, J; Levine, DA; Liang, D; Lim, BK; Lissowska, J; Lu, K; Lubinski, J; Lundvall, L; Massuger, LFAG; Matsuo, K; McGuire, V; McLaughlin, JR; McNeish, I; Menon, U; Milne, RL; Modugno, F; Moysich, KB; Ness, RB; Nevanlinna, H; Eilber, U; Odunsi, K; Olson, SH; Orlow, I; Orsulic, S; Weber, RP; Paul, J; Pearce, CL; Pejovic, T; Pelttari, LM; Pike, MC; Poole, EM; Risch, HA; Rosen, B; Rossing, MA; Rothstein, JH; Rudolph, A; Runnebaum, IB; Rzepecka, IK; Salvesen, HB; Schernhammer, E; Schwaab, I; Shu, X-O; Shvetsov, YB; Siddiqui, N; Sieh, W; Song, H; Southey, MC; Spiewankiewicz, B; Sucheston, L; Teo, S-H; Terry, KL; Thompson, PJ; Thomsen, L; Tangen, IL; Tworoger, SS; van Altena, AM; Vierkant, RA; Vergote, I; Walsh, CS; Wang-Gohrke, S; Wentzensen, N; Whittemore, AS; Wicklund, KG; Wilkens, LR; Wu, AH; Wu, X; Woo, Y-L; Yang, H; Zheng, W; Ziogas, A; Hasmad, HN; Berchuck, A; Georgia Chenevix-Trench, ; AOCS management group, ; Iversen, ES; Schildkraut, JM; Ramus, SJ; Goode, EL; Monteiro, ANA; Gayther, SA; Narod, SA; Pharoah, PDP; Sellers, TA; Phelan, CM
MLA Citation
Chornokur, G, Lin, H-Y, Tyrer, JP, Lawrenson, K, Dennis, J, Amankwah, EK, Qu, X, Tsai, Y-Y, Jim, HSL, Chen, Z, Chen, AY, Permuth-Wey, J, Aben, KKH, Anton-Culver, H, Antonenkova, N, Bruinsma, F, Bandera, EV, Bean, YT, Beckmann, MW, Bisogna, M, Bjorge, L, Bogdanova, N, Brinton, LA, Brooks-Wilson, A, Bunker, CH, Butzow, R, Campbell, IG, Carty, K, Chang-Claude, J, Cook, LS, Cramer, DW, Cunningham, JM, Cybulski, C, Dansonka-Mieszkowska, A, du Bois, A, Despierre, E, Dicks, E, Doherty, JA, Dörk, T, Dürst, M, Easton, DF, Eccles, DM, Edwards, RP, Ekici, AB, Fasching, PA, Fridley, BL, Gao, Y-T, Gentry-Maharaj, A, Giles, GG, Glasspool, R, Goodman, MT, Gronwald, J, Harrington, P, Harter, P, Hein, A, Heitz, F, Hildebrandt, MAT, Hillemanns, P, Hogdall, CK, Hogdall, E, Hosono, S, Jakubowska, A, Jensen, A, Ji, B-T, Karlan, BY, Kelemen, LE, Kellar, M, Kiemeney, LA, Krakstad, C, Kjaer, SK, Kupryjanczyk, J, Lambrechts, D, Lambrechts, S, Le, ND, Lee, AW, Lele, S, Leminen, A, Lester, J, Levine, DA, Liang, D, Lim, BK, Lissowska, J, Lu, K, Lubinski, J, Lundvall, L, Massuger, LFAG, Matsuo, K, McGuire, V, McLaughlin, JR, McNeish, I, Menon, U, Milne, RL, Modugno, F, Moysich, KB, Ness, RB, Nevanlinna, H, Eilber, U, Odunsi, K, Olson, SH, Orlow, I, Orsulic, S, Weber, RP, Paul, J, Pearce, CL, Pejovic, T, Pelttari, LM, Pike, MC, Poole, EM, Risch, HA, Rosen, B, Rossing, MA, Rothstein, JH, Rudolph, A, Runnebaum, IB, Rzepecka, IK, Salvesen, HB, Schernhammer, E, Schwaab, I, Shu, X-O, Shvetsov, YB, Siddiqui, N, Sieh, W, Song, H, Southey, MC, Spiewankiewicz, B, Sucheston, L, Teo, S-H, Terry, KL, Thompson, PJ, Thomsen, L, Tangen, IL, Tworoger, SS, van Altena, AM, Vierkant, RA, Vergote, I, Walsh, CS, Wang-Gohrke, S, Wentzensen, N, Whittemore, AS, Wicklund, KG, Wilkens, LR, Wu, AH, Wu, X, Woo, Y-L, Yang, H, Zheng, W, Ziogas, A, Hasmad, HN, Berchuck, A, Georgia Chenevix-Trench, , AOCS management group, , Iversen, ES, Schildkraut, JM, Ramus, SJ, Goode, EL, Monteiro, ANA, Gayther, SA, Narod, SA, Pharoah, PDP, Sellers, TA, and Phelan, CM. "Common Genetic Variation In Cellular Transport Genes and Epithelial Ovarian Cancer (EOC) Risk." Plos One 10.6 (January 2015): e0128106-null.
PMID
26091520
Source
epmc
Published In
Plos One
Volume
10
Issue
6
Publish Date
2015
Start Page
e0128106
DOI
10.1371/journal.pone.0128106

Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC).

Disruption in circadian gene expression, whether due to genetic variation or environmental factors (e.g., light at night, shiftwork), is associated with increased incidence of breast, prostate, gastrointestinal and hematologic cancers and gliomas. Circadian genes are highly expressed in the ovaries where they regulate ovulation; circadian disruption is associated with several ovarian cancer risk factors (e.g., endometriosis). However, no studies have examined variation in germline circadian genes as predictors of ovarian cancer risk and invasiveness. The goal of the current study was to examine single nucleotide polymorphisms (SNPs) in circadian genes BMAL1, CRY2, CSNK1E, NPAS2, PER3, REV1 and TIMELESS and downstream transcription factors KLF10 and SENP3 as predictors of risk of epithelial ovarian cancer (EOC) and histopathologic subtypes. The study included a test set of 3,761 EOC cases and 2,722 controls and a validation set of 44,308 samples including 18,174 (10,316 serous) cases and 26,134 controls from 43 studies participating in the Ovarian Cancer Association Consortium (OCAC). Analysis of genotype data from 36 genotyped SNPs and 4600 imputed SNPs indicated that the most significant association was rs117104877 in BMAL1 (OR = 0.79, 95% CI = 0.68-0.90, p = 5.59 × 10(-4)]. Functional analysis revealed a significant down regulation of BMAL1 expression following cMYC overexpression and increasing transformation in ovarian surface epithelial (OSE) cells as well as alternative splicing of BMAL1 exons in ovarian and granulosa cells. These results suggest that variation in circadian genes, and specifically BMAL1, may be associated with risk of ovarian cancer, likely through disruption of hormonal pathways.

Authors
Jim, HSL; Lin, H-Y; Tyrer, JP; Lawrenson, K; Dennis, J; Chornokur, G; Chen, Z; Chen, AY; Permuth-Wey, J; Aben, KK; Anton-Culver, H; Antonenkova, N; Bruinsma, F; Bandera, EV; Bean, YT; Beckmann, MW; Bisogna, M; Bjorge, L; Bogdanova, N; Brinton, LA; Brooks-Wilson, A; Bunker, CH; Butzow, R; Campbell, IG; Carty, K; Chang-Claude, J; Cook, LS; Cramer, DW; Cunningham, JM; Cybulski, C; Dansonka-Mieszkowska, A; du Bois, A; Despierre, E; Sieh, W; Doherty, JA; Dörk, T; Dürst, M; Easton, DF; Eccles, DM et al.
MLA Citation
Jim, HSL, Lin, H-Y, Tyrer, JP, Lawrenson, K, Dennis, J, Chornokur, G, Chen, Z, Chen, AY, Permuth-Wey, J, Aben, KK, Anton-Culver, H, Antonenkova, N, Bruinsma, F, Bandera, EV, Bean, YT, Beckmann, MW, Bisogna, M, Bjorge, L, Bogdanova, N, Brinton, LA, Brooks-Wilson, A, Bunker, CH, Butzow, R, Campbell, IG, Carty, K, Chang-Claude, J, Cook, LS, Cramer, DW, Cunningham, JM, Cybulski, C, Dansonka-Mieszkowska, A, du Bois, A, Despierre, E, Sieh, W, Doherty, JA, Dörk, T, Dürst, M, Easton, DF, and Eccles, DM et al. "Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC)." Journal of genetics and genome research 2.2 (January 2015).
PMID
26807442
Source
epmc
Published In
Journal of Genetics and Genome Research
Volume
2
Issue
2
Publish Date
2015

Prognostic significance of differential expression of angiogenic genes in women with high-grade serous ovarian carcinoma

© 2015 Elsevier Inc. All rights reserved.Objectives To identify angiogenic biomarkers associated with tumor angiogenesis and clinical outcome in high-grade serous ovarian cancer (HGSC). Methods 51 HGSC samples were analyzed using Affymetrix HG-U133A microarray. Microvessel density (MVD) counts were determined using CD31 and CD105. Associations between mRNA expression levels and overall survival were assessed using rank score statistic. Effect size was estimated as a hazard ratio (HR) under a proportional hazard model. The Storey q-value method was used to account for multiple testing within the false-discovery rate (FDR) framework. Publicly available databases including TCGA and GSE were used for external confirmation. Results Thirty-one angiogenic-related genes were significantly associated with survival (q 0.05). Of these 31 genes, 4 were also associated with outcome in the TCGA data: AKT1 (q = 0.02; TCGA p = 0.01, HR = 0.8), CD44 (q = 0.003; TCGA p = 0.05, HR = 0.9), EPHB2 (q = 0.01; TCGA p = 0.05, HR = 1.2), and ERBB2 (q = 0.02; TCGA p = 0.05, HR = 1.2). While 5 were associated with outcome in the GSE database: FLT1 (q = 0.03; GSE26712 p = 0.01, HR = 3.1); PF4 (q = 0.02; GSE26712 p = 0.01, HR = 3.0); NRP1 (q = 0.02; GSE26712 p 0.04, HR 1.4); COL4A3 (q = 0.04; GSE26712 p = 0.03, HR = 1.3); and ANGPTL3 (q = 0.02; GSE14764 p = 0.02, HR = 1.5). High AKT1 and CD44 were associated with longer survival. In contrast, high expression of EPHB2, ERBB2, FLT1; PF4, NRP1, COL4A3, and ANGPTL3 were associated with shorter survival. CD105-MVD and CD31-MVD were not significantly associated with angiogenic gene expression. Conclusions Thirty-one angiogenic-related genes were associated with survival in advanced HGSC and nine of these genes were confirmed in independent publicly available databases.

Authors
Siamakpour-Reihani, S; Owzar, K; Jiang, C; Turner, T; Deng, Y; Bean, SM; Horton, JK; Berchuck, A; Marks, JR; Dewhirst, MW; Secord, AA
MLA Citation
Siamakpour-Reihani, S, Owzar, K, Jiang, C, Turner, T, Deng, Y, Bean, SM, Horton, JK, Berchuck, A, Marks, JR, Dewhirst, MW, and Secord, AA. "Prognostic significance of differential expression of angiogenic genes in women with high-grade serous ovarian carcinoma." Gynecologic Oncology 139.1 (2015): 23-29.
Source
scival
Published In
Gynecologic Oncology
Volume
139
Issue
1
Publish Date
2015
Start Page
23
End Page
29
DOI
10.1016/j.ygyno.2015.08.001

Patient preferences in advanced or recurrent ovarian cancer.

The objective of this study was to elucidate relative preferences of women with ovarian cancer for symptoms, treatment-related side effects, and progression-free survival (PFS) relevant to choosing a treatment regimen.Women with advanced or recurrent ovarian cancer participated in a survey that included 3 methods to measure patient preferences (ratings, rankings, and a discrete-choice experiment) for 7 attributes: mode of administration, visit frequency, peripheral neuropathy, nausea and vomiting, fatigue, abdominal discomfort, and PFS. Participants were asked to choose between 2 unlabeled treatment scenarios that were characterized using the 7 attributes. Each participant completed 12 choice questions in which attribute levels were assigned according to an experimental design and a fixed-choice question representing 2 chemotherapy regimens for ovarian cancer.In total, 95 women completed the survey. Participants' ratings and rankings revealed greater concern and importance for PFS than for any other attribute (P < .0001 for all). The discrete-choice experiment revealed that the relative odds that a participant would choose a scenario with 18 months, 21 months, and 24 months of PFS versus 15 months of PFS were 1.5 (P = .01), 3.4 (P < .001), and 7.5 (P < .001), respectively. However, participants' choices indicated that they were willing to accept a shorter PFS to avoid severe side effects: 6.7 months to reduce nausea and vomiting from severe to mild, 5.0 months to reduce neuropathy from severe to mild, and 3.7 months to reduce abdominal symptoms from severe to moderate.PFS is the predominant driver of patient preferences for chemotherapy regimens. However, women in the current study were willing to trade significant PFS time for reductions in treatment-related toxicity.

Authors
Havrilesky, LJ; Alvarez Secord, A; Ehrisman, JA; Berchuck, A; Valea, FA; Lee, PS; Gaillard, SL; Samsa, GP; Cella, D; Weinfurt, KP; Abernethy, AP; Reed, SD
MLA Citation
Havrilesky, LJ, Alvarez Secord, A, Ehrisman, JA, Berchuck, A, Valea, FA, Lee, PS, Gaillard, SL, Samsa, GP, Cella, D, Weinfurt, KP, Abernethy, AP, and Reed, SD. "Patient preferences in advanced or recurrent ovarian cancer." Cancer 120.23 (December 2014): 3651-3659.
PMID
25091693
Source
epmc
Published In
Cancer
Volume
120
Issue
23
Publish Date
2014
Start Page
3651
End Page
3659
DOI
10.1002/cncr.28940

Biology and genetics

Authors
Gaillard, S; Maxwell, GL; Sood, AK; Berchuck, A
MLA Citation
Gaillard, S, Maxwell, GL, Sood, AK, and Berchuck, A. "Biology and genetics." Berek and Hacker's Gynecologic Oncology: Sixth Edition. November 11, 2014. 2-38.
Source
scopus
Publish Date
2014
Start Page
2
End Page
38

LIFETIME RISK OF OVARIAN CANCER BASED ON ENDOMETRIOSIS AND OTHER RISK FACTORS

Authors
Ness, R; Pearce, CPC; Stram, DSD; Berchuck, ABA; Pike, MPM; Pharoah, PPP; OCAC,
MLA Citation
Ness, R, Pearce, CPC, Stram, DSD, Berchuck, ABA, Pike, MPM, Pharoah, PPP, and OCAC, . "LIFETIME RISK OF OVARIAN CANCER BASED ON ENDOMETRIOSIS AND OTHER RISK FACTORS." INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER 24.9 (November 2014): 441-442.
Source
wos-lite
Published In
International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society
Volume
24
Issue
9
Publish Date
2014
Start Page
441
End Page
442

PROPHYLACTIC OOPHORECTOMY FOR HEREDITARY SMALL-CELL CARCINOMA OF THE OVARY, HYPERCALCEMIC TYPE

Authors
Berchuck, A; Witkowski, L; Hasselblatt, M; Wallace, A; Clarke, BA; Foulkes, WD
MLA Citation
Berchuck, A, Witkowski, L, Hasselblatt, M, Wallace, A, Clarke, BA, and Foulkes, WD. "PROPHYLACTIC OOPHORECTOMY FOR HEREDITARY SMALL-CELL CARCINOMA OF THE OVARY, HYPERCALCEMIC TYPE." INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER 24.9 (November 2014): 961-962.
Source
wos-lite
Published In
International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society
Volume
24
Issue
9
Publish Date
2014
Start Page
961
End Page
962

ENDOMETRIOSIS AND OVARIAN CANCER: AN INTERNATIONAL POOLED ANALYSIS

Authors
Ness, R; Pearce, CPC; Templeman, CTC; Wu, AWA; Berchuck, ABA; OCAC,
MLA Citation
Ness, R, Pearce, CPC, Templeman, CTC, Wu, AWA, Berchuck, ABA, and OCAC, . "ENDOMETRIOSIS AND OVARIAN CANCER: AN INTERNATIONAL POOLED ANALYSIS." INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER 24.9 (November 2014): 439-440.
Source
wos-lite
Published In
International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society
Volume
24
Issue
9
Publish Date
2014
Start Page
439
End Page
440

IDENTIFICATION OF SIX NOVEL, COMMON VARIANT GENETIC SUSCEPTIBILITY LOCI FOR INVASIVE EPITHELIAL OVARIAN CANCER

Authors
Berchuck, A; Kuchenbaecker, K; Ramus, SJ; Tyrer, JP; Gayther, SA; Pharoah, PDP; Antoniou, AC; Chenevix-Trench, G
MLA Citation
Berchuck, A, Kuchenbaecker, K, Ramus, SJ, Tyrer, JP, Gayther, SA, Pharoah, PDP, Antoniou, AC, and Chenevix-Trench, G. "IDENTIFICATION OF SIX NOVEL, COMMON VARIANT GENETIC SUSCEPTIBILITY LOCI FOR INVASIVE EPITHELIAL OVARIAN CANCER." INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER 24.9 (November 2014): 13-13.
Source
wos-lite
Published In
International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society
Volume
24
Issue
9
Publish Date
2014
Start Page
13
End Page
13

Abstract 4570: Role of ERRalpha in ovarian cancer

Authors
Stevens, EV; Whitaker, R; Guinet, A; Chang, C-Y; Grenier, C; Marks, J; McDonnell, DP; Murphy, SK; Berchuck, A; Gaillard, S
MLA Citation
Stevens, EV, Whitaker, R, Guinet, A, Chang, C-Y, Grenier, C, Marks, J, McDonnell, DP, Murphy, SK, Berchuck, A, and Gaillard, S. "Abstract 4570: Role of ERRalpha in ovarian cancer." October 1, 2014.
Source
crossref
Published In
Cancer Research
Volume
74
Issue
19 Supplement
Publish Date
2014
Start Page
4570
End Page
4570
DOI
10.1158/1538-7445.AM2014-4570

Abstract 3283: GWAS identifies risk variants for mucinous ovarian carcinoma

Authors
Kelemen, LE; Tyrer, J; Phelan, CM; Ramus, SJ; Berchuck, A; Gayther, SA; Goode, EL; Pearce, CL; Schildkraut, JM; Chenevix-Trench, G; Monteiro, AN; Goodman, MT; Sellers, TA; Pharoah, PP
MLA Citation
Kelemen, LE, Tyrer, J, Phelan, CM, Ramus, SJ, Berchuck, A, Gayther, SA, Goode, EL, Pearce, CL, Schildkraut, JM, Chenevix-Trench, G, Monteiro, AN, Goodman, MT, Sellers, TA, and Pharoah, PP. "Abstract 3283: GWAS identifies risk variants for mucinous ovarian carcinoma." October 1, 2014.
Source
crossref
Published In
Cancer Research
Volume
74
Issue
19 Supplement
Publish Date
2014
Start Page
3283
End Page
3283
DOI
10.1158/1538-7445.AM2014-3283

Abstract 946: Exome genotyping array identifies rare and low-frequency variants that may be associated with ovarian cancer risk

Authors
Permuth-Wey, J; Chen, YA; Chen, Z; Berchuck, A; Chenevix-Trench, G; Doherty, J; Gayther, S; Goode, EL; Iversen, E; Monteiro, AN; Pearce, L; Pharoah, PD; Phelan, CM; Pirie, A; Ramus, S; Rossing, MA; Schildkraut, JM
MLA Citation
Permuth-Wey, J, Chen, YA, Chen, Z, Berchuck, A, Chenevix-Trench, G, Doherty, J, Gayther, S, Goode, EL, Iversen, E, Monteiro, AN, Pearce, L, Pharoah, PD, Phelan, CM, Pirie, A, Ramus, S, Rossing, MA, and Schildkraut, JM. "Abstract 946: Exome genotyping array identifies rare and low-frequency variants that may be associated with ovarian cancer risk." October 1, 2014.
Source
crossref
Published In
Cancer Research
Volume
74
Issue
19 Supplement
Publish Date
2014
Start Page
946
End Page
946
DOI
10.1158/1538-7445.AM2014-946

Abstract LB-89: Germ-line and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

Authors
Witkowski, L; Carrot-Zhang, J; Albrecht, S; Hamel, N; Tomiak, E; Grynspan, D; Saloustros, E; Gilpin, C; Silva-Smith, R; Plourde, F; Rivera, B; Castellsagué, E; Wu, M; Fahiminiya, S; Nadaf, J; Saskin, A; Arseneault, M; Karabakhtsian, RG; Reilly, EA; Ueland, FR; Margiolaki, A; Pavlakis, K; Castellino, SM; Lamovec, J; Roth, LM; Ulbright, TM; Bender, T; Longy, M; Berchuck, A; Tischkowitz, M; Siebert, R; Nagel, I; Georgoulias, V; Stewart, CJ; McCluggage, G; Arseneau, J; Clarke, BA; Riazalhosseini, Y et al.
MLA Citation
Witkowski, L, Carrot-Zhang, J, Albrecht, S, Hamel, N, Tomiak, E, Grynspan, D, Saloustros, E, Gilpin, C, Silva-Smith, R, Plourde, F, Rivera, B, Castellsagué, E, Wu, M, Fahiminiya, S, Nadaf, J, Saskin, A, Arseneault, M, Karabakhtsian, RG, Reilly, EA, Ueland, FR, Margiolaki, A, Pavlakis, K, Castellino, SM, Lamovec, J, Roth, LM, Ulbright, TM, Bender, T, Longy, M, Berchuck, A, Tischkowitz, M, Siebert, R, Nagel, I, Georgoulias, V, Stewart, CJ, McCluggage, G, Arseneau, J, Clarke, BA, and Riazalhosseini, Y et al. "Abstract LB-89: Germ-line and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type." October 1, 2014.
Source
crossref
Published In
Cancer Research
Volume
74
Issue
19 Supplement
Publish Date
2014
Start Page
LB-89
End Page
LB-89
DOI
10.1158/1538-7445.AM2014-LB-89

Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk.

SCOPE:We reevaluated previously reported associations between variants in pathways of one-carbon (1-C) (folate) transfer genes and ovarian carcinoma (OC) risk, and in related pathways of purine and pyrimidine metabolism, and assessed interactions with folate intake. METHODS AND RESULTS:Odds ratios (OR) for 446 genetic variants were estimated among 13,410 OC cases and 22,635 controls, and among 2281 cases and 3444 controls with folate information. Following multiple testing correction, the most significant main effect associations were for dihydropyrimidine dehydrogenase (DPYD) variants rs11587873 (OR = 0.92; p = 6 × 10⁻⁵) and rs828054 (OR = 1.06; p = 1 × 10⁻⁴). Thirteen variants in the pyrimidine metabolism genes, DPYD, DPYS, PPAT, and TYMS, also interacted significantly with folate in a multivariant analysis (corrected p = 9.9 × 10⁻⁶) but collectively explained only 0.2% of OC risk. Although no other associations were significant after multiple testing correction, variants in SHMT1 in 1-C transfer, previously reported with OC, suggested lower risk at higher folate (p(interaction) = 0.03-0.006). CONCLUSION:Variation in pyrimidine metabolism genes, particularly DPYD, which was previously reported to be associated with OC, may influence risk; however, stratification by folate intake is unlikely to modify disease risk appreciably in these women. SHMT1 SNP-by-folate interactions are plausible but require further validation. Polymorphisms in selected genes in purine metabolism were not associated with OC.

Authors
Kelemen, LE; Terry, KL; Goodman, MT; Webb, PM; Bandera, EV; McGuire, V; Rossing, MA; Wang, Q; Dicks, E; Tyrer, JP; Song, H; Kupryjanczyk, J; Dansonka-Mieszkowska, A; Plisiecka-Halasa, J; Timorek, A; Menon, U; Gentry-Maharaj, A; Gayther, SA; Ramus, SJ; Narod, SA; Risch, HA; McLaughlin, JR; Siddiqui, N; Glasspool, R; Paul, J; Carty, K; Gronwald, J; Lubiński, J; Jakubowska, A; Cybulski, C; Kiemeney, LA; Massuger, LFAG; van Altena, AM; Aben, KKH; Olson, SH; Orlow, I; Cramer, DW; Levine, DA; Bisogna, M; Giles, GG; Southey, MC; Bruinsma, F; Kjaer, SK; Høgdall, E; Jensen, A; Høgdall, CK; Lundvall, L; Engelholm, S-A; Heitz, F; du Bois, A; Harter, P; Schwaab, I; Butzow, R; Nevanlinna, H; Pelttari, LM; Leminen, A; Thompson, PJ; Lurie, G; Wilkens, LR; Lambrechts, D; Van Nieuwenhuysen, E; Lambrechts, S; Vergote, I; Beesley, J; AOCS Study Group/ACS Investigators, ; Fasching, PA; Beckmann, MW; Hein, A; Ekici, AB; Doherty, JA; Wu, AH; Pearce, CL; Pike, MC; Stram, D; Chang-Claude, J; Rudolph, A; Dörk, T; Dürst, M; Hillemanns, P; Runnebaum, IB; Bogdanova, N; Antonenkova, N; Odunsi, K; Edwards, RP; Kelley, JL; Modugno, F; Ness, RB; Karlan, BY; Walsh, C; Lester, J; Orsulic, S; Fridley, BL; Vierkant, RA; Cunningham, JM; Wu, X; Lu, K; Liang, D; Hildebrandt, MAT; Weber, RP; Iversen, ES; Tworoger, SS; Poole, EM; Salvesen, HB; Krakstad, C; Bjorge, L; Tangen, IL; Pejovic, T; Bean, Y; Kellar, M; Wentzensen, N; Brinton, LA; Lissowska, J; Garcia-Closas, M; Campbell, IG; Eccles, D; Whittemore, AS; Sieh, W; Rothstein, JH; Anton-Culver, H; Ziogas, A; Phelan, CM; Moysich, KB; Goode, EL; Schildkraut, JM; Berchuck, A; Pharoah, PDP; Sellers, TA; Brooks-Wilson, A; Cook, LS; Le, ND
MLA Citation
Kelemen, LE, Terry, KL, Goodman, MT, Webb, PM, Bandera, EV, McGuire, V, Rossing, MA, Wang, Q, Dicks, E, Tyrer, JP, Song, H, Kupryjanczyk, J, Dansonka-Mieszkowska, A, Plisiecka-Halasa, J, Timorek, A, Menon, U, Gentry-Maharaj, A, Gayther, SA, Ramus, SJ, Narod, SA, Risch, HA, McLaughlin, JR, Siddiqui, N, Glasspool, R, Paul, J, Carty, K, Gronwald, J, Lubiński, J, Jakubowska, A, Cybulski, C, Kiemeney, LA, Massuger, LFAG, van Altena, AM, Aben, KKH, Olson, SH, Orlow, I, Cramer, DW, Levine, DA, Bisogna, M, Giles, GG, Southey, MC, Bruinsma, F, Kjaer, SK, Høgdall, E, Jensen, A, Høgdall, CK, Lundvall, L, Engelholm, S-A, Heitz, F, du Bois, A, Harter, P, Schwaab, I, Butzow, R, Nevanlinna, H, Pelttari, LM, Leminen, A, Thompson, PJ, Lurie, G, Wilkens, LR, Lambrechts, D, Van Nieuwenhuysen, E, Lambrechts, S, Vergote, I, Beesley, J, AOCS Study Group/ACS Investigators, , Fasching, PA, Beckmann, MW, Hein, A, Ekici, AB, Doherty, JA, Wu, AH, Pearce, CL, Pike, MC, Stram, D, Chang-Claude, J, Rudolph, A, Dörk, T, Dürst, M, Hillemanns, P, Runnebaum, IB, Bogdanova, N, Antonenkova, N, Odunsi, K, Edwards, RP, Kelley, JL, Modugno, F, Ness, RB, Karlan, BY, Walsh, C, Lester, J, Orsulic, S, Fridley, BL, Vierkant, RA, Cunningham, JM, Wu, X, Lu, K, Liang, D, Hildebrandt, MAT, Weber, RP, Iversen, ES, Tworoger, SS, Poole, EM, Salvesen, HB, Krakstad, C, Bjorge, L, Tangen, IL, Pejovic, T, Bean, Y, Kellar, M, Wentzensen, N, Brinton, LA, Lissowska, J, Garcia-Closas, M, Campbell, IG, Eccles, D, Whittemore, AS, Sieh, W, Rothstein, JH, Anton-Culver, H, Ziogas, A, Phelan, CM, Moysich, KB, Goode, EL, Schildkraut, JM, Berchuck, A, Pharoah, PDP, Sellers, TA, Brooks-Wilson, A, Cook, LS, and Le, ND. "Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk." Molecular Nutrition & Food Research 58.10 (October 2014): 2023-2035.
PMID
25066213
Source
epmc
Published In
Molecular Nutrition & Food Research
Volume
58
Issue
10
Publish Date
2014
Start Page
2023
End Page
2035
DOI
10.1002/mnfr.201400068

Modifizierter doppelt gestielter VRAM-Lappen zur simultanen Rekonstruktion eines Perineum- und posterioren vaginalen Defekts

Authors
Kokosis, G; Schmitz, R; Secord, A; Havrilesky, L; Berchuck, A; Mantyh, C; Erdmann, D
MLA Citation
Kokosis, G, Schmitz, R, Secord, A, Havrilesky, L, Berchuck, A, Mantyh, C, and Erdmann, D. "Modifizierter doppelt gestielter VRAM-Lappen zur simultanen Rekonstruktion eines Perineum- und posterioren vaginalen Defekts." Der Gynäkologe 47.10 (October 2014): 784-787.
Source
crossref
Published In
Der Gynäkologe
Volume
47
Issue
10
Publish Date
2014
Start Page
784
End Page
787
DOI
10.1007/s00129-014-3448-3

Epigenetic determinants of ovarian clear cell carcinoma biology.

Targeted approaches have revealed frequent epigenetic alterations in ovarian cancer, but the scope and relation of these changes to histologic subtype of disease is unclear. Genome-wide methylation and expression data for 14 clear cell carcinoma (CCC), 32 non-CCC and four corresponding normal cell lines were generated to determine how methylation profiles differ between cells of different histological derivations of ovarian cancer. Consensus clustering showed that CCC is epigenetically distinct. Inverse relationships between expression and methylation in CCC were identified, suggesting functional regulation by methylation, and included 22 hypomethylated (UM) genes and 276 hypermethylated (HM) genes. Categorical and pathway analyses indicated that the CCC-specific UM genes were involved in response to stress and many contain hepatocyte nuclear factor (HNF) 1-binding sites, while the CCC-specific HM genes included members of the estrogen receptor alpha (ERalpha) network and genes involved in tumor development. We independently validated the methylation status of 17 of these pathway-specific genes, and confirmed increased expression of HNF1 network genes and repression of ERalpha pathway genes in CCC cell lines and primary cancer tissues relative to non-CCC specimens. Treatment of three CCC cell lines with the demethylating agent Decitabine significantly induced expression for all five genes analyzed. Coordinate changes in pathway expression were confirmed using two primary ovarian cancer datasets (p < 0.0001 for both). Our results suggest that methylation regulates specific pathways and biological functions in CCC, with hypomethylation influencing the characteristic biology of the disease while hypermethylation contributes to the carcinogenic process.

Authors
Yamaguchi, K; Huang, Z; Matsumura, N; Mandai, M; Okamoto, T; Baba, T; Konishi, I; Berchuck, A; Murphy, SK
MLA Citation
Yamaguchi, K, Huang, Z, Matsumura, N, Mandai, M, Okamoto, T, Baba, T, Konishi, I, Berchuck, A, and Murphy, SK. "Epigenetic determinants of ovarian clear cell carcinoma biology." Int J Cancer 135.3 (August 1, 2014): 585-597.
PMID
24382740
Source
pubmed
Published In
International Journal of Cancer
Volume
135
Issue
3
Publish Date
2014
Start Page
585
End Page
597
DOI
10.1002/ijc.28701

Epigenetic determinants of ovarian clear cell carcinoma biology

Targeted approaches have revealed frequent epigenetic alterations in ovarian cancer, but the scope and relation of these changes to histologic subtype of disease is unclear. Genome-wide methylation and expression data for 14 clear cell carcinoma (CCC), 32 non-CCC and four corresponding normal cell lines were generated to determine how methylation profiles differ between cells of different histological derivations of ovarian cancer. Consensus clustering showed that CCC is epigenetically distinct. Inverse relationships between expression and methylation in CCC were identified, suggesting functional regulation by methylation, and included 22 hypomethylated (UM) genes and 276 hypermethylated (HM) genes. Categorical and pathway analyses indicated that the CCC-specific UM genes were involved in response to stress and many contain hepatocyte nuclear factor (HNF) 1-binding sites, while the CCC-specific HM genes included members of the estrogen receptor alpha (ERalpha) network and genes involved in tumor development. We independently validated the methylation status of 17 of these pathway-specific genes, and confirmed increased expression of HNF1 network genes and repression of ERalpha pathway genes in CCC cell lines and primary cancer tissues relative to non-CCC specimens. Treatment of three CCC cell lines with the demethylating agent Decitabine significantly induced expression for all five genes analyzed. Coordinate changes in pathway expression were confirmed using two primary ovarian cancer datasets (p < 0.0001 for both). Our results suggest that methylation regulates specific pathways and biological functions in CCC, with hypomethylation influencing the characteristic biology of the disease while hypermethylation contributes to the carcinogenic process. What's new? Ovarian cancer has several subtypes, and although different genetic mutations have been associated with particular subtypes, the molecular characteristics of ovarian clear cell carcinoma remain hazy. Aberrant DNA methylation can turn cells cancerous, and this study compared patterns of gene methylation in ovarian clear cell carcinomas, other ovarian cancer cells, and normal cells. They found that the clear cell carcinomas could indeed be identified by their distinctive pattern of DNA methylation. They found that this methylation pattern increased expression of certain stress response genes, while other genes, with tumor suppressive functions, were stifled. © 2013 UICC.

Authors
Yamaguchi, K; Huang, Z; Matsumura, N; Mandai, M; Okamoto, T; Baba, T; Konishi, I; Berchuck, A; Murphy, SK
MLA Citation
Yamaguchi, K, Huang, Z, Matsumura, N, Mandai, M, Okamoto, T, Baba, T, Konishi, I, Berchuck, A, and Murphy, SK. "Epigenetic determinants of ovarian clear cell carcinoma biology." International Journal of Cancer 135.3 (August 1, 2014): 585-597.
Source
scopus
Published In
International Journal of Cancer
Volume
135
Issue
3
Publish Date
2014
Start Page
585
End Page
597
DOI
10.1002/ijc.28701

Variation in NF-κB signaling pathways and survival in invasive epithelial ovarian cancer.

Survival in epithelial ovarian cancer (EOC) is influenced by the host immune response, yet the key genetic determinants of inflammation and immunity that affect prognosis are not known. The nuclear factor-κB (NF-κB) transcription factor family plays an important role in many immune and inflammatory responses, including the response to cancer. We studied common inherited variation in 210 genes in the NF-κB family in 10,084 patients with invasive EOC (5,248 high-grade serous, 1,452 endometrioid, 795 clear cell, and 661 mucinous) from the Ovarian Cancer Association Consortium. Associations between genotype and overall survival were assessed using Cox regression for all patients and by major histology, adjusting for known prognostic factors and correcting for multiple testing (threshold for statistical significance, P < 2.5 × 10(-5)). Results were statistically significant when assessed for patients of a single histology. Key associations were with caspase recruitment domain family, member 11 (CARD11) rs41324349 in patients with mucinous EOC [HR, 1.82; 95% confidence interval (CI), 1.41-2.35; P = 4.13 × 10(-6)] and tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B) rs7501462 in patients with endometrioid EOC (HR, 0.68; 95% CI, 0.56-0.82; P = 2.33 × 10(-5)). Other associations of note included TNF receptor-associated factor 2 (TRAF2) rs17250239 in patients with high-grade serous EOC (HR, 0.84; 95% CI, 0.77-0.92; P = 6.49 × 10(-5)) and phospholipase C, gamma 1 (PLCG1) rs11696662 in patients with clear cell EOC (HR, 0.43; 95% CI, 0.26-0.73; P = 4.56 × 10(-4)). These associations highlight the potential importance of genes associated with host inflammation and immunity in modulating clinical outcomes in distinct EOC histologies.

Authors
Block, MS; Charbonneau, B; Vierkant, RA; Fogarty, Z; Bamlet, WR; Pharoah, PDP; Georgia Chenevix-Trench, ; for AOCS, ; /ACS Group, ; Rossing, MA; Cramer, D; Pearce, CL; Schildkraut, J; Menon, U; Kjaer, SK; Levine, DA; Gronwald, J; Culver, HA; Whittemore, AS; Karlan, BY; Lambrechts, D; Wentzensen, N; Kupryjanczyk, J; Chang-Claude, J; Bandera, EV; Hogdall, E; Heitz, F; Kaye, SB; Fasching, PA; Campbell, I; Goodman, MT; Pejovic, T; Bean, YT; Hays, LE; Lurie, G; Eccles, D; Hein, A; Beckmann, MW; Ekici, AB; Paul, J; Brown, R; Flanagan, JM; Harter, P; du Bois, A; Schwaab, I; Hogdall, CK; Lundvall, L; Olson, SH; Orlow, I; Paddock, LE; Rudolph, A; Eilber, U; Dansonka-Mieszkowska, A; Rzepecka, IK; Ziolkowska-Seta, I; Brinton, LA; Yang, H; Garcia-Closas, M; Despierre, E; Lambrechts, S; Vergote, I; Walsh, CS; Lester, J; Sieh, W; McGuire, V; Rothstein, JH; Ziogas, A; Lubiński, J; Cybulski, C; Menkiszak, J; Jensen, A; Gayther, SA; Ramus, SJ; Gentry-Maharaj, A; Berchuck, A; Wu, AH; Pike, MC; Van Den Berg, D; Terry, KL; Vitonis, AF; Ramirez, SM; Rider, DN; Knutson, KL; Sellers, TA; Phelan, CM; Doherty, JA; Johnatty, SE; deFazio, A; Song, H; Tyrer, J; Kalli, KR; Fridley, BL; Cunningham, JM; Goode, EL
MLA Citation
Block, MS, Charbonneau, B, Vierkant, RA, Fogarty, Z, Bamlet, WR, Pharoah, PDP, Georgia Chenevix-Trench, , for AOCS, , /ACS Group, , Rossing, MA, Cramer, D, Pearce, CL, Schildkraut, J, Menon, U, Kjaer, SK, Levine, DA, Gronwald, J, Culver, HA, Whittemore, AS, Karlan, BY, Lambrechts, D, Wentzensen, N, Kupryjanczyk, J, Chang-Claude, J, Bandera, EV, Hogdall, E, Heitz, F, Kaye, SB, Fasching, PA, Campbell, I, Goodman, MT, Pejovic, T, Bean, YT, Hays, LE, Lurie, G, Eccles, D, Hein, A, Beckmann, MW, Ekici, AB, Paul, J, Brown, R, Flanagan, JM, Harter, P, du Bois, A, Schwaab, I, Hogdall, CK, Lundvall, L, Olson, SH, Orlow, I, Paddock, LE, Rudolph, A, Eilber, U, Dansonka-Mieszkowska, A, Rzepecka, IK, Ziolkowska-Seta, I, Brinton, LA, Yang, H, Garcia-Closas, M, Despierre, E, Lambrechts, S, Vergote, I, Walsh, CS, Lester, J, Sieh, W, McGuire, V, Rothstein, JH, Ziogas, A, Lubiński, J, Cybulski, C, Menkiszak, J, Jensen, A, Gayther, SA, Ramus, SJ, Gentry-Maharaj, A, Berchuck, A, Wu, AH, Pike, MC, Van Den Berg, D, Terry, KL, Vitonis, AF, Ramirez, SM, Rider, DN, Knutson, KL, Sellers, TA, Phelan, CM, Doherty, JA, Johnatty, SE, deFazio, A, Song, H, Tyrer, J, Kalli, KR, Fridley, BL, Cunningham, JM, and Goode, EL. "Variation in NF-κB signaling pathways and survival in invasive epithelial ovarian cancer." Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology 23.7 (July 2014): 1421-1427.
PMID
24740199
Source
epmc
Published In
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology
Volume
23
Issue
7
Publish Date
2014
Start Page
1421
End Page
1427
DOI
10.1158/1055-9965.EPI-13-0962

ABCA transporter gene expression and poor outcome in epithelial ovarian cancer.

ATP-binding cassette (ABC) transporters play various roles in cancer biology and drug resistance, but their association with outcomes in serous epithelial ovarian cancer (EOC) is unknown.The relationship between clinical outcomes and ABC transporter gene expression in two independent cohorts of high-grade serous EOC tumors was assessed with real-time quantitative polymerase chain reaction, analysis of expression microarray data, and immunohistochemistry. Associations between clinical outcomes and ABCA transporter gene single nucleotide polymorphisms were tested in a genome-wide association study. Impact of short interfering RNA-mediated gene suppression was determined by colony forming and migration assays. Association with survival was assessed with Kaplan-Meier analysis and log-rank tests. All statistical tests were two-sided.Associations with outcome were observed with ABC transporters of the "A" subfamily, but not with multidrug transporters. High-level expression of ABCA1, ABCA6, ABCA8, and ABCA9 in primary tumors was statistically significantly associated with reduced survival in serous ovarian cancer patients. Low levels of ABCA5 and the C-allele of rs536009 were associated with shorter overall survival (hazard ratio for death = 1.50; 95% confidence interval [CI] =1.26 to 1.79; P = 6.5e-6). The combined expression pattern of ABCA1, ABCA5, and either ABCA8 or ABCA9 was associated with particularly poor outcome (mean overall survival in group with adverse ABCA1, ABCA5 and ABCA9 gene expression = 33.2 months, 95% CI = 26.4 to 40.1; vs 55.3 months in the group with favorable ABCA gene expression, 95% CI = 49.8 to 60.8; P = .001), independently of tumor stage or surgical debulking status. Suppression of cholesterol transporter ABCA1 inhibited ovarian cancer cell growth and migration in vitro, and statin treatment reduced ovarian cancer cell migration.Expression of ABCA transporters was associated with poor outcome in serous ovarian cancer, implicating lipid trafficking as a potentially important process in EOC.

Authors
Hedditch, EL; Gao, B; Russell, AJ; Lu, Y; Emmanuel, C; Beesley, J; Johnatty, SE; Chen, X; Harnett, P; George, J; Australian Ovarian Cancer Study Group, ; Williams, RT; Flemming, C; Lambrechts, D; Despierre, E; Lambrechts, S; Vergote, I; Karlan, B; Lester, J; Orsulic, S; Walsh, C; Fasching, P; Beckmann, MW; Ekici, AB; Hein, A; Matsuo, K; Hosono, S; Nakanishi, T; Yatabe, Y; Pejovic, T; Bean, Y; Heitz, F; Harter, P; du Bois, A; Schwaab, I; Hogdall, E; Kjaer, SK; Jensen, A; Hogdall, C; Lundvall, L; Engelholm, SA; Brown, B; Flanagan, J; Metcalf, MD; Siddiqui, N; Sellers, T; Fridley, B; Cunningham, J; Schildkraut, J; Iversen, E; Weber, RP; Berchuck, A; Goode, E; Bowtell, DD; Chenevix-Trench, G; deFazio, A; Norris, MD; MacGregor, S; Haber, M; Henderson, MJ
MLA Citation
Hedditch, EL, Gao, B, Russell, AJ, Lu, Y, Emmanuel, C, Beesley, J, Johnatty, SE, Chen, X, Harnett, P, George, J, Australian Ovarian Cancer Study Group, , Williams, RT, Flemming, C, Lambrechts, D, Despierre, E, Lambrechts, S, Vergote, I, Karlan, B, Lester, J, Orsulic, S, Walsh, C, Fasching, P, Beckmann, MW, Ekici, AB, Hein, A, Matsuo, K, Hosono, S, Nakanishi, T, Yatabe, Y, Pejovic, T, Bean, Y, Heitz, F, Harter, P, du Bois, A, Schwaab, I, Hogdall, E, Kjaer, SK, Jensen, A, Hogdall, C, Lundvall, L, Engelholm, SA, Brown, B, Flanagan, J, Metcalf, MD, Siddiqui, N, Sellers, T, Fridley, B, Cunningham, J, Schildkraut, J, Iversen, E, Weber, RP, Berchuck, A, Goode, E, Bowtell, DD, Chenevix-Trench, G, deFazio, A, Norris, MD, MacGregor, S, Haber, M, and Henderson, MJ. "ABCA transporter gene expression and poor outcome in epithelial ovarian cancer." Journal of the National Cancer Institute 106.7 (July 2014).
PMID
24957074
Source
epmc
Published In
Journal of the National Cancer Institute
Volume
106
Issue
7
Publish Date
2014
DOI
10.1093/jnci/dju149

Relative influence of factors determining a woman's preference for treatment options in ovarian cancer.

Authors
Havrilesky, LJ; Secord, AA; Ehrisman, JA; Berchuck, A; Valea, FA; Lee, PS; Gaillard, S; Celia, D; Weinfurt, K; Abernethy, AP; Reed, SD
MLA Citation
Havrilesky, LJ, Secord, AA, Ehrisman, JA, Berchuck, A, Valea, FA, Lee, PS, Gaillard, S, Celia, D, Weinfurt, K, Abernethy, AP, and Reed, SD. "Relative influence of factors determining a woman's preference for treatment options in ovarian cancer." May 20, 2014.
Source
wos-lite
Published In
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
Volume
32
Issue
15
Publish Date
2014

Relationship between minimally invasive hysterectomy, pelvic cytology, and lymph vascular space invasion: a single institution study of 458 patients.

The aim of this study is to determine whether a minimally invasive approach to hysterectomy is associated with an increased rate of lymph vascular space invasion (LVSI) and/or malignant pelvic peritoneal cytology in endometrial cancer.We performed a single institution analysis of 458 women with endometrial cancer who underwent either total abdominal hysterectomy (TAH) or minimally invasive hysterectomy (MIH) with use of a disposable uterine manipulator. All patients had endometrial cancer diagnosed by endometrial biopsy at a single academic institution between 2002 and 2012. Exclusion criteria were pre-operative D&C and/or hysteroscopy, uterine perforation or morcellation, and conversion to laparotomy. Multivariate logistic regression models to determine if type of hysterectomy predicts either LVSI or presence of abnormal cytology were controlled for grade, stage, depth of invasion, tumor size, cervical and adnexal involvement.LVSI was identified in 39/214 (18%) MIH and 44/242 (18%) TAH (p=0.99). Pelvic washings were malignant in 14/203 (7%) MIH and 16/241 (7%) TAH (p=1.0). Washings were atypical or inconclusive in 16/203 (8%) MIH and 6/241 (2.5%) TAH (p=0.014). In multivariate analyses, type of hysterectomy was not a significant predictor of either LVSI (p=0.29) or presence of malignant washings (p=0.66), but was a predictor of atypical or inconclusive washings (p=0.03).Minimally invasive hysterectomy with use of a uterine manipulator for endometrial cancer is not associated with LVSI or malignant cytology. Algorithms that better determine the etiology and implications of inconclusive or atypical pelvic cytology are needed to inform the possible additional risk associated with a minimally invasive approach to endometrial cancer.

Authors
Zhang, C; Havrilesky, LJ; Broadwater, G; Di Santo, N; Ehrisman, JA; Lee, PS; Berchuck, A; Alvarez Secord, A; Bean, S; Bentley, RC; Valea, FA
MLA Citation
Zhang, C, Havrilesky, LJ, Broadwater, G, Di Santo, N, Ehrisman, JA, Lee, PS, Berchuck, A, Alvarez Secord, A, Bean, S, Bentley, RC, and Valea, FA. "Relationship between minimally invasive hysterectomy, pelvic cytology, and lymph vascular space invasion: a single institution study of 458 patients." Gynecologic oncology 133.2 (May 2014): 211-215.
PMID
24582867
Source
epmc
Published In
Gynecologic Oncology
Volume
133
Issue
2
Publish Date
2014
Start Page
211
End Page
215
DOI
10.1016/j.ygyno.2014.02.025

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.

Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is the most common undifferentiated ovarian malignancy in women under 40 years of age. We sequenced the exomes of six individuals from three families with SCCOHT. After discovering segregating deleterious germline mutations in SMARCA4 in all three families, we tested DNA from a fourth affected family, which also carried a segregating SMARCA4 germline mutation. All the familial tumors sequenced harbored either a somatic mutation or loss of the wild-type allele. Immunohistochemical analysis of these cases and additional familial and non-familial cases showed loss of SMARCA4 (BRG1) protein in 38 of 40 tumors overall. Sequencing of cases with available DNA identified at least one germline or somatic deleterious SMARCA4 mutation in 30 of 32 cases. Additionally, the SCCOHT cell line BIN-67 had biallelic deleterious mutations in SMARCA4. Our findings identify alterations in SMARCA4 as the major cause of SCCOHT, which could lead to improvements in genetic counseling and new treatment approaches.

Authors
Witkowski, L; Carrot-Zhang, J; Albrecht, S; Fahiminiya, S; Hamel, N; Tomiak, E; Grynspan, D; Saloustros, E; Nadaf, J; Rivera, B; Gilpin, C; Castellsagué, E; Silva-Smith, R; Plourde, F; Wu, M; Saskin, A; Arseneault, M; Karabakhtsian, RG; Reilly, EA; Ueland, FR; Margiolaki, A; Pavlakis, K; Castellino, SM; Lamovec, J; Mackay, HJ; Roth, LM; Ulbright, TM; Bender, TA; Georgoulias, V; Longy, M; Berchuck, A; Tischkowitz, M; Nagel, I; Siebert, R; Stewart, CJR; Arseneau, J; McCluggage, WG; Clarke, BA; Riazalhosseini, Y; Hasselblatt, M; Majewski, J; Foulkes, WD
MLA Citation
Witkowski, L, Carrot-Zhang, J, Albrecht, S, Fahiminiya, S, Hamel, N, Tomiak, E, Grynspan, D, Saloustros, E, Nadaf, J, Rivera, B, Gilpin, C, Castellsagué, E, Silva-Smith, R, Plourde, F, Wu, M, Saskin, A, Arseneault, M, Karabakhtsian, RG, Reilly, EA, Ueland, FR, Margiolaki, A, Pavlakis, K, Castellino, SM, Lamovec, J, Mackay, HJ, Roth, LM, Ulbright, TM, Bender, TA, Georgoulias, V, Longy, M, Berchuck, A, Tischkowitz, M, Nagel, I, Siebert, R, Stewart, CJR, Arseneau, J, McCluggage, WG, Clarke, BA, Riazalhosseini, Y, Hasselblatt, M, Majewski, J, and Foulkes, WD. "Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type." Nature Genetics 46.5 (May 2014): 438-443.
PMID
24658002
Source
epmc
Published In
Nature Genetics
Volume
46
Issue
5
Publish Date
2014
Start Page
438
End Page
443
DOI
10.1038/ng.2931

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

Authors
Witkowski, L; Carrot-Zhang, J; Albrecht, S; Fahiminiya, S; Hamel, N; Tomiak, E; Grynspan, D; Saloustros, E; Nadaf, J; Rivera, B; Gilpin, C; Castellsagué, E; Silva-Smith, R; Plourde, F; Wu, M; Saskin, A; Arseneault, M; Karabakhtsian, RG; Reilly, EA; Ueland, FR; Margiolaki, A; Pavlakis, K; Castellino, SM; Lamovec, J; Mackay, HJ; Roth, LM; Ulbright, TM; Bender, TA; Georgoulias, V; Longy, M; Berchuck, A; Tischkowitz, M; Nagel, I; Siebert, R; Stewart, CJR; Arseneau, J; McCluggage, WG; Clarke, BA; Riazalhosseini, Y; Hasselblatt, M; Majewski, J; Foulkes, WD
MLA Citation
Witkowski, L, Carrot-Zhang, J, Albrecht, S, Fahiminiya, S, Hamel, N, Tomiak, E, Grynspan, D, Saloustros, E, Nadaf, J, Rivera, B, Gilpin, C, Castellsagué, E, Silva-Smith, R, Plourde, F, Wu, M, Saskin, A, Arseneault, M, Karabakhtsian, RG, Reilly, EA, Ueland, FR, Margiolaki, A, Pavlakis, K, Castellino, SM, Lamovec, J, Mackay, HJ, Roth, LM, Ulbright, TM, Bender, TA, Georgoulias, V, Longy, M, Berchuck, A, Tischkowitz, M, Nagel, I, Siebert, R, Stewart, CJR, Arseneau, J, McCluggage, WG, Clarke, BA, Riazalhosseini, Y, Hasselblatt, M, Majewski, J, and Foulkes, WD. "Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type." Nature Genetics 46.5 (May 2014): 438-443.
Source
crossref
Published In
Nature Genetics
Volume
46
Issue
5
Publish Date
2014
Start Page
438
End Page
443
DOI
10.1038/ng.2931

Relationship between minimally invasive hysterectomy, pelvic cytology, and lymph vascular space invasion: A single institution study of 458 patients

Authors
Zhang, C; Havrilesky, LJ; Broadwater, G; Di Santo, N; Ehrisman, JA; Lee, PS; Berchuck, A; Alvarez Secord, A; Bean, S; Bentley, RC; Valea, FA
MLA Citation
Zhang, C, Havrilesky, LJ, Broadwater, G, Di Santo, N, Ehrisman, JA, Lee, PS, Berchuck, A, Alvarez Secord, A, Bean, S, Bentley, RC, and Valea, FA. "Relationship between minimally invasive hysterectomy, pelvic cytology, and lymph vascular space invasion: A single institution study of 458 patients." Gynecologic Oncology 133.2 (May 2014): 211-215.
Source
crossref
Published In
Gynecologic Oncology
Volume
133
Issue
2
Publish Date
2014
Start Page
211
End Page
215
DOI
10.1016/j.ygyno.2014.02.025

Relative Influence of Factors Determining a Woman’s Preference for Treatment Options in Ovarian Cancer: A Discrete Choice Experiment

Authors
Havrilesky, L; Secord, A; Ehrisman, J; Berchuck, A; Valea, F; Lee, P; Cella, D; Weinfurt, K; Abernethy, A; Reed, S
MLA Citation
Havrilesky, L, Secord, A, Ehrisman, J, Berchuck, A, Valea, F, Lee, P, Cella, D, Weinfurt, K, Abernethy, A, and Reed, S. "Relative Influence of Factors Determining a Woman’s Preference for Treatment Options in Ovarian Cancer: A Discrete Choice Experiment." May 2014.
Source
crossref
Published In
Value in Health
Volume
17
Issue
3
Publish Date
2014
Start Page
A93
End Page
A93
DOI
10.1016/j.jval.2014.03.539

Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA.

Epithelial ovarian cancer (EOC) is a heterogeneous cancer with both genetic and environmental risk factors. Variants influencing the risk of developing the less-common EOC subtypes have not been fully investigated. We performed a genome-wide association study (GWAS) of EOC according to subtype by pooling genomic DNA from 545 cases and 398 controls of European descent, and testing for allelic associations. We evaluated for replication 188 variants from the GWAS [56 variants for mucinous, 55 for endometrioid and clear cell, 53 for low-malignant potential (LMP) serous, and 24 for invasive serous EOC], selected using pre-defined criteria. Genotypes from 13,188 cases and 23,164 controls of European descent were used to perform unconditional logistic regression under the log-additive genetic model; odds ratios (OR) and 95 % confidence intervals are reported. Nine variants tagging six loci were associated with subtype-specific EOC risk at P < 0.05, and had an OR that agreed in direction of effect with the GWAS results. Several of these variants are in or near genes with a biological rationale for conferring EOC risk, including ZFP36L1 and RAD51B for mucinous EOC (rs17106154, OR = 1.17, P = 0.029, n = 1,483 cases), GRB10 for endometrioid and clear cell EOC (rs2190503, P = 0.014, n = 2,903 cases), and C22orf26/BPIL2 for LMP serous EOC (rs9609538, OR = 0.86, P = 0.0043, n = 892 cases). In analyses that included the 75 GWAS samples, the association between rs9609538 (OR = 0.84, P = 0.0007) and LMP serous EOC risk remained statistically significant at P < 0.0012 adjusted for multiple testing. Replication in additional samples will be important to verify these results for the less-common EOC subtypes.

Authors
Earp, MA; Kelemen, LE; Magliocco, AM; Swenerton, KD; Chenevix-Trench, G; Australian Cancer Study, ; Australian Ovarian Cancer Study Group, ; Lu, Y; Hein, A; Ekici, AB; Beckmann, MW; Fasching, PA; Lambrechts, D; Despierre, E; Vergote, I; Lambrechts, S; Doherty, JA; Rossing, MA; Chang-Claude, J; Rudolph, A; Friel, G; Moysich, KB; Odunsi, K; Sucheston-Campbell, L; Lurie, G; Goodman, MT; Carney, ME; Thompson, PJ; Runnebaum, IB; Dürst, M; Hillemanns, P; Dörk, T; Antonenkova, N; Bogdanova, N; Leminen, A; Nevanlinna, H; Pelttari, LM; Butzow, R; Bunker, CH; Modugno, F; Edwards, RP; Ness, RB; du Bois, A; Heitz, F; Schwaab, I; Harter, P; Karlan, BY; Walsh, C; Lester, J; Jensen, A; Kjær, SK; Høgdall, CK; Høgdall, E; Lundvall, L; Sellers, TA; Fridley, BL; Goode, EL; Cunningham, JM; Vierkant, RA; Giles, GG; Baglietto, L; Severi, G; Southey, MC; Liang, D; Wu, X; Lu, K; Hildebrandt, MAT; Levine, DA; Bisogna, M; Schildkraut, JM; Iversen, ES; Weber, RP; Berchuck, A; Cramer, DW; Terry, KL; Poole, EM; Tworoger, SS; Bandera, EV; Chandran, U; Orlow, I; Olson, SH; Wik, E; Salvesen, HB; Bjorge, L; Halle, MK; van Altena, AM; Aben, KKH; Kiemeney, LA; Massuger, LFAG; Pejovic, T; Bean, YT; Cybulski, C; Gronwald, J; Lubinski, J; Wentzensen, N; Brinton, LA; Lissowska, J; Garcia-Closas, M; Dicks, E; Dennis, J; Easton, DF; Song, H; Tyrer, JP; Pharoah, PDP; Eccles, D; Campbell, IG; Whittemore, AS; McGuire, V; Sieh, W; Rothstein, JH; Flanagan, JM; Paul, J; Brown, R; Phelan, CM; Risch, HA; McLaughlin, JR; Narod, SA; Ziogas, A; Anton-Culver, H; Gentry-Maharaj, A; Menon, U; Gayther, SA; Ramus, SJ; Wu, AH; Pearce, CL; Pike, MC; Dansonka-Mieszkowska, A; Rzepecka, IK; Szafron, LM; Kupryjanczyk, J; Cook, LS; Le, ND; Brooks-Wilson, A; Ovarian Cancer Association Consortium,
MLA Citation
Earp, MA, Kelemen, LE, Magliocco, AM, Swenerton, KD, Chenevix-Trench, G, Australian Cancer Study, , Australian Ovarian Cancer Study Group, , Lu, Y, Hein, A, Ekici, AB, Beckmann, MW, Fasching, PA, Lambrechts, D, Despierre, E, Vergote, I, Lambrechts, S, Doherty, JA, Rossing, MA, Chang-Claude, J, Rudolph, A, Friel, G, Moysich, KB, Odunsi, K, Sucheston-Campbell, L, Lurie, G, Goodman, MT, Carney, ME, Thompson, PJ, Runnebaum, IB, Dürst, M, Hillemanns, P, Dörk, T, Antonenkova, N, Bogdanova, N, Leminen, A, Nevanlinna, H, Pelttari, LM, Butzow, R, Bunker, CH, Modugno, F, Edwards, RP, Ness, RB, du Bois, A, Heitz, F, Schwaab, I, Harter, P, Karlan, BY, Walsh, C, Lester, J, Jensen, A, Kjær, SK, Høgdall, CK, Høgdall, E, Lundvall, L, Sellers, TA, Fridley, BL, Goode, EL, Cunningham, JM, Vierkant, RA, Giles, GG, Baglietto, L, Severi, G, Southey, MC, Liang, D, Wu, X, Lu, K, Hildebrandt, MAT, Levine, DA, Bisogna, M, Schildkraut, JM, Iversen, ES, Weber, RP, Berchuck, A, Cramer, DW, Terry, KL, Poole, EM, Tworoger, SS, Bandera, EV, Chandran, U, Orlow, I, Olson, SH, Wik, E, Salvesen, HB, Bjorge, L, Halle, MK, van Altena, AM, Aben, KKH, Kiemeney, LA, Massuger, LFAG, Pejovic, T, Bean, YT, Cybulski, C, Gronwald, J, Lubinski, J, Wentzensen, N, Brinton, LA, Lissowska, J, Garcia-Closas, M, Dicks, E, Dennis, J, Easton, DF, Song, H, Tyrer, JP, Pharoah, PDP, Eccles, D, Campbell, IG, Whittemore, AS, McGuire, V, Sieh, W, Rothstein, JH, Flanagan, JM, Paul, J, Brown, R, Phelan, CM, Risch, HA, McLaughlin, JR, Narod, SA, Ziogas, A, Anton-Culver, H, Gentry-Maharaj, A, Menon, U, Gayther, SA, Ramus, SJ, Wu, AH, Pearce, CL, Pike, MC, Dansonka-Mieszkowska, A, Rzepecka, IK, Szafron, LM, Kupryjanczyk, J, Cook, LS, Le, ND, Brooks-Wilson, A, and Ovarian Cancer Association Consortium, . "Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA." Human Genetics 133.5 (May 2014): 481-497.
PMID
24190013
Source
epmc
Published In
Human Genetics
Volume
133
Issue
5
Publish Date
2014
Start Page
481
End Page
497
DOI
10.1007/s00439-013-1383-3

Large-scale evaluation of common variation in regulatory T cell-related genes and ovarian cancer outcome.

The presence of regulatory T cells (Treg) in solid tumors is known to play a role in patient survival in ovarian cancer and other malignancies. We assessed inherited genetic variations via 749 tag single-nucleotide polymorphisms (SNP) in 25 Treg-associated genes (CD28, CTLA4, FOXP3, IDO1, IL10, IL10RA, IL15, 1L17RA, IL23A, IL23R, IL2RA, IL6, IL6R, IL8, LGALS1, LGALS9, MAP3K8, STAT5A, STAT5B, TGFB1, TGFB2, TGFB3, TGFBR1, TGRBR2, and TGFBR3) in relation to ovarian cancer survival. We analyzed genotype and overall survival in 10,084 women with invasive epithelial ovarian cancer, including 5,248 high-grade serous, 1,452 endometrioid, 795 clear cell, and 661 mucinous carcinoma cases of European descent across 28 studies from the Ovarian Cancer Association Consortium (OCAC). The strongest associations were found for endometrioid carcinoma and IL2RA SNPs rs11256497 [HR, 1.42; 95% confidence interval (CI), 1.22-1.64; P = 5.7 × 10(-6)], rs791587 (HR, 1.36; 95% CI, 1.17-1.57; P = 6.2 × 10(-5)), rs2476491 (HR, = 1.40; 95% CI, 1.19-1.64; P = 5.6 × 10(-5)), and rs10795763 (HR, 1.35; 95% CI, 1.17-1.57; P = 7.9 × 10(-5)), and for clear cell carcinoma and CTLA4 SNP rs231775 (HR, 0.67; 95% CI, 0.54-0.82; P = 9.3 × 10(-5)) after adjustment for age, study site, population stratification, stage, grade, and oral contraceptive use. The rs231775 allele associated with improved survival in our study also results in an amino acid change in CTLA4 and previously has been reported to be associated with autoimmune conditions. Thus, we found evidence that SNPs in genes related to Tregs seem to play a role in ovarian cancer survival, particularly in patients with clear cell and endometrioid epithelial ovarian cancer.

Authors
Charbonneau, B; Moysich, KB; Kalli, KR; Oberg, AL; Vierkant, RA; Fogarty, ZC; Block, MS; Maurer, MJ; Goergen, KM; Fridley, BL; Cunningham, JM; Rider, DN; Preston, C; Hartmann, LC; Lawrenson, K; Wang, C; Tyrer, J; Song, H; deFazio, A; Johnatty, SE; Doherty, JA; Phelan, CM; Sellers, TA; Ramirez, SM; Vitonis, AF; Terry, KL; Van Den Berg, D; Pike, MC; Wu, AH; Berchuck, A; Gentry-Maharaj, A; Ramus, SJ; Diergaarde, B; Shen, H; Jensen, A; Menkiszak, J; Cybulski, C; Lubiłski, J; Ziogas, A; Rothstein, JH; McGuire, V; Sieh, W; Lester, J; Walsh, C; Vergote, I; Lambrechts, S; Despierre, E; Garcia-Closas, M; Yang, H; Brinton, LA; Spiewankiewicz, B; Rzepecka, IK; Dansonka-Mieszkowska, A; Seibold, P; Rudolph, A; Paddock, LE; Orlow, I; Lundvall, L; Olson, SH; Hogdall, CK; Schwaab, I; du Bois, A; Harter, P; Flanagan, JM; Brown, R; Paul, J; Ekici, AB; Beckmann, MW; Hein, A; Eccles, D; Lurie, G; Hays, LE; Bean, YT; Pejovic, T; Goodman, MT; Campbell, I; Fasching, PA; Konecny, G; Kaye, SB; Heitz, F; Hogdall, E; Bandera, EV; Chang-Claude, J; Kupryjanczyk, J; Wentzensen, N; Lambrechts, D; Karlan, BY; Whittemore, AS; Culver, HA; Gronwald, J; Levine, DA; Kjaer, SK; Menon, U; Schildkraut, JM; Pearce, CL; Cramer, DW; Rossing, MA; Chenevix-Trench, G; AOCS group, ; ACS, ; Pharoah, PDP; Gayther, SA; Ness, RB; Odunsi, K; Sucheston, LE; Knutson, KL; Goode, EL
MLA Citation
Charbonneau, B, Moysich, KB, Kalli, KR, Oberg, AL, Vierkant, RA, Fogarty, ZC, Block, MS, Maurer, MJ, Goergen, KM, Fridley, BL, Cunningham, JM, Rider, DN, Preston, C, Hartmann, LC, Lawrenson, K, Wang, C, Tyrer, J, Song, H, deFazio, A, Johnatty, SE, Doherty, JA, Phelan, CM, Sellers, TA, Ramirez, SM, Vitonis, AF, Terry, KL, Van Den Berg, D, Pike, MC, Wu, AH, Berchuck, A, Gentry-Maharaj, A, Ramus, SJ, Diergaarde, B, Shen, H, Jensen, A, Menkiszak, J, Cybulski, C, Lubiłski, J, Ziogas, A, Rothstein, JH, McGuire, V, Sieh, W, Lester, J, Walsh, C, Vergote, I, Lambrechts, S, Despierre, E, Garcia-Closas, M, Yang, H, Brinton, LA, Spiewankiewicz, B, Rzepecka, IK, Dansonka-Mieszkowska, A, Seibold, P, Rudolph, A, Paddock, LE, Orlow, I, Lundvall, L, Olson, SH, Hogdall, CK, Schwaab, I, du Bois, A, Harter, P, Flanagan, JM, Brown, R, Paul, J, Ekici, AB, Beckmann, MW, Hein, A, Eccles, D, Lurie, G, Hays, LE, Bean, YT, Pejovic, T, Goodman, MT, Campbell, I, Fasching, PA, Konecny, G, Kaye, SB, Heitz, F, Hogdall, E, Bandera, EV, Chang-Claude, J, Kupryjanczyk, J, Wentzensen, N, Lambrechts, D, Karlan, BY, Whittemore, AS, Culver, HA, Gronwald, J, Levine, DA, Kjaer, SK, Menon, U, Schildkraut, JM, Pearce, CL, Cramer, DW, Rossing, MA, Chenevix-Trench, G, AOCS group, , ACS, , Pharoah, PDP, Gayther, SA, Ness, RB, Odunsi, K, Sucheston, LE, Knutson, KL, and Goode, EL. "Large-scale evaluation of common variation in regulatory T cell-related genes and ovarian cancer outcome." Cancer Immunology Research 2.4 (April 2014): 332-340.
PMID
24764580
Source
epmc
Published In
Cancer Immunology Research
Volume
2
Issue
4
Publish Date
2014
Start Page
332
End Page
340
DOI
10.1158/2326-6066.CIR-13-0136

Risk of ovarian cancer and the NF-κB pathway: genetic association with IL1A and TNFSF10.

A missense single-nucleotide polymorphism (SNP) in the immune modulatory gene IL1A has been associated with ovarian cancer risk (rs17561). Although the exact mechanism through which this SNP alters risk of ovarian cancer is not clearly understood, rs17561 has also been associated with risk of endometriosis, an epidemiologic risk factor for ovarian cancer. Interleukin-1α (IL1A) is both regulated by and able to activate NF-κB, a transcription factor family that induces transcription of many proinflammatory genes and may be an important mediator in carcinogenesis. We therefore tagged SNPs in more than 200 genes in the NF-κB pathway for a total of 2,282 SNPs (including rs17561) for genotype analysis of 15,604 cases of ovarian cancer in patients of European descent, including 6,179 of high-grade serous (HGS), 2,100 endometrioid, 1,591 mucinous, 1,034 clear cell, and 1,016 low-grade serous, including 23,235 control cases spanning 40 studies in the Ovarian Cancer Association Consortium. In this large population, we confirmed the association between rs17561 and clear cell ovarian cancer [OR, 0.84; 95% confidence interval (CI), 0.76-0.93; P = 0.00075], which remained intact even after excluding participants in the prior study (OR, 0.85; 95% CI, 0.75-0.95; P = 0.006). Considering a multiple-testing-corrected significance threshold of P < 2.5 × 10(-5), only one other variant, the TNFSF10 SNP rs6785617, was associated significantly with a risk of ovarian cancer (low malignant potential tumors OR, 0.85; 95% CI, 0.79-0.91; P = 0.00002). Our results extend the evidence that borderline tumors may have a distinct genetic etiology. Further investigation of how these SNPs might modify ovarian cancer associations with other inflammation-related risk factors is warranted.

Authors
Charbonneau, B; Block, MS; Bamlet, WR; Vierkant, RA; Kalli, KR; Fogarty, Z; Rider, DN; Sellers, TA; Tworoger, SS; Poole, E; Risch, HA; Salvesen, HB; Kiemeney, LA; Baglietto, L; Giles, GG; Severi, G; Trabert, B; Wentzensen, N; Chenevix-Trench, G; for AOCS/ACS group, ; Whittemore, AS; Sieh, W; Chang-Claude, J; Bandera, EV; Orlow, I; Terry, K; Goodman, MT; Thompson, PJ; Cook, LS; Rossing, MA; Ness, RB; Narod, SA; Kupryjanczyk, J; Lu, K; Butzow, R; Dörk, T; Pejovic, T; Campbell, I; Le, ND; Bunker, CH; Bogdanova, N; Runnebaum, IB; Eccles, D; Paul, J; Wu, AH; Gayther, SA; Hogdall, E; Heitz, F; Kaye, SB; Karlan, BY; Anton-Culver, H; Gronwald, J; Hogdall, CK; Lambrechts, D; Fasching, PA; Menon, U; Schildkraut, J; Pearce, CL; Levine, DA; Kjaer, SK; Cramer, D; Flanagan, JM; Phelan, CM; Brown, R; Massuger, LFAG; Song, H; Doherty, JA; Krakstad, C; Liang, D; Odunsi, K; Berchuck, A; Jensen, A; Lubinski, J; Nevanlinna, H; Bean, YT; Lurie, G; Ziogas, A; Walsh, C; Despierre, E; Brinton, L; Hein, A; Rudolph, A; Dansonka-Mieszkowska, A; Olson, SH; Harter, P; Tyrer, J; Vitonis, AF; Brooks-Wilson, A; Aben, KK; Pike, MC; Ramus, SJ; Wik, E; Cybulski, C; Lin, J; Sucheston, L; Edwards, R; McGuire, V; Lester, J; du Bois, A; Lundvall, L; Wang-Gohrke, S; Szafron, LM; Lambrechts, S; Yang, H; Beckmann, MW; Pelttari, LM; Van Altena, AM; van den Berg, D; Halle, MK; Gentry-Maharaj, A; Schwaab, I; Chandran, U; Menkiszak, J; Ekici, AB; Wilkens, LR; Leminen, A; Modugno, F; Friel, G; Rothstein, JH; Vergote, I; Garcia-Closas, M; Hildebrandt, MAT; Sobiczewski, P; Kelemen, LE; Pharoah, PDP; Moysich, K; Knutson, KL; Cunningham, JM; Fridley, BL; Goode, EL
MLA Citation
Charbonneau, B, Block, MS, Bamlet, WR, Vierkant, RA, Kalli, KR, Fogarty, Z, Rider, DN, Sellers, TA, Tworoger, SS, Poole, E, Risch, HA, Salvesen, HB, Kiemeney, LA, Baglietto, L, Giles, GG, Severi, G, Trabert, B, Wentzensen, N, Chenevix-Trench, G, for AOCS/ACS group, , Whittemore, AS, Sieh, W, Chang-Claude, J, Bandera, EV, Orlow, I, Terry, K, Goodman, MT, Thompson, PJ, Cook, LS, Rossing, MA, Ness, RB, Narod, SA, Kupryjanczyk, J, Lu, K, Butzow, R, Dörk, T, Pejovic, T, Campbell, I, Le, ND, Bunker, CH, Bogdanova, N, Runnebaum, IB, Eccles, D, Paul, J, Wu, AH, Gayther, SA, Hogdall, E, Heitz, F, Kaye, SB, Karlan, BY, Anton-Culver, H, Gronwald, J, Hogdall, CK, Lambrechts, D, Fasching, PA, Menon, U, Schildkraut, J, Pearce, CL, Levine, DA, Kjaer, SK, Cramer, D, Flanagan, JM, Phelan, CM, Brown, R, Massuger, LFAG, Song, H, Doherty, JA, Krakstad, C, Liang, D, Odunsi, K, Berchuck, A, Jensen, A, Lubinski, J, Nevanlinna, H, Bean, YT, Lurie, G, Ziogas, A, Walsh, C, Despierre, E, Brinton, L, Hein, A, Rudolph, A, Dansonka-Mieszkowska, A, Olson, SH, Harter, P, Tyrer, J, Vitonis, AF, Brooks-Wilson, A, Aben, KK, Pike, MC, Ramus, SJ, Wik, E, Cybulski, C, Lin, J, Sucheston, L, Edwards, R, McGuire, V, Lester, J, du Bois, A, Lundvall, L, Wang-Gohrke, S, Szafron, LM, Lambrechts, S, Yang, H, Beckmann, MW, Pelttari, LM, Van Altena, AM, van den Berg, D, Halle, MK, Gentry-Maharaj, A, Schwaab, I, Chandran, U, Menkiszak, J, Ekici, AB, Wilkens, LR, Leminen, A, Modugno, F, Friel, G, Rothstein, JH, Vergote, I, Garcia-Closas, M, Hildebrandt, MAT, Sobiczewski, P, Kelemen, LE, Pharoah, PDP, Moysich, K, Knutson, KL, Cunningham, JM, Fridley, BL, and Goode, EL. "Risk of ovarian cancer and the NF-κB pathway: genetic association with IL1A and TNFSF10." Cancer Research 74.3 (February 2014): 852-861.
PMID
24272484
Source
epmc
Published In
Cancer Research
Volume
74
Issue
3
Publish Date
2014
Start Page
852
End Page
861
DOI
10.1158/0008-5472.CAN-13-1051

Aspirin, nonaspirin nonsteroidal anti-inflammatory drug, and acetaminophen use and risk of invasive epithelial ovarian cancer: a pooled analysis in the Ovarian Cancer Association Consortium.

Regular aspirin use is associated with reduced risk of several malignancies. Epidemiologic studies analyzing aspirin, nonaspirin nonsteroidal anti-inflammatory drug (NSAID), and acetaminophen use and ovarian cancer risk have been inconclusive.We analyzed pooled data from 12 population-based case-control studies of ovarian cancer, including 7776 case patients and 11843 control subjects accrued between 1992 and 2007. Odds ratios (ORs) for associations of medication use with invasive epithelial ovarian cancer were estimated in individual studies using logistic regression and combined using random effects meta-analysis. Associations between frequency, dose, and duration of analgesic use and risk of ovarian cancer were also assessed. All statistical tests were two-sided.Aspirin use was associated with a reduced risk of ovarian cancer (OR = 0.91; 95% confidence interval [CI] = 0.84 to 0.99). Results were similar but not statistically significant for nonaspirin NSAIDs, and there was no association with acetaminophen. In seven studies with frequency data, the reduced risk was strongest among daily aspirin users (OR = 0.80; 95% CI = 0.67 to 0.96). In three studies with dose information, the reduced risk was strongest among users of low dose (<100 mg) aspirin (OR = 0.66; 95% CI = 0.53 to 0.83), whereas for nonaspirin NSAIDs, the reduced risk was strongest for high dose (≥500 mg) usage (OR = 0.76; 95% CI = 0.64 to 0.91).Aspirin use was associated with a reduced risk of ovarian cancer, especially among daily users of low-dose aspirin. These findings suggest that the same aspirin regimen proven to protect against cardiovascular events and several cancers could reduce the risk of ovarian cancer 20% to 34% depending on frequency and dose of use.

Authors
Trabert, B; Ness, RB; Lo-Ciganic, W-H; Murphy, MA; Goode, EL; Poole, EM; Brinton, LA; Webb, PM; Nagle, CM; Jordan, SJ; Australian Ovarian Cancer Study Group, Australian Cancer Study (Ovarian Cancer), ; Risch, HA; Rossing, MA; Doherty, JA; Goodman, MT; Lurie, G; Kjær, SK; Hogdall, E; Jensen, A; Cramer, DW; Terry, KL; Vitonis, A; Bandera, EV; Olson, S; King, MG; Chandran, U; Anton-Culver, H; Ziogas, A; Menon, U; Gayther, SA; Ramus, SJ; Gentry-Maharaj, A; Wu, AH; Pearce, CL; Pike, MC; Berchuck, A; Schildkraut, JM; Wentzensen, N; Ovarian Cancer Association Consortium,
MLA Citation
Trabert, B, Ness, RB, Lo-Ciganic, W-H, Murphy, MA, Goode, EL, Poole, EM, Brinton, LA, Webb, PM, Nagle, CM, Jordan, SJ, Australian Ovarian Cancer Study Group, Australian Cancer Study (Ovarian Cancer), , Risch, HA, Rossing, MA, Doherty, JA, Goodman, MT, Lurie, G, Kjær, SK, Hogdall, E, Jensen, A, Cramer, DW, Terry, KL, Vitonis, A, Bandera, EV, Olson, S, King, MG, Chandran, U, Anton-Culver, H, Ziogas, A, Menon, U, Gayther, SA, Ramus, SJ, Gentry-Maharaj, A, Wu, AH, Pearce, CL, Pike, MC, Berchuck, A, Schildkraut, JM, Wentzensen, N, and Ovarian Cancer Association Consortium, . "Aspirin, nonaspirin nonsteroidal anti-inflammatory drug, and acetaminophen use and risk of invasive epithelial ovarian cancer: a pooled analysis in the Ovarian Cancer Association Consortium." Journal of the National Cancer Institute 106.2 (February 2014): djt431-null.
PMID
24503200
Source
epmc
Published In
Journal of the National Cancer Institute
Volume
106
Issue
2
Publish Date
2014
Start Page
djt431
DOI
10.1093/jnci/djt431

Aspirin, nonaspirin nonsteroidal anti-inflammatory drug, and acetaminophen use and risk of invasive epithelial ovarian cancer: a pooled analysis in the Ovarian Cancer Association Consortium.

Regular aspirin use is associated with reduced risk of several malignancies. Epidemiologic studies analyzing aspirin, nonaspirin nonsteroidal anti-inflammatory drug (NSAID), and acetaminophen use and ovarian cancer risk have been inconclusive. We analyzed pooled data from 12 population-based case-control studies of ovarian cancer, including 7776 case patients and 11843 control subjects accrued between 1992 and 2007. Odds ratios (ORs) for associations of medication use with invasive epithelial ovarian cancer were estimated in individual studies using logistic regression and combined using random effects meta-analysis. Associations between frequency, dose, and duration of analgesic use and risk of ovarian cancer were also assessed. All statistical tests were two-sided. Aspirin use was associated with a reduced risk of ovarian cancer (OR = 0.91; 95% confidence interval [CI] = 0.84 to 0.99). Results were similar but not statistically significant for nonaspirin NSAIDs, and there was no association with acetaminophen. In seven studies with frequency data, the reduced risk was strongest among daily aspirin users (OR = 0.80; 95% CI = 0.67 to 0.96). In three studies with dose information, the reduced risk was strongest among users of low dose (<100 mg) aspirin (OR = 0.66; 95% CI = 0.53 to 0.83), whereas for nonaspirin NSAIDs, the reduced risk was strongest for high dose (≥500 mg) usage (OR = 0.76; 95% CI = 0.64 to 0.91). Aspirin use was associated with a reduced risk of ovarian cancer, especially among daily users of low-dose aspirin. These findings suggest that the same aspirin regimen proven to protect against cardiovascular events and several cancers could reduce the risk of ovarian cancer 20% to 34% depending on frequency and dose of use.

Authors
Trabert, B; Ness, RB; Lo-Ciganic, WH; Murphy, MA; Goode, EL; Poole, EM; Brinton, LA; Webb, PM; Nagle, CM; Jordan, SJ; Australian Ovarian Cancer Study Group, ACSOC; Risch, HA; Rossing, MA; Doherty, JA; Goodman, MT; Lurie, G; Kjær, SK; Hogdall, E; Jensen, A; Cramer, DW; Terry, KL; Vitonis, A; Bandera, EV; Olson, S; King, MG; Chandran, U; Anton-Culver, H; Ziogas, A; Menon, U; Gayther, SA; Ramus, SJ; Gentry-Maharaj, A; Wu, AH; Pearce, CL; Pike, MC; Berchuck, A; Schildkraut, JM; Wentzensen, N et al.
MLA Citation
Trabert, B, Ness, RB, Lo-Ciganic, WH, Murphy, MA, Goode, EL, Poole, EM, Brinton, LA, Webb, PM, Nagle, CM, Jordan, SJ, Australian Ovarian Cancer Study Group, ACSOC, Risch, HA, Rossing, MA, Doherty, JA, Goodman, MT, Lurie, G, Kjær, SK, Hogdall, E, Jensen, A, Cramer, DW, Terry, KL, Vitonis, A, Bandera, EV, Olson, S, King, MG, Chandran, U, Anton-Culver, H, Ziogas, A, Menon, U, Gayther, SA, Ramus, SJ, Gentry-Maharaj, A, Wu, AH, Pearce, CL, Pike, MC, Berchuck, A, Schildkraut, JM, and Wentzensen, N et al. "Aspirin, nonaspirin nonsteroidal anti-inflammatory drug, and acetaminophen use and risk of invasive epithelial ovarian cancer: a pooled analysis in the Ovarian Cancer Association Consortium." Journal of the National Cancer Institute 106.2 (January 1, 2014).
Source
scopus
Published In
Journal of the National Cancer Institute
Volume
106
Issue
2
Publish Date
2014
DOI
10.1093/jnci/djt431

Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA

Epithelial ovarian cancer (EOC) is a heterogeneous cancer with both genetic and environmental risk factors. Variants influencing the risk of developing the less-common EOC subtypes have not been fully investigated. We performed a genome-wide association study (GWAS) of EOC according to subtype by pooling genomic DNA from 545 cases and 398 controls of European descent, and testing for allelic associations. We evaluated for replication 188 variants from the GWAS [56 variants for mucinous, 55 for endometrioid and clear cell, 53 for low-malignant potential (LMP) serous, and 24 for invasive serous EOC], selected using pre-defined criteria. Genotypes from 13,188 cases and 23,164 controls of European descent were used to perform unconditional logistic regression under the log-additive genetic model; odds ratios (OR) and 95 % confidence intervals are reported. Nine variants tagging six loci were associated with subtype-specific EOC risk at P < 0.05, and had an OR that agreed in direction of effect with the GWAS results. Several of these variants are in or near genes with a biological rationale for conferring EOC risk, including ZFP36L1 and RAD51B for mucinous EOC (rs17106154, OR = 1.17, P = 0.029, n = 1,483 cases), GRB10 for endometrioid and clear cell EOC (rs2190503, P = 0.014, n = 2,903 cases), and C22orf26/BPIL2 for LMP serous EOC (rs9609538, OR = 0.86, P = 0.0043, n = 892 cases). In analyses that included the 75 GWAS samples, the association between rs9609538 (OR = 0.84, P = 0.0007) and LMP serous EOC risk remained statistically significant at P < 0.0012 adjusted for multiple testing. Replication in additional samples will be important to verify these results for the less-common EOC subtypes. © 2013 Springer-Verlag Berlin Heidelberg.

Authors
Earp, MA; Kelemen, LE; Magliocco, AM; Swenerton, KD; Chenevix-Trench, G; Lu, Y; Hein, A; Ekici, AB; Beckmann, MW; Fasching, PA; Lambrechts, D; Despierre, E; Vergote, I; Lambrechts, S; Doherty, JA; Rossing, MA; Chang-Claude, J; Rudolph, A; Friel, G; Moysich, KB; Odunsi, K; Sucheston-Campbell, L; Lurie, G; Goodman, MT; Carney, ME; Thompson, PJ; Runnebaum, IB; Dürst, M; Hillemanns, P; Dörk, T; Antonenkova, N; Bogdanova, N; Leminen, A; Nevanlinna, H; Pelttari, LM; Butzow, R; Bunker, CH; Modugno, F; Edwards, RP; Ness, RB; Du Bois, A; Heitz, F; Schwaab, I; Harter, P; Karlan, BY; Walsh, C; Lester, J; Jensen, A; Kjær, SK; Høgdall, CK; Høgdall, E; Lundvall, L; Sellers, TA; Fridley, BL; Goode, EL; Cunningham, JM; Vierkant, RA; Giles, GG; Baglietto, L; Severi, G; Southey, MC; Liang, D; Wu, X; Lu, K; Hildebrandt, MAT; Levine, DA; Bisogna, M; Schildkraut, JM; Iversen, ES; Weber, RP; Berchuck, A; Cramer, DW; Terry, KL; Poole, EM; Tworoger, SS; Bandera, EV; Chandran, U
MLA Citation
Earp, MA, Kelemen, LE, Magliocco, AM, Swenerton, KD, Chenevix-Trench, G, Lu, Y, Hein, A, Ekici, AB, Beckmann, MW, Fasching, PA, Lambrechts, D, Despierre, E, Vergote, I, Lambrechts, S, Doherty, JA, Rossing, MA, Chang-Claude, J, Rudolph, A, Friel, G, Moysich, KB, Odunsi, K, Sucheston-Campbell, L, Lurie, G, Goodman, MT, Carney, ME, Thompson, PJ, Runnebaum, IB, Dürst, M, Hillemanns, P, Dörk, T, Antonenkova, N, Bogdanova, N, Leminen, A, Nevanlinna, H, Pelttari, LM, Butzow, R, Bunker, CH, Modugno, F, Edwards, RP, Ness, RB, Du Bois, A, Heitz, F, Schwaab, I, Harter, P, Karlan, BY, Walsh, C, Lester, J, Jensen, A, Kjær, SK, Høgdall, CK, Høgdall, E, Lundvall, L, Sellers, TA, Fridley, BL, Goode, EL, Cunningham, JM, Vierkant, RA, Giles, GG, Baglietto, L, Severi, G, Southey, MC, Liang, D, Wu, X, Lu, K, Hildebrandt, MAT, Levine, DA, Bisogna, M, Schildkraut, JM, Iversen, ES, Weber, RP, Berchuck, A, Cramer, DW, Terry, KL, Poole, EM, Tworoger, SS, Bandera, EV, and Chandran, U. "Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA." Human Genetics 133.5 (January 1, 2014): 481-497.
Source
scopus
Published In
Human Genetics
Volume
133
Issue
5
Publish Date
2014
Start Page
481
End Page
497
DOI
10.1007/s00439-013-1383-3

A modified bipedicle VRAM flap for simultaneous reconstruction of a perineal and posterior vaginal defect

© 2014, Springer-Verlag Berlin Heidelberg. The management of locally advanced pelvic tumors regularly requires radical surgical resection. The resection results in significant intrinsic and extrinsic pelvic defects. The advent of composite flaps has revolutionized vaginal and perineal reconstruction. Flaps provide bulky tissue to obliterate dead space, recruit vascularized tissue to an irradiated area and facilitate the skin closure. The authors present a modified vertical rectus abdominis myocutaneous (VRAM) flap for simultaneous reconstruction of a perineal and posterior vaginal defect following radical pelvic and abdominoperineal resection, based on two individual perforators off the inferior epigastric artery and vein with an excellent outcome. The English full-text version of this article is available at SpringerLink (under supplemental).

Authors
Kokosis, G; Schmitz, R; Secord, AA; Havrilesky, LJ; Berchuck, A; Mantyh, CR; Erdmann, D
MLA Citation
Kokosis, G, Schmitz, R, Secord, AA, Havrilesky, LJ, Berchuck, A, Mantyh, CR, and Erdmann, D. "A modified bipedicle VRAM flap for simultaneous reconstruction of a perineal and posterior vaginal defect." Gynakologe 47.10 (January 1, 2014): 784-787.
Source
scopus
Published In
Der Gynäkologe
Volume
47
Issue
10
Publish Date
2014
Start Page
784
End Page
787
DOI
10.1007/s00129-014-3448-3

Patient preferences in advanced or recurrent ovarian cancer

© 2014 American Cancer Society. BACKGROUND: The objective of this study was to elucidate relative preferences of women with ovarian cancer for symptoms, treatment-related side effects, and progression-free survival (PFS) relevant to choosing a treatment regimen. METHODS: Women with advanced or recurrent ovarian cancer participated in a survey that included 3 methods to measure patient preferences (ratings, rankings, and a discrete-choice experiment) for 7 attributes: mode of administration, visit frequency, peripheral neuropathy, nausea and vomiting, fatigue, abdominal discomfort, and PFS. Participants were asked to choose between 2 unlabeled treatment scenarios that were characterized using the 7 attributes. Each participant completed 12 choice questions in which attribute levels were assigned according to an experimental design and a fixed-choice question representing 2 chemotherapy regimens for ovarian cancer. RESULTS: In total, 95 women completed the survey. Participants' ratings and rankings revealed greater concern and importance for PFS than for any other attribute (P < .0001 for all). The discrete-choice experiment revealed that the relative odds that a participant would choose a scenario with 18 months, 21 months, and 24 months of PFS versus 15 months of PFS were 1.5 (P5.01), 3.4 (P < .001), and 7.5 (P < .001), respectively. However, participants' choices indicated that they were willing to accept a shorter PFS to avoid severe side effects: 6.7 months to reduce nausea and vomiting from severe to mild, 5.0 months to reduce neuropathy from severe to mild, and 3.7 months to reduce abdominal symptoms from severe to moderate. CONCLUSIONS: PFS is the predominant driver of patient preferences for chemotherapy regimens. However, women in the current study were willing to trade significant PFS time for reductions in treatment-related toxicity.

Authors
Havrilesky, LJ; Secord, AA; Ehrisman, JA; Berchuck, A; Valea, FA; Lee, PS; Gaillard, SL; Samsa, GP; Cella, D; Weinfurt, KP; Abernethy, AP; Reed, SD
MLA Citation
Havrilesky, LJ, Secord, AA, Ehrisman, JA, Berchuck, A, Valea, FA, Lee, PS, Gaillard, SL, Samsa, GP, Cella, D, Weinfurt, KP, Abernethy, AP, and Reed, SD. "Patient preferences in advanced or recurrent ovarian cancer." Cancer 120.23 (January 1, 2014): 3651-3659.
Source
scopus
Published In
Cancer
Volume
120
Issue
23
Publish Date
2014
Start Page
3651
End Page
3659
DOI
10.1002/cncr.28940

Differential Angiogenic Gene Expression in TP53 Wild-Type and Mutant Ovarian Cancer Cell Lines.

Underlying mechanisms regulating angiogenesis in ovarian cancer have not been completely elucidated. Evidence suggests that the TP53 tumor suppressor pathway and tumor microenvironment play integral roles. We utilized microarray technology to study the interaction between TP53 mutational status and hypoxia on angiogenic gene expression.Affymetrix U133A arrays were analyzed for angiogenic gene expression in 19 ovarian cancer cell lines stratified both by TP53 mutation status and A2780 wild-type (wt) TP53 vs. mutated (m) TP53 cell lines after treatment under hypoxic conditions or with ionizing radiation.Twenty-eight differentially expressed angiogenic genes were identified in the mTP53 cell lines compared to wtTP53 lines. Five genes were upregulated in mTP53 cells: 40% involved in extracellular matrix (ECM) degradation [matrix metalloproteinase 10 (MMP10)/15] and 60% in angiogenesis (fibroblast growth factor receptor 3/VEGFA/ephrin receptor-B4). Twenty-three genes were upregulated in wtTP53: nearly 22% were ECM constituents or involved in ECM degradation; over 40% were growth factors or mediators of angiogenesis. Five genes were upregulated in the A2780mTP53 cells: 40% involved in ECM remodeling (MMP10, ADAMTS1), 40% with pro-angiogenic activity (EFNB2, factor 2 receptor), and 20% with anti-angiogenic properties (ADAMTS1). Three genes were upregulated in hypoxia treated cells compared to controls: one with anti-angiogenic activity (angiopoietin-like 4) and two with pro-angiogenic activity (VEGFA, EFNA3). No significant gene fold changes were noted after exposure to radiation. Four genes continued to demonstrate significant differential expression (p ≤ 0.05) after adjusting for multiple comparisons. These genes included endoglin upregulation in wt lines (pro-angiogenesis) and upregulation of FGF20 (growth factor), ADAMTS1 (anti-angiogenesis) and MMP10 (ECM degradation) in mTP53 cell lines.Our exploratory findings indicate that non-overlapping angiogenic pathways may be altered by TP53 mutations and hypoxic conditions in the tumor microenvironment. Further evaluation is needed for confirmation.

Authors
Davidson, BA; Rubatt, JM; Corcoran, DL; Teoh, DK; Bernardini, MQ; Grace, LA; Soper, WJ; Berchuck, A; Siamakpour-Reihani, S; Chen, W; Owzar, K; Murphy, SK; Secord, AA
MLA Citation
Davidson, BA, Rubatt, JM, Corcoran, DL, Teoh, DK, Bernardini, MQ, Grace, LA, Soper, WJ, Berchuck, A, Siamakpour-Reihani, S, Chen, W, Owzar, K, Murphy, SK, and Secord, AA. "Differential Angiogenic Gene Expression in TP53 Wild-Type and Mutant Ovarian Cancer Cell Lines." Frontiers in Oncology 4 (January 2014): 163-.
PMID
24999452
Source
epmc
Published In
Frontiers in Oncology
Volume
4
Publish Date
2014
Start Page
163
DOI
10.3389/fonc.2014.00163

A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk.

Mean telomere length (TL) in blood cells is heritable and has been reported to be associated with risks of several diseases, including cancer. We conducted a meta-analysis of three GWAS for TL (total n=2240) and selected 1629 variants for replication via the "iCOGS" custom genotyping array. All ∼200 000 iCOGS variants were analysed with TL, and those displaying associations in healthy controls (n = 15 065) were further tested in breast cancer cases (n = 11 024). We found a novel TL association (Ptrend < 4 × 10(-10)) at 3p14.4 close to PXK and evidence (Ptrend < 7 × 10(-7)) for TL loci at 6p22.1 (ZNF311) and 20q11.2 (BCL2L1). We additionally confirmed (Ptrend < 5 × 10(-14)) the previously reported loci at 3q26.2 (TERC), 5p15.3 (TERT) and 10q24.3 (OBFC1) and found supportive evidence (Ptrend < 5 × 10(-4)) for the published loci at 2p16.2 (ACYP2), 4q32.2 (NAF1) and 20q13.3 (RTEL1). SNPs tagging these loci explain TL differences of up to 731 bp (corresponding to 18% of total TL in healthy individuals), however, they display little direct evidence for association with breast, ovarian or prostate cancer risks.

Authors
Pooley, KA; Bojesen, SE; Weischer, M; Nielsen, SF; Thompson, D; Amin Al Olama, A; Michailidou, K; Tyrer, JP; Benlloch, S; Brown, J; Audley, T; Luben, R; Khaw, K-T; Neal, DE; Hamdy, FC; Donovan, JL; Kote-Jarai, Z; Baynes, C; Shah, M; Bolla, MK; Wang, Q; Dennis, J; Dicks, E; Yang, R; Rudolph, A; Schildkraut, J; Chang-Claude, J; Burwinkel, B; Chenevix-Trench, G; Pharoah, PDP; Berchuck, A; Eeles, RA; Easton, DF; Dunning, AM; Nordestgaard, BG
MLA Citation
Pooley, KA, Bojesen, SE, Weischer, M, Nielsen, SF, Thompson, D, Amin Al Olama, A, Michailidou, K, Tyrer, JP, Benlloch, S, Brown, J, Audley, T, Luben, R, Khaw, K-T, Neal, DE, Hamdy, FC, Donovan, JL, Kote-Jarai, Z, Baynes, C, Shah, M, Bolla, MK, Wang, Q, Dennis, J, Dicks, E, Yang, R, Rudolph, A, Schildkraut, J, Chang-Claude, J, Burwinkel, B, Chenevix-Trench, G, Pharoah, PDP, Berchuck, A, Eeles, RA, Easton, DF, Dunning, AM, and Nordestgaard, BG. "A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk." Human Molecular Genetics 22.24 (December 2013): 5056-5064.
PMID
23900074
Source
epmc
Published In
Human Molecular Genetics
Volume
22
Issue
24
Publish Date
2013
Start Page
5056
End Page
5064
DOI
10.1093/hmg/ddt355

Evidence of a chemopreventive effect of progestin unrelated to ovulation on reproductive tract cancers in the egg-laying hen.

Epidemiologic, laboratory, and animal evidence suggests that progestins and vitamin D may be potent ovarian cancer preventives. Our objectives were to evaluate progestins as reproductive tract cancer chemopreventives in the chicken, determine whether restricted ovulation affected the incidence of reproductive tract tumors, and assess whether vitamin D would confer cancer protection either alone or in addition to progestin. A total of 2,400 two-year-old Single Comb White Leghorns were randomized into six groups (400 each) with hormonal and dietary manipulation for 2 years as follows: (i) no intervention, regular feed/caloric intake, (ii) control, (iii) vitamin D, (iv) the progestin levonorgestrel, (v) vitamin D plus levonorgestrel, and (vi) the progestin Provera (medroxyprogesterone acetate). Groups 2 to 6 were caloric restricted to inhibit ovulation. Our results indicated that caloric restriction decreased egg production by more than 60%, and was associated with a greater than 70% decrease in reproductive tract cancers. Ovulatory events did not differ among the caloric-restricted groups (groups 2-6), except for the group receiving levonorgestrel, which had fewer ovulatory events than controls (P = 0.046). After correcting for egg production, birds receiving progestins had significantly fewer reproductive tract cancers [OR, 0.61; confidence interval (CI), 0.39-0.95; P = 0.03], with similar proportionate reductions in tumors arising in either the ovary or oviduct. Vitamin D did not significantly affect cancer incidence overall, or add to the cancer preventive effect of progestins. This study suggests a protective effect of progestins against ovarian and oviductal cancers. These data support the concept that progestins provide a chemopreventive effect unrelated to ovulation.

Authors
Rodriguez, GC; Barnes, HJ; Anderson, KE; Whitaker, RS; Berchuck, A; Petitte, JN; Lancaster, JM; Wenham, RM; Turbov, JM; Day, R; Maxwell, GL; Carver, DK
MLA Citation
Rodriguez, GC, Barnes, HJ, Anderson, KE, Whitaker, RS, Berchuck, A, Petitte, JN, Lancaster, JM, Wenham, RM, Turbov, JM, Day, R, Maxwell, GL, and Carver, DK. "Evidence of a chemopreventive effect of progestin unrelated to ovulation on reproductive tract cancers in the egg-laying hen." Cancer Prev Res (Phila) 6.12 (December 2013): 1283-1292.
PMID
24136864
Source
pubmed
Published In
Cancer Prevention Research
Volume
6
Issue
12
Publish Date
2013
Start Page
1283
End Page
1292
DOI
10.1158/1940-6207.CAPR-12-0426

Molecular signatures of epithelial ovarian cancer: analysis of associations with tumor characteristics and epidemiologic risk factors.

BACKGROUND: Six gene expression subtypes of invasive epithelial ovarian cancer were recently defined using microarrays by Tothill and colleagues. The Cancer Genome Atlas (TCGA) project subsequently replicated these subtypes and identified a signature predictive of survival in high-grade serous (HGS) cancers. We previously validated these signatures for use in formalin-fixed paraffin-embedded tissues. The aim of the present study was to determine whether these signatures are associated with specific ovarian cancer risk factors, which would add to the evidence that they reflect the heterogeneous etiology of this disease. METHODS: We modeled signature-specific tumor characteristics and epidemiologic risk factor relationships using multiple regression and multivariate response multiple regression models in 193 patients from a case-control study of epithelial ovarian cancer. RESULTS: We observed associations between the Tothill gene expression subtype signatures and both age at diagnosis (P = 0.0008) and race (P = 0.008). Although most established epidemiologic risk factors were not associated with molecular signatures, there was an association between breast feeding (P = 0.024) and first-degree family history of breast or ovarian cancer (P = 0.034) among the 106 HGS cases. Some of the above associations were validated using gene expression microarray data from the TCGA project. Weak associations were seen with age at menarche and duration of oral contraceptive use and the TCGA survival signature. CONCLUSIONS: These data support the potential for genomic characterization to elucidate the etiologic heterogeneity of epithelial ovarian cancer. IMPACT: This study suggests that molecular signatures may augment the ability to define etiologic subtypes of epithelial ovarian cancer.

Authors
Schildkraut, JM; Iversen, ES; Akushevich, L; Whitaker, R; Bentley, RC; Berchuck, A; Marks, JR
MLA Citation
Schildkraut, JM, Iversen, ES, Akushevich, L, Whitaker, R, Bentley, RC, Berchuck, A, and Marks, JR. "Molecular signatures of epithelial ovarian cancer: analysis of associations with tumor characteristics and epidemiologic risk factors." Cancer Epidemiol Biomarkers Prev 22.10 (October 2013): 1709-1721.
PMID
23917454
Source
pubmed
Published In
Cancer Epidemiol Biomarkers Prev
Volume
22
Issue
10
Publish Date
2013
Start Page
1709
End Page
1721
DOI
10.1158/1055-9965.EPI-13-0192

ABCB1 (MDR1) polymorphisms and ovarian cancer progression and survival: a comprehensive analysis from the Ovarian Cancer Association Consortium and The Cancer Genome Atlas.

ABCB1 encodes the multi-drug efflux pump P-glycoprotein (P-gp) and has been implicated in multi-drug resistance. We comprehensively evaluated this gene and flanking regions for an association with clinical outcome in epithelial ovarian cancer (EOC).The best candidates from fine-mapping analysis of 21 ABCB1 SNPs tagging C1236T (rs1128503), G2677T/A (rs2032582), and C3435T (rs1045642) were analysed in 4616 European invasive EOC patients from thirteen Ovarian Cancer Association Consortium (OCAC) studies and The Cancer Genome Atlas (TCGA). Additionally we analysed 1,562 imputed SNPs around ABCB1 in patients receiving cytoreductive surgery and either 'standard' first-line paclitaxel-carboplatin chemotherapy (n=1158) or any first-line chemotherapy regimen (n=2867). We also evaluated ABCB1 expression in primary tumours from 143 EOC patients.Fine-mapping revealed that rs1128503, rs2032582, and rs1045642 were the best candidates in optimally debulked patients. However, we observed no significant association between any SNP and either progression-free survival or overall survival in analysis of data from 14 studies. There was a marginal association between rs1128503 and overall survival in patients with nil residual disease (HR 0.88, 95% CI 0.77-1.01; p=0.07). In contrast, ABCB1 expression in the primary tumour may confer worse prognosis in patients with sub-optimally debulked tumours.Our study represents the largest analysis of ABCB1 SNPs and EOC progression and survival to date, but has not identified additional signals, or validated reported associations with progression-free survival for rs1128503, rs2032582, and rs1045642. However, we cannot rule out the possibility of a subtle effect of rs1128503, or other SNPs linked to it, on overall survival.

Authors
Johnatty, SE; Beesley, J; Gao, B; Chen, X; Lu, Y; Law, MH; Henderson, MJ; Russell, AJ; Hedditch, EL; Emmanuel, C; Fereday, S; Webb, PM; Australian Ovarian Cancer Study Group, ; Goode, EL; Vierkant, RA; Fridley, BL; Cunningham, JM; Fasching, PA; Beckmann, MW; Ekici, AB; Hogdall, E; Kjaer, SK; Jensen, A; Hogdall, C; Brown, R; Paul, J; Lambrechts, S; Despierre, E; Vergote, I; Lester, J; Karlan, BY; Heitz, F; du Bois, A; Harter, P; Schwaab, I; Bean, Y; Pejovic, T; Levine, DA; Goodman, MT; Camey, ME; Thompson, PJ; Lurie, G; Shildkraut, J; Berchuck, A; Terry, KL; Cramer, DW; Norris, MD; Haber, M; MacGregor, S; deFazio, A; Chenevix-Trench, G
MLA Citation
Johnatty, SE, Beesley, J, Gao, B, Chen, X, Lu, Y, Law, MH, Henderson, MJ, Russell, AJ, Hedditch, EL, Emmanuel, C, Fereday, S, Webb, PM, Australian Ovarian Cancer Study Group, , Goode, EL, Vierkant, RA, Fridley, BL, Cunningham, JM, Fasching, PA, Beckmann, MW, Ekici, AB, Hogdall, E, Kjaer, SK, Jensen, A, Hogdall, C, Brown, R, Paul, J, Lambrechts, S, Despierre, E, Vergote, I, Lester, J, Karlan, BY, Heitz, F, du Bois, A, Harter, P, Schwaab, I, Bean, Y, Pejovic, T, Levine, DA, Goodman, MT, Camey, ME, Thompson, PJ, Lurie, G, Shildkraut, J, Berchuck, A, Terry, KL, Cramer, DW, Norris, MD, Haber, M, MacGregor, S, deFazio, A, and Chenevix-Trench, G. "ABCB1 (MDR1) polymorphisms and ovarian cancer progression and survival: a comprehensive analysis from the Ovarian Cancer Association Consortium and The Cancer Genome Atlas." Gynecologic Oncology 131.1 (October 2013): 8-14.
PMID
23917080
Source
epmc
Published In
Gynecologic Oncology
Volume
131
Issue
1
Publish Date
2013
Start Page
8
End Page
14
DOI
10.1016/j.ygyno.2013.07.107

Genital powder use and risk of ovarian cancer: a pooled analysis of 8,525 cases and 9,859 controls.

Genital powder use has been associated with risk of epithelial ovarian cancer in some, but not all, epidemiologic investigations, possibly reflecting the carcinogenic effects of talc particles found in most of these products. Whether risk increases with number of genital powder applications and for all histologic types of ovarian cancer also remains uncertain. Therefore, we estimated the association between self-reported genital powder use and epithelial ovarian cancer risk in eight population-based case-control studies. Individual data from each study were collected and harmonized. Lifetime number of genital powder applications was estimated from duration and frequency of use. Pooled ORs were calculated using conditional logistic regression matched on study and age and adjusted for potential confounders. Subtype-specific risks were estimated according to tumor behavior and histology. 8,525 cases and 9,859 controls were included in the analyses. Genital powder use was associated with a modest increased risk of epithelial ovarian cancer [OR, 1.24; 95% confidence interval (CI), 1.15-1.33] relative to women who never used powder. Risk was elevated for invasive serous (OR, 1.20; 95% CI, 1.09-1.32), endometrioid (OR, 1.22; 95% CI, 1.04-1.43), and clear cell (OR, 1.24; 95% CI, 1.01-1.52) tumors, and for borderline serous tumors (OR, 1.46; 95% CI, 1.24-1.72). Among genital powder users, we observed no significant trend (P = 0.17) in risk with increasing number of lifetime applications (assessed in quartiles). We noted no increase in risk among women who only reported nongenital powder use. In summary, genital powder use is a modifiable exposure associated with small-to-moderate increases in risk of most histologic subtypes of epithelial ovarian cancer.

Authors
Terry, KL; Karageorgi, S; Shvetsov, YB; Merritt, MA; Lurie, G; Thompson, PJ; Carney, ME; Weber, RP; Akushevich, L; Lo-Ciganic, W-H; Cushing-Haugen, K; Sieh, W; Moysich, K; Doherty, JA; Nagle, CM; Berchuck, A; Pearce, CL; Pike, M; Ness, RB; Webb, PM; Australian Cancer Study (Ovarian Cancer), ; Australian Ovarian Cancer Study Group, ; Rossing, MA; Schildkraut, J; Risch, H; Goodman, MT; Ovarian Cancer Association Consortium,
MLA Citation
Terry, KL, Karageorgi, S, Shvetsov, YB, Merritt, MA, Lurie, G, Thompson, PJ, Carney, ME, Weber, RP, Akushevich, L, Lo-Ciganic, W-H, Cushing-Haugen, K, Sieh, W, Moysich, K, Doherty, JA, Nagle, CM, Berchuck, A, Pearce, CL, Pike, M, Ness, RB, Webb, PM, Australian Cancer Study (Ovarian Cancer), , Australian Ovarian Cancer Study Group, , Rossing, MA, Schildkraut, J, Risch, H, Goodman, MT, and Ovarian Cancer Association Consortium, . "Genital powder use and risk of ovarian cancer: a pooled analysis of 8,525 cases and 9,859 controls." Cancer Prevention Research (Philadelphia, Pa.) 6.8 (August 2013): 811-821.
PMID
23761272
Source
epmc
Published In
Cancer Prevention Research
Volume
6
Issue
8
Publish Date
2013
Start Page
811
End Page
821
DOI
10.1158/1940-6207.CAPR-13-0037

Timing of end-of-life care discussion with performance on end-of-life quality indicators in ovarian cancer.

OBJECTIVES: (1) To describe the prevalence, timing and setting of documented end-of-life (EOL) discussions in patients with advanced ovarian cancer; and (2) to assess the impact of timing and setting of documented end-of-life discussions on EOL quality care measures. METHODS: A retrospective study of women who died of ovarian cancer diagnosed between 1999 and 2008 was conducted. The following are the EOL quality measures assessed: chemotherapy in the last 14 days of life, >1 hospitalization in the last 30 days, >1 ER visit in the last 30 days, intensive care unit (ICU) admission in the last 30 days, dying in an acute care setting, admitted to hospice ≤3 days. RESULTS: One hundred seventy-seven (80%) patients had documented end-of-life discussions. Median interval from EOL discussion until death was 29 days. Seventy-eight patients (44%) had EOL discussions as outpatient and 99 (56%) as inpatient. Sixty-four out of 220 (29%) patients' care did not conform to at least one EOL quality measure. An EOL discussion at least 30 days before death was associated with a lower incidence of: chemotherapy in the last 14 days of life (p=0.003), >1 hospitalization in the last 30 days (p<0.001), ICU admission in the last 30 days (p=0.005), dying in acute care setting (p=0.01), admitted to hospice ≤3 days (p=0.02). EOL discussion as outpatient was associated with fewer patients hospitalized >1 in the last 30days of life (p<0.001). CONCLUSIONS: End-of-life care discussions are occurring too late in the disease process. Conformance with EOL quality measures can be achieved with earlier end-of-life care discussions.

Authors
Lopez-Acevedo, M; Havrilesky, LJ; Broadwater, G; Kamal, AH; Abernethy, AP; Berchuck, A; Alvarez Secord, A; Tulsky, JA; Valea, F; Lee, PS
MLA Citation
Lopez-Acevedo, M, Havrilesky, LJ, Broadwater, G, Kamal, AH, Abernethy, AP, Berchuck, A, Alvarez Secord, A, Tulsky, JA, Valea, F, and Lee, PS. "Timing of end-of-life care discussion with performance on end-of-life quality indicators in ovarian cancer." Gynecologic Oncology 130.1 (July 2013): 156-161.
PMID
23587882
Source
epmc
Published In
Gynecologic Oncology
Volume
130
Issue
1
Publish Date
2013
Start Page
156
End Page
161
DOI
10.1016/j.ygyno.2013.04.010

Transcript expression in endometrial cancers from Black and White patients.

OBJECTIVE: Previous studies suggest that differences in molecular features of endometrial cancers between racial groups may contribute to the poorer survival in Blacks. The objective of this investigation was to determine whether gene expression among endometrial cancers is different between Blacks and Whites. METHODS: Fresh frozen tumors from 25 Black patients were matched by stage, grade, and histology to endometrial cancer specimens from 25 White patients. Each case was macrodissected to produce specimens possessing a minimum of 75% cancer cellularity. A subset of 10 matched pairs was also prepared using laser microdissection (LMD) to produce specimens possessing a minimum of 95% cancer cells. Total RNA isolated from each sample was analyzed using the Affymetrix Human Genome U133 Plus 2.0 arrays. Data were analyzed using principal component analysis and binary class comparison analyses. RESULTS: Unsupervised analysis of the 50 endometrial cancers failed to identify global gene expression profiles unique to Black or White patients. In a subset analysis of 10 matched pairs from Blacks and Whites prepared using LMD and macrodissection, unsupervised analysis did not reveal a unique gene expression profile associated with race in either set, but associations were identified that relate to sample preparation technique, histology and stage. CONCLUSIONS: Our microarray data revealed no global gene expression differences and identified few individual gene differences between endometrial cancers from Blacks and Whites. More comprehensive methods of transcriptome analysis could uncover RNAs that may underpin the disparity of outcome or prevalence of endometrial cancers in Blacks and Whites.

Authors
Maxwell, GL; Allard, J; Gadisetti, CVR; Litzi, T; Casablanca, Y; Chandran, U; Darcy, KM; Levine, DA; Berchuck, A; Hamilton, CA; Conrads, TP; Risinger, JI
MLA Citation
Maxwell, GL, Allard, J, Gadisetti, CVR, Litzi, T, Casablanca, Y, Chandran, U, Darcy, KM, Levine, DA, Berchuck, A, Hamilton, CA, Conrads, TP, and Risinger, JI. "Transcript expression in endometrial cancers from Black and White patients." Gynecol Oncol 130.1 (July 2013): 169-173.
PMID
23603370
Source
pubmed
Published In
Gynecologic Oncology
Volume
130
Issue
1
Publish Date
2013
Start Page
169
End Page
173
DOI
10.1016/j.ygyno.2013.04.017

Preface

Authors
Barakat, RR; Berchuck, A; Markman, M; Randall, ME
MLA Citation
Barakat, RR, Berchuck, A, Markman, M, and Randall, ME. "Preface." Principles and Practice of Gynecologic Oncology: Sixth Edition (May 8, 2013): xi-xii.
Source
scopus
Published In
Principles and Practice of Gynecologic Oncology: Sixth Edition
Publish Date
2013
Start Page
xi
End Page
xii

Principles and practice of gynecologic oncology: Sixth edition

© 2013, 2009, 2005, 2001, 1996, 1992 by Lippincott Williams & Wilkins, a Wolters Kluwer business. All rights reserved. Today, multidisciplinary approaches to treatment are at the heart of cancer care. They offer improved clinical outcomes, new possibilities in patient quality of life, and enable the development of true innovation in individualized treatment. To accurately reflect this modern day approach to cancer care, the content of the 6th edition of Principles and Practice of Gynecologic Oncology was written entirely by surgeons, medical oncologists, radiation oncologists, and pathologists. New to the editorial team, Dr. Andrew Berchuck has made significant contributions to the understanding of the molecular pathogenesis of ovarian and endometrial cancer in the book's content. Every chapter of this book has been either completely rewritten or extensively updated to ensure that everyone involved in treating women with gynecologic cancer will have the most comprehensive and up-to-date information on the subject. Traditionally available as a printed textbook, now it comes with a completely revamped digital experience, powered by Inkling!.

Authors
Barakat, RR; Berchuck, A; Markman, M; Randall, ME
MLA Citation
Barakat, RR, Berchuck, A, Markman, M, and Randall, ME. Principles and practice of gynecologic oncology: Sixth edition. May 8, 2013.
Source
scopus
Publish Date
2013
Start Page
1
End Page
1104

Molecular pathogenesis of gynecologic cancers

Authors
Berchuck, A; Levine, DA; Farley, JH; Birrer, MJ
MLA Citation
Berchuck, A, Levine, DA, Farley, JH, and Birrer, MJ. "Molecular pathogenesis of gynecologic cancers." Principles and Practice of Gynecologic Oncology: Sixth Edition. May 8, 2013. 30-59.
Source
scopus
Publish Date
2013
Start Page
30
End Page
59

Hereditary gynecologic cancers

Authors
Lu, KH; Berchuck, A; Kauff, ND
MLA Citation
Lu, KH, Berchuck, A, and Kauff, ND. "Hereditary gynecologic cancers." Principles and Practice of Gynecologic Oncology: Sixth Edition. May 8, 2013. 60-69.
Source
scopus
Publish Date
2013
Start Page
60
End Page
69

Analysis of over 10,000 Cases finds no association between previously reported candidate polymorphisms and ovarian cancer outcome.

Ovarian cancer is a leading cause of cancer-related death among women. In an effort to understand contributors to disease outcome, we evaluated single-nucleotide polymorphisms (SNP) previously associated with ovarian cancer recurrence or survival, specifically in angiogenesis, inflammation, mitosis, and drug disposition genes.Twenty-seven SNPs in VHL, HGF, IL18, PRKACB, ABCB1, CYP2C8, ERCC2, and ERCC1 previously associated with ovarian cancer outcome were genotyped in 10,084 invasive cases from 28 studies from the Ovarian Cancer Association Consortium with over 37,000-observed person-years and 4,478 deaths. Cox proportional hazards models were used to examine the association between candidate SNPs and ovarian cancer recurrence or survival with and without adjustment for key covariates.We observed no association between genotype and ovarian cancer recurrence or survival for any of the SNPs examined.These results refute prior associations between these SNPs and ovarian cancer outcome and underscore the importance of maximally powered genetic association studies.These variants should not be used in prognostic models. Alternate approaches to uncovering inherited prognostic factors, if they exist, are needed.

Authors
White, KL; Vierkant, RA; Fogarty, ZC; Charbonneau, B; Block, MS; Pharoah, PDP; Chenevix-Trench, G; for AOCS/ACS group;, ; Rossing, MA; Cramer, DW; Pearce, CL; Schildkraut, JM; Menon, U; Kjaer, SK; Levine, DA; Gronwald, J; Culver, HA; Whittemore, AS; Karlan, BY; Lambrechts, D; Wentzensen, N; Kupryjanczyk, J; Chang-Claude, J; Bandera, EV; Hogdall, E; Heitz, F; Kaye, SB; Fasching, PA; Campbell, I; Goodman, MT; Pejovic, T; Bean, Y; Lurie, G; Eccles, D; Hein, A; Beckmann, MW; Ekici, AB; Paul, J; Brown, R; Flanagan, JM; Harter, P; du Bois, A; Schwaab, I; Hogdall, CK; Lundvall, L; Olson, SH; Orlow, I; Paddock, LE; Rudolph, A; Eilber, U; Dansonka-Mieszkowska, A; Rzepecka, IK; Ziolkowska-Seta, I; Brinton, L; Yang, H; Garcia-Closas, M; Despierre, E; Lambrechts, S; Vergote, I; Walsh, C; Lester, J; Sieh, W; McGuire, V; Rothstein, JH; Ziogas, A; Lubinski, J; Cybulski, C; Menkiszak, J; Jensen, A; Gayther, SA; Ramus, SJ; Gentry-Maharaj, A; Berchuck, A; Wu, AH; Pike, MC; Van Denberg, D; Terry, KL; Vitonis, AF; Doherty, JA; Johnatty, SE; Defazio, A; Song, H; Tyrer, J; Sellers, TA; Phelan, CM; Kalli, KR; Cunningham, JM; Fridley, BL; Goode, EL
MLA Citation
White, KL, Vierkant, RA, Fogarty, ZC, Charbonneau, B, Block, MS, Pharoah, PDP, Chenevix-Trench, G, for AOCS/ACS group,, , Rossing, MA, Cramer, DW, Pearce, CL, Schildkraut, JM, Menon, U, Kjaer, SK, Levine, DA, Gronwald, J, Culver, HA, Whittemore, AS, Karlan, BY, Lambrechts, D, Wentzensen, N, Kupryjanczyk, J, Chang-Claude, J, Bandera, EV, Hogdall, E, Heitz, F, Kaye, SB, Fasching, PA, Campbell, I, Goodman, MT, Pejovic, T, Bean, Y, Lurie, G, Eccles, D, Hein, A, Beckmann, MW, Ekici, AB, Paul, J, Brown, R, Flanagan, JM, Harter, P, du Bois, A, Schwaab, I, Hogdall, CK, Lundvall, L, Olson, SH, Orlow, I, Paddock, LE, Rudolph, A, Eilber, U, Dansonka-Mieszkowska, A, Rzepecka, IK, Ziolkowska-Seta, I, Brinton, L, Yang, H, Garcia-Closas, M, Despierre, E, Lambrechts, S, Vergote, I, Walsh, C, Lester, J, Sieh, W, McGuire, V, Rothstein, JH, Ziogas, A, Lubinski, J, Cybulski, C, Menkiszak, J, Jensen, A, Gayther, SA, Ramus, SJ, Gentry-Maharaj, A, Berchuck, A, Wu, AH, Pike, MC, Van Denberg, D, Terry, KL, Vitonis, AF, Doherty, JA, Johnatty, SE, Defazio, A, Song, H, Tyrer, J, Sellers, TA, Phelan, CM, Kalli, KR, Cunningham, JM, Fridley, BL, and Goode, EL. "Analysis of over 10,000 Cases finds no association between previously reported candidate polymorphisms and ovarian cancer outcome." Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology 22.5 (May 2013): 987-992.
PMID
23513043
Source
epmc
Published In
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology
Volume
22
Issue
5
Publish Date
2013
Start Page
987
End Page
992
DOI
10.1158/1055-9965.EPI-13-0028

Combined and interactive effects of environmental and GWAS-identified risk factors in ovarian cancer.

There are several well-established environmental risk factors for ovarian cancer, and recent genome-wide association studies have also identified six variants that influence disease risk. However, the interplay between such risk factors and susceptibility loci has not been studied.Data from 14 ovarian cancer case-control studies were pooled, and stratified analyses by each environmental risk factor with tests for heterogeneity were conducted to determine the presence of interactions for all histologic subtypes. A genetic "risk score" was created to consider the effects of all six variants simultaneously. A multivariate model was fit to examine the association between all environmental risk factors and genetic risk score on ovarian cancer risk.Among 7,374 controls and 5,566 cases, there was no statistical evidence of interaction between the six SNPs or genetic risk score and the environmental risk factors on ovarian cancer risk. In a main effects model, women in the highest genetic risk score quartile had a 65% increased risk of ovarian cancer compared with women in the lowest [95% confidence interval (CI), 1.48-1.84]. Analyses by histologic subtype yielded risk differences across subtype for endometriosis (Phet < 0.001), parity (Phet < 0.01), and tubal ligation (Phet = 0.041).The lack of interactions suggests that a multiplicative model is the best fit for these data. Under such a model, we provide a robust estimate of the effect of each risk factor that sets the stage for absolute risk prediction modeling that considers both environmental and genetic risk factors. Further research into the observed differences in risk across histologic subtype is warranted.

Authors
Pearce, CL; Rossing, MA; Lee, AW; Ness, RB; Webb, PM; for Australian Cancer Study (Ovarian Cancer), ; Australian Ovarian Cancer Study Group, ; Chenevix-Trench, G; Jordan, SM; Stram, DA; Chang-Claude, J; Hein, R; Nickels, S; Lurie, G; Thompson, PJ; Carney, ME; Goodman, MT; Moysich, K; Hogdall, E; Jensen, A; Goode, EL; Fridley, BL; Cunningham, JM; Vierkant, RA; Weber, RP; Ziogas, A; Anton-Culver, H; Gayther, SA; Gentry-Maharaj, A; Menon, U; Ramus, SJ; Brinton, L; Wentzensen, N; Lissowska, J; Garcia-Closas, M; Massuger, LFAG; Kiemeney, LALM; Van Altena, AM; Aben, KKH; Berchuck, A; Doherty, JA; Iversen, E; McGuire, V; Moorman, PG; Pharoah, P; Pike, MC; Risch, H; Sieh, W; Stram, DO; Terry, KL; Whittemore, A; Wu, AH; Schildkraut, JM; Kjaer, SK; Ovarian Cancer Association Consortium,
MLA Citation
Pearce, CL, Rossing, MA, Lee, AW, Ness, RB, Webb, PM, for Australian Cancer Study (Ovarian Cancer), , Australian Ovarian Cancer Study Group, , Chenevix-Trench, G, Jordan, SM, Stram, DA, Chang-Claude, J, Hein, R, Nickels, S, Lurie, G, Thompson, PJ, Carney, ME, Goodman, MT, Moysich, K, Hogdall, E, Jensen, A, Goode, EL, Fridley, BL, Cunningham, JM, Vierkant, RA, Weber, RP, Ziogas, A, Anton-Culver, H, Gayther, SA, Gentry-Maharaj, A, Menon, U, Ramus, SJ, Brinton, L, Wentzensen, N, Lissowska, J, Garcia-Closas, M, Massuger, LFAG, Kiemeney, LALM, Van Altena, AM, Aben, KKH, Berchuck, A, Doherty, JA, Iversen, E, McGuire, V, Moorman, PG, Pharoah, P, Pike, MC, Risch, H, Sieh, W, Stram, DO, Terry, KL, Whittemore, A, Wu, AH, Schildkraut, JM, Kjaer, SK, and Ovarian Cancer Association Consortium, . "Combined and interactive effects of environmental and GWAS-identified risk factors in ovarian cancer." Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology 22.5 (May 2013): 880-890.
PMID
23462924
Source
epmc
Published In
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology
Volume
22
Issue
5
Publish Date
2013
Start Page
880
End Page
890
DOI
10.1158/1055-9965.EPI-12-1030-T

Integrated genomic characterization of endometrial carcinoma.

We performed an integrated genomic, transcriptomic and proteomic characterization of 373 endometrial carcinomas using array- and sequencing-based technologies. Uterine serous tumours and ∼25% of high-grade endometrioid tumours had extensive copy number alterations, few DNA methylation changes, low oestrogen receptor/progesterone receptor levels, and frequent TP53 mutations. Most endometrioid tumours had few copy number alterations or TP53 mutations, but frequent mutations in PTEN, CTNNB1, PIK3CA, ARID1A and KRAS and novel mutations in the SWI/SNF chromatin remodelling complex gene ARID5B. A subset of endometrioid tumours that we identified had a markedly increased transversion mutation frequency and newly identified hotspot mutations in POLE. Our results classified endometrial cancers into four categories: POLE ultramutated, microsatellite instability hypermutated, copy-number low, and copy-number high. Uterine serous carcinomas share genomic features with ovarian serous and basal-like breast carcinomas. We demonstrated that the genomic features of endometrial carcinomas permit a reclassification that may affect post-surgical adjuvant treatment for women with aggressive tumours.

Authors
Cancer Genome Atlas Research Network, ; Kandoth, C; Schultz, N; Cherniack, AD; Akbani, R; Liu, Y; Shen, H; Robertson, AG; Pashtan, I; Shen, R; Benz, CC; Yau, C; Laird, PW; Ding, L; Zhang, W; Mills, GB; Kucherlapati, R; Mardis, ER; Levine, DA
MLA Citation
Cancer Genome Atlas Research Network, , Kandoth, C, Schultz, N, Cherniack, AD, Akbani, R, Liu, Y, Shen, H, Robertson, AG, Pashtan, I, Shen, R, Benz, CC, Yau, C, Laird, PW, Ding, L, Zhang, W, Mills, GB, Kucherlapati, R, Mardis, ER, and Levine, DA. "Integrated genomic characterization of endometrial carcinoma." Nature 497.7447 (May 2013): 67-73.
PMID
23636398
Source
epmc
Published In
Nature
Volume
497
Issue
7447
Publish Date
2013
Start Page
67
End Page
73
DOI
10.1038/nature12113

Abstract 4850: Variation in circadian rhythm genes influence epithelial ovarian cancer risk and invasiveness.

Authors
Jim, H; Tyrer, J; Lin, H-Y; Han, G; Qu, X; Goode, EL; Chen, Z; Tsai, Y-Y; Cunningham, JM; Iversen, E; Ramus, S; Berchuck, A; Schildkraut, J; Monteiro, A; Gayther, S; Narod, SA; Sellers, TA; Pharoah, P; Phelan, CM
MLA Citation
Jim, H, Tyrer, J, Lin, H-Y, Han, G, Qu, X, Goode, EL, Chen, Z, Tsai, Y-Y, Cunningham, JM, Iversen, E, Ramus, S, Berchuck, A, Schildkraut, J, Monteiro, A, Gayther, S, Narod, SA, Sellers, TA, Pharoah, P, and Phelan, CM. "Abstract 4850: Variation in circadian rhythm genes influence epithelial ovarian cancer risk and invasiveness." April 15, 2013.
Source
crossref
Published In
Cancer Research
Volume
73
Issue
8 Supplement
Publish Date
2013
Start Page
4850
End Page
4850
DOI
10.1158/1538-7445.AM2013-4850

Abstract 330A: Differential expression of angiogenic genes in invasive high grade serous ovarian carcinomas.

Authors
Siamakpour- Reihani, S; Jiang, C; Turner, T; Owzar, K; Berchuck, A; Dewhirst, M; Alvarez Secord, A
MLA Citation
Siamakpour- Reihani, S, Jiang, C, Turner, T, Owzar, K, Berchuck, A, Dewhirst, M, and Alvarez Secord, A. "Abstract 330A: Differential expression of angiogenic genes in invasive high grade serous ovarian carcinomas." April 15, 2013.
Source
crossref
Published In
Cancer Research
Volume
73
Issue
8 Supplement
Publish Date
2013
Start Page
330A
End Page
330A
DOI
10.1158/1538-7445.AM2013-330A

Abstract 1352: Epithelial-mesenchymal transition (EMT) gene variants influence epithelial ovarian cancer risk in women of European, African and Asian ancestry.

Authors
Amankwah, EK; Tyrer, J; Lin, H-Y; Tsai, Y-Y; Chen, Z; Han, G; Qu, X; Goode, E; Cunninghan, J; Iverson, E; Ramus, S; Berchuck, A; Schildkraut, J; Monteiro, A; Gayther, S; Narod, S; Pharoah, P; Sellers, TA; Phelan, C
MLA Citation
Amankwah, EK, Tyrer, J, Lin, H-Y, Tsai, Y-Y, Chen, Z, Han, G, Qu, X, Goode, E, Cunninghan, J, Iverson, E, Ramus, S, Berchuck, A, Schildkraut, J, Monteiro, A, Gayther, S, Narod, S, Pharoah, P, Sellers, TA, and Phelan, C. "Abstract 1352: Epithelial-mesenchymal transition (EMT) gene variants influence epithelial ovarian cancer risk in women of European, African and Asian ancestry." April 15, 2013.
Source
crossref
Published In
Cancer Research
Volume
73
Issue
8 Supplement
Publish Date
2013
Start Page
1352
End Page
1352
DOI
10.1158/1538-7445.AM2013-1352

Abstract 4767: Preclinical mouse model of recurrent epithelial ovarian cancer.

Authors
Park, J; Huang, Z; Berchuck, A; Murphy, S
MLA Citation
Park, J, Huang, Z, Berchuck, A, and Murphy, S. "Abstract 4767: Preclinical mouse model of recurrent epithelial ovarian cancer." April 15, 2013.
Source
crossref
Published In
Cancer Research
Volume
73
Issue
8 Supplement
Publish Date
2013
Start Page
4767
End Page
4767
DOI
10.1158/1538-7445.AM2013-4767

Validation of ovarian cancer gene expression signatures for survival and subtype in formalin fixed paraffin embedded tissues.

INTRODUCTION: Gene expression signatures have been identified for epithelial ovarian cancer survival (TCGA) and intrinsic subtypes (Tothill et al.). One obstacle to clinical translation is that these signatures were developed using frozen tissue, whereas usually only formalin-fixed, paraffin embedded (FFPE) tissue is available. The aim of this study was to determine if gene expression signatures can be translated to fixed archival tissues. METHODS: RNA extracted from FFPE sections from 240 primary ovarian cancers was analyzed by DASL on Illumina BeadChip arrays. Concordance of expression at the individual gene level was assessed by comparing array data from the same cancers (30 frozen samples analyzed on Affymetrix arrays versus FFPE DASL). RESULTS: The correlation between FFPE and frozen survival signature estimates was 0.774. The TCGA signature using DASL was predictive of survival in 106 advanced stage high grade serous ovarian cancers (median survival 33 versus 60 months, estimated hazard ratio for death 2.30, P=0.0007). Similar to Tothill, we found using DASL that most high grade serous ovarian cancers (102/110, 93%) were assigned to subtypes 1, 2, 4 and 5, whereas most endometrioid, clear cell, mucinous and low grade serous cases (39/57, 68%) were assigned to subtypes 3 and 6 (P<10e-15). CONCLUSIONS: Although individual probe estimates of microarrays may be weakly correlated between FFPE and frozen samples, combinations of probes have robust ability to predict survival and subtype. This suggests that it may be possible to use these signatures for prognostic and predictive purposes as we seek to individualize the treatment of ovarian cancer.

Authors
Sfakianos, GP; Iversen, ES; Whitaker, R; Akushevich, L; Schildkraut, JM; Murphy, SK; Marks, JR; Berchuck, A
MLA Citation
Sfakianos, GP, Iversen, ES, Whitaker, R, Akushevich, L, Schildkraut, JM, Murphy, SK, Marks, JR, and Berchuck, A. "Validation of ovarian cancer gene expression signatures for survival and subtype in formalin fixed paraffin embedded tissues." Gynecol Oncol 129.1 (April 2013): 159-164.
PMID
23274563
Source
pubmed
Published In
Gynecologic Oncology
Volume
129
Issue
1
Publish Date
2013
Start Page
159
End Page
164
DOI
10.1016/j.ygyno.2012.12.030

Vitamin D receptor (VDR) polymorphisms and risk of ovarian cancer in Caucasian and African American women.

Polymorphisms in the vitamin D receptor (VDR) gene have been shown in some studies to be associated with the risk of epithelial ovarian cancer (EOC) in Caucasian women. There are no published reports among African Americans.Case-control data from the North Carolina Ovarian Cancer Study were analyzed using logistic regression to determine the association between seven VDR polymorphisms and EOC in both Caucasians (513 cases, 532 controls) and African Americans (74 cases, 79 controls). In a larger sample of African-Americans (125 cases, 155 controls), we assessed associations between six SNPs in proximity of rs7975232.African American women who carried at least one minor allele of rs7975232 were at higher risk for invasive EOC controlling for age and admixture with an odds ratio (OR) for association under the log-additive model of 2.08 (95% confidence interval (CI)=1.19, 3.63, p=0.010). No association was observed between any of the VDR variants and EOC among Caucasians. A larger sample of African Americans revealed a nearly two-fold increased risk of invasive EOC associated with rs7305032, a SNP in proximity to rs7975232 (R(2)=0.369) with a log-additive OR of 1.87 (95% CI=1.20, 2.93, p=0.006).This is the first report showing VDR variants associated with ovarian cancer risk in African American women. A larger study of African American women is needed to confirm these findings. These results imply that vitamin D exposure is a possible modifiable risk factor of ovarian cancer among African Americans.

Authors
Grant, DJ; Hoyo, C; Akushevich, L; Iversen, ES; Whitaker, R; Marks, J; Berchuck, A; Schildkraut, JM
MLA Citation
Grant, DJ, Hoyo, C, Akushevich, L, Iversen, ES, Whitaker, R, Marks, J, Berchuck, A, and Schildkraut, JM. "Vitamin D receptor (VDR) polymorphisms and risk of ovarian cancer in Caucasian and African American women." Gynecologic Oncology 129.1 (April 2013): 173-178.
PMID
23262379
Source
epmc
Published In
Gynecologic Oncology
Volume
129
Issue
1
Publish Date
2013
Start Page
173
End Page
178
DOI
10.1016/j.ygyno.2012.12.027

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.

TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ∼480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10(-7)), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10(-8)) and BRCA1 mutation carrier (P = 1.1 × 10(-5)) breast cancers and altered promoter assay signal. The minor allele at the peak 2 SNP rs7705526 associates with longer telomeres (P = 2.3 × 10(-14)), higher risk of low-malignant-potential ovarian cancer (P = 1.3 × 10(-15)) and greater promoter activity. The minor alleles at the peak 3 SNPs rs10069690 and rs2242652 increase ER-negative (P = 1.2 × 10(-12)) and BRCA1 mutation carrier (P = 1.6 × 10(-14)) breast and invasive ovarian (P = 1.3 × 10(-11)) cancer risks but not via altered telomere length. The cancer risk alleles of rs2242652 and rs10069690, respectively, increase silencing and generate a truncated TERT splice variant.

Authors
Bojesen, SE; Pooley, KA; Johnatty, SE; Beesley, J; Michailidou, K; Tyrer, JP; Edwards, SL; Pickett, HA; Shen, HC; Smart, CE; Hillman, KM; Mai, PL; Lawrenson, K; Stutz, MD; Lu, Y; Karevan, R; Woods, N; Johnston, RL; French, JD; Chen, X; Weischer, M; Nielsen, SF; Maranian, MJ; Ghoussaini, M; Ahmed, S; Baynes, C; Bolla, MK; Wang, Q; Dennis, J; McGuffog, L; Barrowdale, D; Lee, A; Healey, S; Lush, M; Tessier, DC; Vincent, D; Bacot, F; Australian Cancer Study, ; Australian Ovarian Cancer Study, ; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), ; Gene Environment Interaction and Breast Cancer (GENICA), ; Swedish Breast Cancer Study (SWE-BRCA), ; Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), ; Epidemiological study of BRCA1 & BRCA2 Mutation Carriers (EMBRACE), ; Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers (GEMO), ; Vergote, I; Lambrechts, S; Despierre, E; Risch, HA; González-Neira, A; Rossing, MA; Pita, G; Doherty, JA; Alvarez, N; Larson, MC; Fridley, BL; Schoof, N; Chang-Claude, J; Cicek, MS; Peto, J; Kalli, KR; Broeks, A; Armasu, SM; Schmidt, MK; Braaf, LM; Winterhoff, B; Nevanlinna, H; Konecny, GE; Lambrechts, D; Rogmann, L; Guénel, P; Teoman, A; Milne, RL; Garcia, JJ; Cox, A; Shridhar, V; Burwinkel, B; Marme, F; Hein, R; Sawyer, EJ; Haiman, CA; Wang-Gohrke, S; Andrulis, IL; Moysich, KB; Hopper, JL; Odunsi, K; Lindblom, A; Giles, GG; Brenner, H; Simard, J; Lurie, G; Fasching, PA; Carney, ME; Radice, P; Wilkens, LR; Swerdlow, A; Goodman, MT; Brauch, H; Garcia-Closas, M; Hillemanns, P; Winqvist, R; Dürst, M; Devilee, P; Runnebaum, I; Jakubowska, A; Lubinski, J; Mannermaa, A; Butzow, R; Bogdanova, NV; Dörk, T; Pelttari, LM; Zheng, W; Leminen, A; Anton-Culver, H; Bunker, CH; Kristensen, V; Ness, RB; Muir, K; Edwards, R; Meindl, A; Heitz, F; Matsuo, K; du Bois, A; Wu, AH; Harter, P; Teo, S-H; Schwaab, I; Shu, X-O; Blot, W; Hosono, S; Kang, D; Nakanishi, T; Hartman, M; Yatabe, Y; Hamann, U; Karlan, BY; Sangrajrang, S; Kjaer, SK; Gaborieau, V; Jensen, A; Eccles, D; Høgdall, E; Shen, C-Y; Brown, J; Woo, YL; Shah, M; Azmi, MAN; Luben, R; Omar, SZ; Czene, K; Vierkant, RA; Nordestgaard, BG; Flyger, H; Vachon, C; Olson, JE; Wang, X; Levine, DA; Rudolph, A; Weber, RP; Flesch-Janys, D; Iversen, E; Nickels, S; Schildkraut, JM; Silva, IDS; Cramer, DW; Gibson, L; Terry, KL; Fletcher, O; Vitonis, AF; van der Schoot, CE; Poole, EM; Hogervorst, FBL; Tworoger, SS; Liu, J; Bandera, EV; Li, J; Olson, SH; Humphreys, K; Orlow, I; Blomqvist, C; Rodriguez-Rodriguez, L; Aittomäki, K; Salvesen, HB; Muranen, TA; Wik, E; Brouwers, B; Krakstad, C; Wauters, E; Halle, MK; Wildiers, H; Kiemeney, LA; Mulot, C; Aben, KK; Laurent-Puig, P; Altena, AM; Truong, T; Massuger, LFAG; Benitez, J; Pejovic, T; Perez, JIA; Hoatlin, M; Zamora, MP; Cook, LS; Balasubramanian, SP; Kelemen, LE; Schneeweiss, A; Le, ND; Sohn, C; Brooks-Wilson, A; Tomlinson, I; Kerin, MJ; Miller, N; Cybulski, C; Henderson, BE; Menkiszak, J; Schumacher, F; Wentzensen, N; Le Marchand, L; Yang, HP; Mulligan, AM; Glendon, G; Engelholm, SA; Knight, JA; Høgdall, CK; Apicella, C; Gore, M; Tsimiklis, H; Song, H; Southey, MC; Jager, A; den Ouweland, AMW; Brown, R; Martens, JWM; Flanagan, JM; Kriege, M; Paul, J; Margolin, S; Siddiqui, N; Severi, G; Whittemore, AS; Baglietto, L; McGuire, V; Stegmaier, C; Sieh, W; Müller, H; Arndt, V; Labrèche, F; Gao, Y-T; Goldberg, MS; Yang, G; Dumont, M; McLaughlin, JR; Hartmann, A; Ekici, AB; Beckmann, MW; Phelan, CM; Lux, MP; Permuth-Wey, J; Peissel, B; Sellers, TA; Ficarazzi, F; Barile, M; Ziogas, A; Ashworth, A; Gentry-Maharaj, A; Jones, M; Ramus, SJ; Orr, N; Menon, U; Pearce, CL; Brüning, T; Pike, MC; Ko, Y-D; Lissowska, J; Figueroa, J; Kupryjanczyk, J; Chanock, SJ; Dansonka-Mieszkowska, A; Jukkola-Vuorinen, A; Rzepecka, IK; Pylkäs, K; Bidzinski, M; Kauppila, S; Hollestelle, A; Seynaeve, C; Tollenaar, RAEM; Durda, K; Jaworska, K; Hartikainen, JM; Kosma, V-M; Kataja, V; Antonenkova, NN; Long, J; Shrubsole, M; Deming-Halverson, S; Lophatananon, A; Siriwanarangsan, P; Stewart-Brown, S; Ditsch, N; Lichtner, P; Schmutzler, RK; Ito, H; Iwata, H; Tajima, K; Tseng, C-C; Stram, DO; van den Berg, D; Yip, CH; Ikram, MK; Teh, Y-C; Cai, H; Lu, W; Signorello, LB; Cai, Q; Noh, D-Y; Yoo, K-Y; Miao, H; Iau, PT-C; Teo, YY; McKay, J; Shapiro, C; Ademuyiwa, F; Fountzilas, G; Hsiung, C-N; Yu, J-C; Hou, M-F; Healey, CS; Luccarini, C; Peock, S; Stoppa-Lyonnet, D; Peterlongo, P; Rebbeck, TR; Piedmonte, M; Singer, CF; Friedman, E; Thomassen, M; Offit, K; Hansen, TVO; Neuhausen, SL; Szabo, CI; Blanco, I; Garber, J; Narod, SA; Weitzel, JN; Montagna, M; Olah, E; Godwin, AK; Yannoukakos, D; Goldgar, DE; Caldes, T; Imyanitov, EN; Tihomirova, L; Arun, BK; Campbell, I; Mensenkamp, AR; van Asperen, CJ; van Roozendaal, KEP; Meijers-Heijboer, H; Collée, JM; Oosterwijk, JC; Hooning, MJ; Rookus, MA; van der Luijt, RB; Os, TAM; Evans, DG; Frost, D; Fineberg, E; Barwell, J; Walker, L; Kennedy, MJ; Platte, R; Davidson, R; Ellis, SD; Cole, T; Bressac-de Paillerets, B; Buecher, B; Damiola, F; Faivre, L; Frenay, M; Sinilnikova, OM; Caron, O; Giraud, S; Mazoyer, S; Bonadona, V; Caux-Moncoutier, V; Toloczko-Grabarek, A; Gronwald, J; Byrski, T; Spurdle, AB; Bonanni, B; Zaffaroni, D; Giannini, G; Bernard, L; Dolcetti, R; Manoukian, S; Arnold, N; Engel, C; Deissler, H; Rhiem, K; Niederacher, D; Plendl, H; Sutter, C; Wappenschmidt, B; Borg, A; Melin, B; Rantala, J; Soller, M; Nathanson, KL; Domchek, SM; Rodriguez, GC; Salani, R; Kaulich, DG; Tea, M-K; Paluch, SS; Laitman, Y; Skytte, A-B; Kruse, TA; Jensen, UB; Robson, M; Gerdes, A-M; Ejlertsen, B; Foretova, L; Savage, SA; Lester, J; Soucy, P; Kuchenbaecker, KB; Olswold, C; Cunningham, JM; Slager, S; Pankratz, VS; Dicks, E; Lakhani, SR; Couch, FJ; Hall, P; Monteiro, ANA; Gayther, SA; Pharoah, PDP; Reddel, RR; Goode, EL; Greene, MH; Easton, DF; Berchuck, A; Antoniou, AC; Chenevix-Trench, G; Dunning, AM
MLA Citation
Bojesen, SE, Pooley, KA, Johnatty, SE, Beesley, J, Michailidou, K, Tyrer, JP, Edwards, SL, Pickett, HA, Shen, HC, Smart, CE, Hillman, KM, Mai, PL, Lawrenson, K, Stutz, MD, Lu, Y, Karevan, R, Woods, N, Johnston, RL, French, JD, Chen, X, Weischer, M, Nielsen, SF, Maranian, MJ, Ghoussaini, M, Ahmed, S, Baynes, C, Bolla, MK, Wang, Q, Dennis, J, McGuffog, L, Barrowdale, D, Lee, A, Healey, S, Lush, M, Tessier, DC, Vincent, D, Bacot, F, Australian Cancer Study, , Australian Ovarian Cancer Study, , Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), , Gene Environment Interaction and Breast Cancer (GENICA), , Swedish Breast Cancer Study (SWE-BRCA), , Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), , Epidemiological study of BRCA1 & BRCA2 Mutation Carriers (EMBRACE), , Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers (GEMO), , Vergote, I, Lambrechts, S, Despierre, E, Risch, HA, González-Neira, A, Rossing, MA, Pita, G, Doherty, JA, Alvarez, N, Larson, MC, Fridley, BL, Schoof, N, Chang-Claude, J, Cicek, MS, Peto, J, Kalli, KR, Broeks, A, Armasu, SM, Schmidt, MK, Braaf, LM, Winterhoff, B, Nevanlinna, H, Konecny, GE, Lambrechts, D, Rogmann, L, Guénel, P, Teoman, A, Milne, RL, Garcia, JJ, Cox, A, Shridhar, V, Burwinkel, B, Marme, F, Hein, R, Sawyer, EJ, Haiman, CA, Wang-Gohrke, S, Andrulis, IL, Moysich, KB, Hopper, JL, Odunsi, K, Lindblom, A, Giles, GG, Brenner, H, Simard, J, Lurie, G, Fasching, PA, Carney, ME, Radice, P, Wilkens, LR, Swerdlow, A, Goodman, MT, Brauch, H, Garcia-Closas, M, Hillemanns, P, Winqvist, R, Dürst, M, Devilee, P, Runnebaum, I, Jakubowska, A, Lubinski, J, Mannermaa, A, Butzow, R, Bogdanova, NV, Dörk, T, Pelttari, LM, Zheng, W, Leminen, A, Anton-Culver, H, Bunker, CH, Kristensen, V, Ness, RB, Muir, K, Edwards, R, Meindl, A, Heitz, F, Matsuo, K, du Bois, A, Wu, AH, Harter, P, Teo, S-H, Schwaab, I, Shu, X-O, Blot, W, Hosono, S, Kang, D, Nakanishi, T, Hartman, M, Yatabe, Y, Hamann, U, Karlan, BY, Sangrajrang, S, Kjaer, SK, Gaborieau, V, Jensen, A, Eccles, D, Høgdall, E, Shen, C-Y, Brown, J, Woo, YL, Shah, M, Azmi, MAN, Luben, R, Omar, SZ, Czene, K, Vierkant, RA, Nordestgaard, BG, Flyger, H, Vachon, C, Olson, JE, Wang, X, Levine, DA, Rudolph, A, Weber, RP, Flesch-Janys, D, Iversen, E, Nickels, S, Schildkraut, JM, Silva, IDS, Cramer, DW, Gibson, L, Terry, KL, Fletcher, O, Vitonis, AF, van der Schoot, CE, Poole, EM, Hogervorst, FBL, Tworoger, SS, Liu, J, Bandera, EV, Li, J, Olson, SH, Humphreys, K, Orlow, I, Blomqvist, C, Rodriguez-Rodriguez, L, Aittomäki, K, Salvesen, HB, Muranen, TA, Wik, E, Brouwers, B, Krakstad, C, Wauters, E, Halle, MK, Wildiers, H, Kiemeney, LA, Mulot, C, Aben, KK, Laurent-Puig, P, Altena, AM, Truong, T, Massuger, LFAG, Benitez, J, Pejovic, T, Perez, JIA, Hoatlin, M, Zamora, MP, Cook, LS, Balasubramanian, SP, Kelemen, LE, Schneeweiss, A, Le, ND, Sohn, C, Brooks-Wilson, A, Tomlinson, I, Kerin, MJ, Miller, N, Cybulski, C, Henderson, BE, Menkiszak, J, Schumacher, F, Wentzensen, N, Le Marchand, L, Yang, HP, Mulligan, AM, Glendon, G, Engelholm, SA, Knight, JA, Høgdall, CK, Apicella, C, Gore, M, Tsimiklis, H, Song, H, Southey, MC, Jager, A, den Ouweland, AMW, Brown, R, Martens, JWM, Flanagan, JM, Kriege, M, Paul, J, Margolin, S, Siddiqui, N, Severi, G, Whittemore, AS, Baglietto, L, McGuire, V, Stegmaier, C, Sieh, W, Müller, H, Arndt, V, Labrèche, F, Gao, Y-T, Goldberg, MS, Yang, G, Dumont, M, McLaughlin, JR, Hartmann, A, Ekici, AB, Beckmann, MW, Phelan, CM, Lux, MP, Permuth-Wey, J, Peissel, B, Sellers, TA, Ficarazzi, F, Barile, M, Ziogas, A, Ashworth, A, Gentry-Maharaj, A, Jones, M, Ramus, SJ, Orr, N, Menon, U, Pearce, CL, Brüning, T, Pike, MC, Ko, Y-D, Lissowska, J, Figueroa, J, Kupryjanczyk, J, Chanock, SJ, Dansonka-Mieszkowska, A, Jukkola-Vuorinen, A, Rzepecka, IK, Pylkäs, K, Bidzinski, M, Kauppila, S, Hollestelle, A, Seynaeve, C, Tollenaar, RAEM, Durda, K, Jaworska, K, Hartikainen, JM, Kosma, V-M, Kataja, V, Antonenkova, NN, Long, J, Shrubsole, M, Deming-Halverson, S, Lophatananon, A, Siriwanarangsan, P, Stewart-Brown, S, Ditsch, N, Lichtner, P, Schmutzler, RK, Ito, H, Iwata, H, Tajima, K, Tseng, C-C, Stram, DO, van den Berg, D, Yip, CH, Ikram, MK, Teh, Y-C, Cai, H, Lu, W, Signorello, LB, Cai, Q, Noh, D-Y, Yoo, K-Y, Miao, H, Iau, PT-C, Teo, YY, McKay, J, Shapiro, C, Ademuyiwa, F, Fountzilas, G, Hsiung, C-N, Yu, J-C, Hou, M-F, Healey, CS, Luccarini, C, Peock, S, Stoppa-Lyonnet, D, Peterlongo, P, Rebbeck, TR, Piedmonte, M, Singer, CF, Friedman, E, Thomassen, M, Offit, K, Hansen, TVO, Neuhausen, SL, Szabo, CI, Blanco, I, Garber, J, Narod, SA, Weitzel, JN, Montagna, M, Olah, E, Godwin, AK, Yannoukakos, D, Goldgar, DE, Caldes, T, Imyanitov, EN, Tihomirova, L, Arun, BK, Campbell, I, Mensenkamp, AR, van Asperen, CJ, van Roozendaal, KEP, Meijers-Heijboer, H, Collée, JM, Oosterwijk, JC, Hooning, MJ, Rookus, MA, van der Luijt, RB, Os, TAM, Evans, DG, Frost, D, Fineberg, E, Barwell, J, Walker, L, Kennedy, MJ, Platte, R, Davidson, R, Ellis, SD, Cole, T, Bressac-de Paillerets, B, Buecher, B, Damiola, F, Faivre, L, Frenay, M, Sinilnikova, OM, Caron, O, Giraud, S, Mazoyer, S, Bonadona, V, Caux-Moncoutier, V, Toloczko-Grabarek, A, Gronwald, J, Byrski, T, Spurdle, AB, Bonanni, B, Zaffaroni, D, Giannini, G, Bernard, L, Dolcetti, R, Manoukian, S, Arnold, N, Engel, C, Deissler, H, Rhiem, K, Niederacher, D, Plendl, H, Sutter, C, Wappenschmidt, B, Borg, A, Melin, B, Rantala, J, Soller, M, Nathanson, KL, Domchek, SM, Rodriguez, GC, Salani, R, Kaulich, DG, Tea, M-K, Paluch, SS, Laitman, Y, Skytte, A-B, Kruse, TA, Jensen, UB, Robson, M, Gerdes, A-M, Ejlertsen, B, Foretova, L, Savage, SA, Lester, J, Soucy, P, Kuchenbaecker, KB, Olswold, C, Cunningham, JM, Slager, S, Pankratz, VS, Dicks, E, Lakhani, SR, Couch, FJ, Hall, P, Monteiro, ANA, Gayther, SA, Pharoah, PDP, Reddel, RR, Goode, EL, Greene, MH, Easton, DF, Berchuck, A, Antoniou, AC, Chenevix-Trench, G, and Dunning, AM. "Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer." Nature Genetics 45.4 (April 2013): 371-384e2.
PMID
23535731
Source
epmc
Published In
Nature Genetics
Volume
45
Issue
4
Publish Date
2013
Start Page
371
End Page
384e2
DOI
10.1038/ng.2566

GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.

Genome-wide association studies (GWAS) have identified four susceptibility loci for epithelial ovarian cancer (EOC), with another two suggestive loci reaching near genome-wide significance. We pooled data from a GWAS conducted in North America with another GWAS from the UK. We selected the top 24,551 SNPs for inclusion on the iCOGS custom genotyping array. We performed follow-up genotyping in 18,174 individuals with EOC (cases) and 26,134 controls from 43 studies from the Ovarian Cancer Association Consortium. We validated the two loci at 3q25 and 17q21 that were previously found to have associations close to genome-wide significance and identified three loci newly associated with risk: two loci associated with all EOC subtypes at 8q21 (rs11782652, P = 5.5 × 10(-9)) and 10p12 (rs1243180, P = 1.8 × 10(-8)) and another locus specific to the serous subtype at 17q12 (rs757210, P = 8.1 × 10(-10)). An integrated molecular analysis of genes and regulatory regions at these loci provided evidence for functional mechanisms underlying susceptibility and implicated CHMP4C in the pathogenesis of ovarian cancer.

Authors
Pharoah, PDP; Tsai, Y-Y; Ramus, SJ; Phelan, CM; Goode, EL; Lawrenson, K; Buckley, M; Fridley, BL; Tyrer, JP; Shen, H; Weber, R; Karevan, R; Larson, MC; Song, H; Tessier, DC; Bacot, F; Vincent, D; Cunningham, JM; Dennis, J; Dicks, E; Australian Cancer Study, ; Australian Ovarian Cancer Study Group, ; Aben, KK; Anton-Culver, H; Antonenkova, N; Armasu, SM; Baglietto, L; Bandera, EV; Beckmann, MW; Birrer, MJ; Bloom, G; Bogdanova, N; Brenton, JD; Brinton, LA; Brooks-Wilson, A; Brown, R; Butzow, R; Campbell, I; Carney, ME; Carvalho, RS; Chang-Claude, J; Chen, YA; Chen, Z; Chow, W-H; Cicek, MS; Coetzee, G; Cook, LS; Cramer, DW; Cybulski, C; Dansonka-Mieszkowska, A; Despierre, E; Doherty, JA; Dörk, T; du Bois, A; Dürst, M; Eccles, D; Edwards, R; Ekici, AB; Fasching, PA; Fenstermacher, D; Flanagan, J; Gao, Y-T; Garcia-Closas, M; Gentry-Maharaj, A; Giles, G; Gjyshi, A; Gore, M; Gronwald, J; Guo, Q; Halle, MK; Harter, P; Hein, A; Heitz, F; Hillemanns, P; Hoatlin, M; Høgdall, E; Høgdall, CK; Hosono, S; Jakubowska, A; Jensen, A; Kalli, KR; Karlan, BY; Kelemen, LE; Kiemeney, LA; Kjaer, SK; Konecny, GE; Krakstad, C; Kupryjanczyk, J; Lambrechts, D; Lambrechts, S; Le, ND; Lee, N; Lee, J; Leminen, A; Lim, BK; Lissowska, J; Lubiński, J; Lundvall, L; Lurie, G; Massuger, LFAG; Matsuo, K; McGuire, V; McLaughlin, JR; Menon, U; Modugno, F; Moysich, KB; Nakanishi, T; Narod, SA; Ness, RB; Nevanlinna, H; Nickels, S; Noushmehr, H; Odunsi, K; Olson, S; Orlow, I; Paul, J; Pejovic, T; Pelttari, LM; Permuth-Wey, J; Pike, MC; Poole, EM; Qu, X; Risch, HA; Rodriguez-Rodriguez, L; Rossing, MA; Rudolph, A; Runnebaum, I; Rzepecka, IK; Salvesen, HB; Schwaab, I; Severi, G; Shen, H; Shridhar, V; Shu, X-O; Sieh, W; Southey, MC; Spellman, P; Tajima, K; Teo, S-H; Terry, KL; Thompson, PJ; Timorek, A; Tworoger, SS; van Altena, AM; van den Berg, D; Vergote, I; Vierkant, RA; Vitonis, AF; Wang-Gohrke, S; Wentzensen, N; Whittemore, AS; Wik, E; Winterhoff, B; Woo, YL; Wu, AH; Yang, HP; Zheng, W; Ziogas, A; Zulkifli, F; Goodman, MT; Hall, P; Easton, DF; Pearce, CL; Berchuck, A; Chenevix-Trench, G; Iversen, E; Monteiro, ANA; Gayther, SA; Schildkraut, JM; Sellers, TA
MLA Citation
Pharoah, PDP, Tsai, Y-Y, Ramus, SJ, Phelan, CM, Goode, EL, Lawrenson, K, Buckley, M, Fridley, BL, Tyrer, JP, Shen, H, Weber, R, Karevan, R, Larson, MC, Song, H, Tessier, DC, Bacot, F, Vincent, D, Cunningham, JM, Dennis, J, Dicks, E, Australian Cancer Study, , Australian Ovarian Cancer Study Group, , Aben, KK, Anton-Culver, H, Antonenkova, N, Armasu, SM, Baglietto, L, Bandera, EV, Beckmann, MW, Birrer, MJ, Bloom, G, Bogdanova, N, Brenton, JD, Brinton, LA, Brooks-Wilson, A, Brown, R, Butzow, R, Campbell, I, Carney, ME, Carvalho, RS, Chang-Claude, J, Chen, YA, Chen, Z, Chow, W-H, Cicek, MS, Coetzee, G, Cook, LS, Cramer, DW, Cybulski, C, Dansonka-Mieszkowska, A, Despierre, E, Doherty, JA, Dörk, T, du Bois, A, Dürst, M, Eccles, D, Edwards, R, Ekici, AB, Fasching, PA, Fenstermacher, D, Flanagan, J, Gao, Y-T, Garcia-Closas, M, Gentry-Maharaj, A, Giles, G, Gjyshi, A, Gore, M, Gronwald, J, Guo, Q, Halle, MK, Harter, P, Hein, A, Heitz, F, Hillemanns, P, Hoatlin, M, Høgdall, E, Høgdall, CK, Hosono, S, Jakubowska, A, Jensen, A, Kalli, KR, Karlan, BY, Kelemen, LE, Kiemeney, LA, Kjaer, SK, Konecny, GE, Krakstad, C, Kupryjanczyk, J, Lambrechts, D, Lambrechts, S, Le, ND, Lee, N, Lee, J, Leminen, A, Lim, BK, Lissowska, J, Lubiński, J, Lundvall, L, Lurie, G, Massuger, LFAG, Matsuo, K, McGuire, V, McLaughlin, JR, Menon, U, Modugno, F, Moysich, KB, Nakanishi, T, Narod, SA, Ness, RB, Nevanlinna, H, Nickels, S, Noushmehr, H, Odunsi, K, Olson, S, Orlow, I, Paul, J, Pejovic, T, Pelttari, LM, Permuth-Wey, J, Pike, MC, Poole, EM, Qu, X, Risch, HA, Rodriguez-Rodriguez, L, Rossing, MA, Rudolph, A, Runnebaum, I, Rzepecka, IK, Salvesen, HB, Schwaab, I, Severi, G, Shen, H, Shridhar, V, Shu, X-O, Sieh, W, Southey, MC, Spellman, P, Tajima, K, Teo, S-H, Terry, KL, Thompson, PJ, Timorek, A, Tworoger, SS, van Altena, AM, van den Berg, D, Vergote, I, Vierkant, RA, Vitonis, AF, Wang-Gohrke, S, Wentzensen, N, Whittemore, AS, Wik, E, Winterhoff, B, Woo, YL, Wu, AH, Yang, HP, Zheng, W, Ziogas, A, Zulkifli, F, Goodman, MT, Hall, P, Easton, DF, Pearce, CL, Berchuck, A, Chenevix-Trench, G, Iversen, E, Monteiro, ANA, Gayther, SA, Schildkraut, JM, and Sellers, TA. "GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer." Nature Genetics 45.4 (April 2013): 362-370e2.
PMID
23535730
Source
epmc
Published In
Nature Genetics
Volume
45
Issue
4
Publish Date
2013
Start Page
362
End Page
370e2
DOI
10.1038/ng.2564

Tubal ligation and risk of ovarian cancer subtypes: a pooled analysis of case-control studies.

Tubal ligation is a protective factor for ovarian cancer, but it is unknown whether this protection extends to all invasive histological subtypes or borderline tumors. We undertook an international collaborative study to examine the association between tubal ligation and ovarian cancer subtypes.We pooled primary data from 13 population-based case-control studies, including 10,157 patients with ovarian cancer (7942 invasive; 2215 borderline) and 13,904 control women. Invasive cases were analysed by histological type, grade and stage, and borderline cases were analysed by histological type. Pooled odds ratios were estimated using conditional logistic regression to match on site, race/ethnicity and age categories, and to adjust for age, oral contraceptive use duration and number of full-term births.Tubal ligation was associated with significantly reduced risks of invasive serous (OR, 0.81; 95% CI, 0.74-0.89; P < 0.001), endometrioid (OR, 0.48; 95% CI, 0.40-0.59; P < 0.001), clear cell (OR, 0.52; 95% CI, 0.40-0.67; P < 0.001) and mucinous (OR, 0.68; 95% CI, 0.52-0.89; P = 0.005) cancers. The magnitude of risk reduction was significantly greater for invasive endometrioid (P < 0.0001) and clear cell (P = 0.0018) than for serous cancer. No significant associations were found with borderline serous or mucinous tumours.We found that the protective effects of tubal ligation on ovarian cancer risk were subtype-specific. These findings provide insights into distinct aetiologies of ovarian cancer subtypes and mechanisms underlying the protective effects of tubal ligation.

Authors
Sieh, W; Salvador, S; McGuire, V; Weber, RP; Terry, KL; Rossing, MA; Risch, H; Wu, AH; Webb, PM; Moysich, K; Doherty, JA; Felberg, A; Miller, D; Jordan, SJ; Australian Cancer Study (Ovarian Cancer), ; Australian Ovarian Cancer Study Group, ; Goodman, MT; Lurie, G; Chang-Claude, J; Rudolph, A; Kjær, SK; Jensen, A; Høgdall, E; Bandera, EV; Olson, SH; King, MG; Rodriguez-Rodriguez, L; Kiemeney, LA; Marees, T; Massuger, LF; van Altena, AM; Ness, RB; Cramer, DW; Pike, MC; Pearce, CL; Berchuck, A; Schildkraut, JM; Whittemore, AS; Ovarian Cancer Association Consortium,
MLA Citation
Sieh, W, Salvador, S, McGuire, V, Weber, RP, Terry, KL, Rossing, MA, Risch, H, Wu, AH, Webb, PM, Moysich, K, Doherty, JA, Felberg, A, Miller, D, Jordan, SJ, Australian Cancer Study (Ovarian Cancer), , Australian Ovarian Cancer Study Group, , Goodman, MT, Lurie, G, Chang-Claude, J, Rudolph, A, Kjær, SK, Jensen, A, Høgdall, E, Bandera, EV, Olson, SH, King, MG, Rodriguez-Rodriguez, L, Kiemeney, LA, Marees, T, Massuger, LF, van Altena, AM, Ness, RB, Cramer, DW, Pike, MC, Pearce, CL, Berchuck, A, Schildkraut, JM, Whittemore, AS, and Ovarian Cancer Association Consortium, . "Tubal ligation and risk of ovarian cancer subtypes: a pooled analysis of case-control studies." International Journal of Epidemiology 42.2 (April 2013): 579-589.
PMID
23569193
Source
epmc
Published In
International Journal of Epidemiology
Volume
42
Issue
2
Publish Date
2013
Start Page
579
End Page
589
DOI
10.1093/ije/dyt042

Inherited variants in regulatory T cell genes and outcome of ovarian cancer.

Although ovarian cancer is the most lethal of gynecologic malignancies, wide variation in outcome following conventional therapy continues to exist. The presence of tumor-infiltrating regulatory T cells (Tregs) has a role in outcome of this disease, and a growing body of data supports the existence of inherited prognostic factors. However, the role of inherited variants in genes encoding Treg-related immune molecules has not been fully explored. We analyzed expression quantitative trait loci (eQTL) and sequence-based tagging single nucleotide polymorphisms (tagSNPs) for 54 genes associated with Tregs in 3,662 invasive ovarian cancer cases. With adjustment for known prognostic factors, suggestive results were observed among rarer histological subtypes; poorer survival was associated with minor alleles at SNPs in RGS1 (clear cell, rs10921202, p=2.7×10(-5)), LRRC32 and TNFRSF18/TNFRSF4 (mucinous, rs3781699, p=4.5×10(-4), and rs3753348, p=9.0×10(-4), respectively), and CD80 (endometrioid, rs13071247, p=8.0×10(-4)). Fo0r the latter, correlative data support a CD80 rs13071247 genotype association with CD80 tumor RNA expression (p=0.006). An additional eQTL SNP in CD80 was associated with shorter survival (rs7804190, p=8.1×10(-4)) among all cases combined. As the products of these genes are known to affect induction, trafficking, or immunosuppressive function of Tregs, these results suggest the need for follow-up phenotypic studies.

Authors
Goode, EL; DeRycke, M; Kalli, KR; Oberg, AL; Cunningham, JM; Maurer, MJ; Fridley, BL; Armasu, SM; Serie, DJ; Ramar, P; Goergen, K; Vierkant, RA; Rider, DN; Sicotte, H; Wang, C; Winterhoff, B; Phelan, CM; Schildkraut, JM; Weber, RP; Iversen, E; Berchuck, A; Sutphen, R; Birrer, MJ; Hampras, S; Preus, L; Gayther, SA; Ramus, SJ; Wentzensen, N; Yang, HP; Garcia-Closas, M; Song, H; Tyrer, J; Pharoah, PPD; Konecny, G; Sellers, TA; Ness, RB; Sucheston, LE; Odunsi, K; Hartmann, LC; Moysich, KB; Knutson, KL
MLA Citation
Goode, EL, DeRycke, M, Kalli, KR, Oberg, AL, Cunningham, JM, Maurer, MJ, Fridley, BL, Armasu, SM, Serie, DJ, Ramar, P, Goergen, K, Vierkant, RA, Rider, DN, Sicotte, H, Wang, C, Winterhoff, B, Phelan, CM, Schildkraut, JM, Weber, RP, Iversen, E, Berchuck, A, Sutphen, R, Birrer, MJ, Hampras, S, Preus, L, Gayther, SA, Ramus, SJ, Wentzensen, N, Yang, HP, Garcia-Closas, M, Song, H, Tyrer, J, Pharoah, PPD, Konecny, G, Sellers, TA, Ness, RB, Sucheston, LE, Odunsi, K, Hartmann, LC, Moysich, KB, and Knutson, KL. "Inherited variants in regulatory T cell genes and outcome of ovarian cancer." Plos One 8.1 (January 30, 2013): e53903-null.
PMID
23382860
Source
epmc
Published In
Plos One
Volume
8
Issue
1
Publish Date
2013
Start Page
e53903
DOI
10.1371/journal.pone.0053903

BRCA1 immunohistochemistry in a molecularly characterized cohort of ovarian high-grade serous carcinomas.

BRCA1 and BRCA2 dysfunction, frequently seen in high-grade serous ovarian carcinomas, often results from germline mutations, somatic mutations, and promoter methylation. Identification of tumors with BRCA defects has therapeutic and prognostic implications. Identifying germline BRCA mutations is also important given the increased risk for hereditary breast and ovarian carcinoma. Our goal was to assess whether immunohistochemical analysis (IHC) for BRCA1 is an effective method for the detection of BRCA1 dysfunction in molecularly characterized high-grade ovarian serous carcinoma. We identified 43 high-grade ovarian serous carcinomas with known events in BRCA1 and BRCA2 included in The Cancer Genome Atlas Project. BRCA1 stain was first assessed without knowledge of the BRCA status, and a semiquantitative assessment for intensity and amount of staining was performed. The stains were reevaluated and divided into 3 categories (retained, loss, and equivocal) on the basis of correlation with genotyping data. Presence of retained BRCA staining was considered normal, whereas the other patterns, including equivocal staining or loss of staining, were considered abnormal. Two pathologists, blinded to the BRCA status, then scored 2 sets of validation cases selected on the basis of available molecular data-1 with only germline mutation status available (n=31) and 1 with comprehensive genomic data (n=39). The pathologists agreed 88% of the time in the training set and 91% in the validation sets. In the training set, abnormal BRCA staining was seen in 24 cases, of which 21 (87%) showed BRCA1 genetic abnormalities, 1 showed BRCA2 mutations, and 2 showed no BRCA abnormalities. Abnormal BRCA1 staining was noted in all 5 cases with BRCA1 germline mutations, in 3 (60%) of 5 with BRCA1 somatic mutations, and in 13 (93%) of 14 with BRCA1 promoter methylation. The 2 validation sets included 70 additional patients, and all cases with germline BRCA1 mutations (n=11) showed abnormal BRCA1 staining. Tumors with BRCA1 promoter methylation also showed abnormal staining in 6 (86%) of 7 cases. In the entire study, no cases with BRCA1 germline mutation showed intact immunostaining (negative predictive value=100%). This study shows that BRCA1 IHC is well correlated with molecular events in ovarian carcinoma. Considering the high negative predictive value for germline mutations, BRCA1 IHC appears to be an effective approach to stratify patients for germline genetic testing and to detect other mechanisms of BRCA1 dysfunction in high-grade serous ovarian carcinomas.

Authors
Garg, K; Levine, DA; Olvera, N; Dao, F; Bisogna, M; Secord, AA; Berchuck, A; Cerami, E; Schultz, N; Soslow, RA
MLA Citation
Garg, K, Levine, DA, Olvera, N, Dao, F, Bisogna, M, Secord, AA, Berchuck, A, Cerami, E, Schultz, N, and Soslow, RA. "BRCA1 immunohistochemistry in a molecularly characterized cohort of ovarian high-grade serous carcinomas." The American Journal of Surgical Pathology 37.1 (January 2013): 138-146.
PMID
23232854
Source
epmc
Published In
The American Journal of Surgical Pathology
Volume
37
Issue
1
Publish Date
2013
Start Page
138
End Page
146
DOI
10.1097/PAS.0b013e31826cabbd

Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer.

HNF1B is overexpressed in clear cell epithelial ovarian cancer, and we observed epigenetic silencing in serous epithelial ovarian cancer, leading us to hypothesize that variation in this gene differentially associates with epithelial ovarian cancer risk according to histological subtype. Here we comprehensively map variation in HNF1B with respect to epithelial ovarian cancer risk and analyse DNA methylation and expression profiles across histological subtypes. Different single-nucleotide polymorphisms associate with invasive serous (rs7405776 odds ratio (OR)=1.13, P=3.1 × 10(-10)) and clear cell (rs11651755 OR=0.77, P=1.6 × 10(-8)) epithelial ovarian cancer. Risk alleles for the serous subtype associate with higher HNF1B-promoter methylation in these tumours. Unmethylated, expressed HNF1B, primarily present in clear cell tumours, coincides with a CpG island methylator phenotype affecting numerous other promoters throughout the genome. Different variants in HNF1B associate with risk of serous and clear cell epithelial ovarian cancer; DNA methylation and expression patterns are also notably distinct between these subtypes. These findings underscore distinct mechanisms driving different epithelial ovarian cancer histological subtypes.

Authors
Shen, H; Fridley, BL; Song, H; Lawrenson, K; Cunningham, JM; Ramus, SJ; Cicek, MS; Tyrer, J; Stram, D; Larson, MC; Köbel, M; PRACTICAL Consortium, ; Ziogas, A; Zheng, W; Yang, HP; Wu, AH; Wozniak, EL; Woo, YL; Winterhoff, B; Wik, E; Whittemore, AS; Wentzensen, N; Weber, RP; Vitonis, AF; Vincent, D; Vierkant, RA; Vergote, I; Van Den Berg, D; Van Altena, AM; Tworoger, SS; Thompson, PJ; Tessier, DC; Terry, KL; Teo, S-H; Templeman, C; Stram, DO; Southey, MC; Sieh, W; Siddiqui, N; Shvetsov, YB; Shu, X-O; Shridhar, V; Wang-Gohrke, S; Severi, G; Schwaab, I; Salvesen, HB; Rzepecka, IK; Runnebaum, IB; Rossing, MA; Rodriguez-Rodriguez, L; Risch, HA; Renner, SP; Poole, EM; Pike, MC; Phelan, CM; Pelttari, LM; Pejovic, T; Paul, J; Orlow, I; Omar, SZ; Olson, SH; Odunsi, K; Nickels, S; Nevanlinna, H; Ness, RB; Narod, SA; Nakanishi, T; Moysich, KB; Monteiro, ANA; Moes-Sosnowska, J; Modugno, F; Menon, U; McLaughlin, JR; McGuire, V; Matsuo, K; Adenan, NAM; Massuger, LFAG; Lurie, G; Lundvall, L; Lubiński, J; Lissowska, J; Levine, DA; Leminen, A; Lee, AW; Le, ND; Lambrechts, S; Lambrechts, D; Kupryjanczyk, J; Krakstad, C; Konecny, GE; Kjaer, SK; Kiemeney, LA; Kelemen, LE; Keeney, GL; Karlan, BY; Karevan, R; Kalli, KR; Kajiyama, H; Ji, B-T; Jensen, A; Jakubowska, A; Iversen, E; Hosono, S; Høgdall, CK; Høgdall, E; Hoatlin, M; Hillemanns, P; Heitz, F; Hein, R; Harter, P; Halle, MK; Hall, P; Gronwald, J; Gore, M; Goodman, MT; Giles, GG; Gentry-Maharaj, A; Garcia-Closas, M; Flanagan, JM; Fasching, PA; Ekici, AB; Edwards, R; Eccles, D; Easton, DF; Dürst, M; du Bois, A; Dörk, T; Doherty, JA; Despierre, E; Dansonka-Mieszkowska, A; Cybulski, C; Cramer, DW; Cook, LS; Chen, X; Charbonneau, B; Chang-Claude, J; Campbell, I; Butzow, R; Bunker, CH; Brueggmann, D; Brown, R; Brooks-Wilson, A; Brinton, LA; Bogdanova, N; Block, MS; Benjamin, E; Beesley, J; Beckmann, MW; Bandera, EV; Baglietto, L; Bacot, F; Armasu, SM; Antonenkova, N; Anton-Culver, H; Aben, KK; Liang, D; Wu, X; Lu, K; Hildebrandt, MAT; Australian Ovarian Cancer Study Group, ; Australian Cancer Study, ; Schildkraut, JM; Sellers, TA; Huntsman, D; Berchuck, A; Chenevix-Trench, G; Gayther, SA; Pharoah, PDP; Laird, PW; Goode, EL; Pearce, CL
MLA Citation
Shen, H, Fridley, BL, Song, H, Lawrenson, K, Cunningham, JM, Ramus, SJ, Cicek, MS, Tyrer, J, Stram, D, Larson, MC, Köbel, M, PRACTICAL Consortium, , Ziogas, A, Zheng, W, Yang, HP, Wu, AH, Wozniak, EL, Woo, YL, Winterhoff, B, Wik, E, Whittemore, AS, Wentzensen, N, Weber, RP, Vitonis, AF, Vincent, D, Vierkant, RA, Vergote, I, Van Den Berg, D, Van Altena, AM, Tworoger, SS, Thompson, PJ, Tessier, DC, Terry, KL, Teo, S-H, Templeman, C, Stram, DO, Southey, MC, Sieh, W, Siddiqui, N, Shvetsov, YB, Shu, X-O, Shridhar, V, Wang-Gohrke, S, Severi, G, Schwaab, I, Salvesen, HB, Rzepecka, IK, Runnebaum, IB, Rossing, MA, Rodriguez-Rodriguez, L, Risch, HA, Renner, SP, Poole, EM, Pike, MC, Phelan, CM, Pelttari, LM, Pejovic, T, Paul, J, Orlow, I, Omar, SZ, Olson, SH, Odunsi, K, Nickels, S, Nevanlinna, H, Ness, RB, Narod, SA, Nakanishi, T, Moysich, KB, Monteiro, ANA, Moes-Sosnowska, J, Modugno, F, Menon, U, McLaughlin, JR, McGuire, V, Matsuo, K, Adenan, NAM, Massuger, LFAG, Lurie, G, Lundvall, L, Lubiński, J, Lissowska, J, Levine, DA, Leminen, A, Lee, AW, Le, ND, Lambrechts, S, Lambrechts, D, Kupryjanczyk, J, Krakstad, C, Konecny, GE, Kjaer, SK, Kiemeney, LA, Kelemen, LE, Keeney, GL, Karlan, BY, Karevan, R, Kalli, KR, Kajiyama, H, Ji, B-T, Jensen, A, Jakubowska, A, Iversen, E, Hosono, S, Høgdall, CK, Høgdall, E, Hoatlin, M, Hillemanns, P, Heitz, F, Hein, R, Harter, P, Halle, MK, Hall, P, Gronwald, J, Gore, M, Goodman, MT, Giles, GG, Gentry-Maharaj, A, Garcia-Closas, M, Flanagan, JM, Fasching, PA, Ekici, AB, Edwards, R, Eccles, D, Easton, DF, Dürst, M, du Bois, A, Dörk, T, Doherty, JA, Despierre, E, Dansonka-Mieszkowska, A, Cybulski, C, Cramer, DW, Cook, LS, Chen, X, Charbonneau, B, Chang-Claude, J, Campbell, I, Butzow, R, Bunker, CH, Brueggmann, D, Brown, R, Brooks-Wilson, A, Brinton, LA, Bogdanova, N, Block, MS, Benjamin, E, Beesley, J, Beckmann, MW, Bandera, EV, Baglietto, L, Bacot, F, Armasu, SM, Antonenkova, N, Anton-Culver, H, Aben, KK, Liang, D, Wu, X, Lu, K, Hildebrandt, MAT, Australian Ovarian Cancer Study Group, , Australian Cancer Study, , Schildkraut, JM, Sellers, TA, Huntsman, D, Berchuck, A, Chenevix-Trench, G, Gayther, SA, Pharoah, PDP, Laird, PW, Goode, EL, and Pearce, CL. "Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer." Nature Communications 4 (January 2013): 1628-null.
PMID
23535649
Source
epmc
Published In
Nature Communications
Volume
4
Publish Date
2013
Start Page
1628
DOI
10.1038/ncomms2629

Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31.

Epithelial ovarian cancer (EOC) has a heritable component that remains to be fully characterized. Most identified common susceptibility variants lie in non-protein-coding sequences. We hypothesized that variants in the 3' untranslated region at putative microRNA (miRNA)-binding sites represent functional targets that influence EOC susceptibility. Here, we evaluate the association between 767 miRNA-related single-nucleotide polymorphisms (miRSNPs) and EOC risk in 18,174 EOC cases and 26,134 controls from 43 studies genotyped through the Collaborative Oncological Gene-environment Study. We identify several miRSNPs associated with invasive serous EOC risk (odds ratio=1.12, P=10(-8)) mapping to an inversion polymorphism at 17q21.31. Additional genotyping of non-miRSNPs at 17q21.31 reveals stronger signals outside the inversion (P=10(-10)). Variation at 17q21.31 is associated with neurological diseases, and our collaboration is the first to report an association with EOC susceptibility. An integrated molecular analysis in this region provides evidence for ARHGAP27 and PLEKHM1 as candidate EOC susceptibility genes.

Authors
Permuth-Wey, J; Lawrenson, K; Shen, HC; Velkova, A; Tyrer, JP; Chen, Z; Lin, H-Y; Chen, YA; Tsai, Y-Y; Qu, X; Ramus, SJ; Karevan, R; Lee, J; Lee, N; Larson, MC; Aben, KK; Anton-Culver, H; Antonenkova, N; Antoniou, AC; Armasu, SM; Australian Cancer Study, ; Australian Ovarian Cancer Study, ; Bacot, F; Baglietto, L; Bandera, EV; Barnholtz-Sloan, J; Beckmann, MW; Birrer, MJ; Bloom, G; Bogdanova, N; Brinton, LA; Brooks-Wilson, A; Brown, R; Butzow, R; Cai, Q; Campbell, I; Chang-Claude, J; Chanock, S; Chenevix-Trench, G; Cheng, JQ; Cicek, MS; Coetzee, GA; Consortium of Investigators of Modifiers of BRCA1/2, ; Cook, LS; Couch, FJ; Cramer, DW; Cunningham, JM; Dansonka-Mieszkowska, A; Despierre, E; Doherty, JA; Dörk, T; du Bois, A; Dürst, M; Easton, DF; Eccles, D; Edwards, R; Ekici, AB; Fasching, PA; Fenstermacher, DA; Flanagan, JM; Garcia-Closas, M; Gentry-Maharaj, A; Giles, GG; Glasspool, RM; Gonzalez-Bosquet, J; Goodman, MT; Gore, M; Górski, B; Gronwald, J; Hall, P; Halle, MK; Harter, P; Heitz, F; Hillemanns, P; Hoatlin, M; Høgdall, CK; Høgdall, E; Hosono, S; Jakubowska, A; Jensen, A; Jim, H; Kalli, KR; Karlan, BY; Kaye, SB; Kelemen, LE; Kiemeney, LA; Kikkawa, F; Konecny, GE; Krakstad, C; Kjaer, SK; Kupryjanczyk, J; Lambrechts, D; Lambrechts, S; Lancaster, JM; Le, ND; Leminen, A; Levine, DA; Liang, D; Lim, BK; Lin, J; Lissowska, J; Lu, KH; Lubiński, J; Lurie, G; Massuger, LFAG; Matsuo, K; McGuire, V; McLaughlin, JR; Menon, U; Modugno, F; Moysich, KB; Nakanishi, T; Narod, SA; Nedergaard, L; Ness, RB; Nevanlinna, H; Nickels, S; Noushmehr, H; Odunsi, K; Olson, SH; Orlow, I; Paul, J; Pearce, CL; Pejovic, T; Pelttari, LM; Pike, MC; Poole, EM; Raska, P; Renner, SP; Risch, HA; Rodriguez-Rodriguez, L; Rossing, MA; Rudolph, A; Runnebaum, IB; Rzepecka, IK; Salvesen, HB; Schwaab, I; Severi, G; Shridhar, V; Shu, X-O; Shvetsov, YB; Sieh, W; Song, H; Southey, MC; Spiewankiewicz, B; Stram, D; Sutphen, R; Teo, S-H; Terry, KL; Tessier, DC; Thompson, PJ; Tworoger, SS; van Altena, AM; Vergote, I; Vierkant, RA; Vincent, D; Vitonis, AF; Wang-Gohrke, S; Palmieri Weber, R; Wentzensen, N; Whittemore, AS; Wik, E; Wilkens, LR; Winterhoff, B; Woo, YL; Wu, AH; Xiang, Y-B; Yang, HP; Zheng, W; Ziogas, A; Zulkifli, F; Phelan, CM; Iversen, E; Schildkraut, JM; Berchuck, A; Fridley, BL; Goode, EL; Pharoah, PDP; Monteiro, ANA; Sellers, TA; Gayther, SA
MLA Citation
Permuth-Wey, J, Lawrenson, K, Shen, HC, Velkova, A, Tyrer, JP, Chen, Z, Lin, H-Y, Chen, YA, Tsai, Y-Y, Qu, X, Ramus, SJ, Karevan, R, Lee, J, Lee, N, Larson, MC, Aben, KK, Anton-Culver, H, Antonenkova, N, Antoniou, AC, Armasu, SM, Australian Cancer Study, , Australian Ovarian Cancer Study, , Bacot, F, Baglietto, L, Bandera, EV, Barnholtz-Sloan, J, Beckmann, MW, Birrer, MJ, Bloom, G, Bogdanova, N, Brinton, LA, Brooks-Wilson, A, Brown, R, Butzow, R, Cai, Q, Campbell, I, Chang-Claude, J, Chanock, S, Chenevix-Trench, G, Cheng, JQ, Cicek, MS, Coetzee, GA, Consortium of Investigators of Modifiers of BRCA1/2, , Cook, LS, Couch, FJ, Cramer, DW, Cunningham, JM, Dansonka-Mieszkowska, A, Despierre, E, Doherty, JA, Dörk, T, du Bois, A, Dürst, M, Easton, DF, Eccles, D, Edwards, R, Ekici, AB, Fasching, PA, Fenstermacher, DA, Flanagan, JM, Garcia-Closas, M, Gentry-Maharaj, A, Giles, GG, Glasspool, RM, Gonzalez-Bosquet, J, Goodman, MT, Gore, M, Górski, B, Gronwald, J, Hall, P, Halle, MK, Harter, P, Heitz, F, Hillemanns, P, Hoatlin, M, Høgdall, CK, Høgdall, E, Hosono, S, Jakubowska, A, Jensen, A, Jim, H, Kalli, KR, Karlan, BY, Kaye, SB, Kelemen, LE, Kiemeney, LA, Kikkawa, F, Konecny, GE, Krakstad, C, Kjaer, SK, Kupryjanczyk, J, Lambrechts, D, Lambrechts, S, Lancaster, JM, Le, ND, Leminen, A, Levine, DA, Liang, D, Lim, BK, Lin, J, Lissowska, J, Lu, KH, Lubiński, J, Lurie, G, Massuger, LFAG, Matsuo, K, McGuire, V, McLaughlin, JR, Menon, U, Modugno, F, Moysich, KB, Nakanishi, T, Narod, SA, Nedergaard, L, Ness, RB, Nevanlinna, H, Nickels, S, Noushmehr, H, Odunsi, K, Olson, SH, Orlow, I, Paul, J, Pearce, CL, Pejovic, T, Pelttari, LM, Pike, MC, Poole, EM, Raska, P, Renner, SP, Risch, HA, Rodriguez-Rodriguez, L, Rossing, MA, Rudolph, A, Runnebaum, IB, Rzepecka, IK, Salvesen, HB, Schwaab, I, Severi, G, Shridhar, V, Shu, X-O, Shvetsov, YB, Sieh, W, Song, H, Southey, MC, Spiewankiewicz, B, Stram, D, Sutphen, R, Teo, S-H, Terry, KL, Tessier, DC, Thompson, PJ, Tworoger, SS, van Altena, AM, Vergote, I, Vierkant, RA, Vincent, D, Vitonis, AF, Wang-Gohrke, S, Palmieri Weber, R, Wentzensen, N, Whittemore, AS, Wik, E, Wilkens, LR, Winterhoff, B, Woo, YL, Wu, AH, Xiang, Y-B, Yang, HP, Zheng, W, Ziogas, A, Zulkifli, F, Phelan, CM, Iversen, E, Schildkraut, JM, Berchuck, A, Fridley, BL, Goode, EL, Pharoah, PDP, Monteiro, ANA, Sellers, TA, and Gayther, SA. "Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31." Nature Communications 4 (January 2013): 1627-null.
PMID
23535648
Source
epmc
Published In
Nature Communications
Volume
4
Publish Date
2013
Start Page
1627
DOI
10.1038/ncomms2613

ABCB1 (MDR1) polymorphisms and ovarian cancer progression and survival: A comprehensive analysis from the Ovarian Cancer Association Consortium and the Cancer Genome Atlas

Objective. ABCB1 encodes the multi-drug efflux pump P-glycoprotein (P-gp) and has been implicated in multi-drug resistance.We comprehensively evaluated this gene and flanking regions for an associationwith clinical outcome in epithelial ovarian cancer (EOC). Methods. The best candidates from fine-mapping analysis of 21 ABCB1 SNPs tagging C1236T (rs1128503), G2677T/A (rs2032582), and C3435T (rs1045642) were analysed in 4616 European invasive EOC patients from thirteen Ovarian Cancer Association Consortium(OCAC) studies and The Cancer Genome Atlas (TCGA). Additionally we analysed 1,562 imputed SNPs around ABCB1 in patients receiving cytoreductive surgery and either 'standard' first-line paclitaxel-carboplatin chemotherapy (n = 1158) or any first-line chemotherapy regimen (n = 2867). We also evaluated ABCB1 expression in primary tumours from 143 EOC patients. Result. Fine-mapping revealed that rs1128503, rs2032582, and rs1045642were the best candidates in optimally debulked patients. However, we observed no significant association between any SNP and either progression-free survivaloroverall survival inanalysis ofdata from14 studies. There was a marginal association between rs1128503 and overall survival in patients with nil residual disease (HR 0.88, 95% CI 0.77-1.01; p = 0.07). In contrast, ABCB1 expression in the primary tumour may confer worse prognosis in patients with sub-optimally debulked tumours. Conclusion. Our study represents the largest analysis of ABCB1 SNPs and EOC progression and survival to date, but has not identified additional signals, or validated reported associations with progression-free survival for rs1128503, rs2032582, and rs1045642. However, we cannot rule out the possibility of a subtle effect of rs1128503, or other SNPs linked to it, on overall survival. © 2013 The Authors. Published by Elsevier Inc. All rights reserved.

Authors
Johnatty, SE; Beesley, J; Gao, B; Chen, X; Lu, Y; Law, MH; Henderson, MJ; Russell, AJ; Hedditch, EL; Emmanuel, C; al, E
MLA Citation
Johnatty, SE, Beesley, J, Gao, B, Chen, X, Lu, Y, Law, MH, Henderson, MJ, Russell, AJ, Hedditch, EL, Emmanuel, C, and al, E. "ABCB1 (MDR1) polymorphisms and ovarian cancer progression and survival: A comprehensive analysis from the Ovarian Cancer Association Consortium and the Cancer Genome Atlas." Gynecologic Oncology 131.1 (2013): 8-14.
Source
scival
Published In
Gynecologic Oncology
Volume
131
Issue
1
Publish Date
2013
Start Page
8
End Page
14
DOI
10.1016/j.ygyno.2013.07.107

Gene expression analysis of early stage endometrial cancers reveals unique transcripts associated with grade and histology but not depth of invasion.

Endometrial cancer is the most common gynecologic malignancy in the United States but it remains poorly understood at the molecular level. This investigation was conducted to specifically assess whether gene expression changes underlie the clinical and pathologic factors traditionally used for determining treatment regimens in women with stage I endometrial cancer. These include the effect of tumor grade, depth of myometrial invasion and histotype. We utilized oligonucleotide microarrays to assess the transcript expression profile in epithelial glandular cells laser microdissected from 79 endometrioid and 12 serous stage I endometrial cancers with a heterogeneous distribution of grade and depth of myometrial invasion, along with 12 normal post-menopausal endometrial samples. Unsupervised multidimensional scaling analyses revealed that serous and endometrioid stage I cancers have similar transcript expression patterns when compared to normal controls where 900 transcripts were identified to be differentially expressed by at least fourfold (univariate t-test, p < 0.001) between the cancers and normal endometrium. This analysis also identified transcript expression differences between serous and endometrioid cancers and tumor grade, but no apparent differences were identified as a function of depth of myometrial invasion. Four genes were validated by quantitative PCR on an independent set of cancer and normal endometrium samples. These findings indicate that unique gene expression profiles are associated with histologic type and grade, but not myometrial invasion among early stage endometrial cancers. These data provide a comprehensive perspective on the molecular alterations associated with stage I endometrial cancer, particularly those subtypes that have the worst prognosis.

Authors
Risinger, JI; Allard, J; Chandran, U; Day, R; Chandramouli, GVR; Miller, C; Zahn, C; Oliver, J; Litzi, T; Marcus, C; Dubil, E; Byrd, K; Cassablanca, Y; Becich, M; Berchuck, A; Darcy, KM; Hamilton, CA; Conrads, TP; Maxwell, GL
MLA Citation
Risinger, JI, Allard, J, Chandran, U, Day, R, Chandramouli, GVR, Miller, C, Zahn, C, Oliver, J, Litzi, T, Marcus, C, Dubil, E, Byrd, K, Cassablanca, Y, Becich, M, Berchuck, A, Darcy, KM, Hamilton, CA, Conrads, TP, and Maxwell, GL. "Gene expression analysis of early stage endometrial cancers reveals unique transcripts associated with grade and histology but not depth of invasion. (Published online)" Front Oncol 3 (2013): 139-.
PMID
23785665
Source
pubmed
Published In
Frontiers in Oncology
Volume
3
Publish Date
2013
Start Page
139
DOI
10.3389/fonc.2013.00139

Timing of end-of-life care discussion with performance on end-of-life quality indicators in ovarian cancer

Objectives (1) To describe the prevalence, timing and setting of documented end-of-life (EOL) discussions in patients with advanced ovarian cancer; and (2) to assess the impact of timing and setting of documented end-of-life discussions on EOL quality care measures. Methods A retrospective study of women who died of ovarian cancer diagnosed between 1999 and 2008 was conducted. The following are the EOL quality measures assessed: chemotherapy in the last 14 days of life, > 1 hospitalization in the last 30 days, > 1 ER visit in the last 30 days, intensive care unit (ICU) admission in the last 30 days, dying in an acute care setting, admitted to hospice ≤ 3 days. Results One hundred seventy-seven (80%) patients had documented end-of-life discussions. Median interval from EOL discussion until death was 29 days. Seventy-eight patients (44%) had EOL discussions as outpatient and 99 (56%) as inpatient. Sixty-four out of 220 (29%) patients' care did not conform to at least one EOL quality measure. An EOL discussion at least 30 days before death was associated with a lower incidence of: chemotherapy in the last 14 days of life (p = 0.003), > 1 hospitalization in the last 30 days (p < 0.001), ICU admission in the last 30 days (p = 0.005), dying in acute care setting (p = 0.01), admitted to hospice ≤ 3 days (p = 0.02). EOL discussion as outpatient was associated with fewer patients hospitalized > 1 in the last 30 days of life (p < 0.001). Conclusions End-of-life care discussions are occurring too late in the disease process. Conformance with EOL quality measures can be achieved with earlier end-of-life care discussions. © 2013 Elsevier Inc.

Authors
Lopez-Acevedo, M; Havrilesky, LJ; Broadwater, G; Kamal, AH; Abernethy, AP; Berchuck, A; Secord, AA; Tulsky, JA; Valea, F; Lee, PS
MLA Citation
Lopez-Acevedo, M, Havrilesky, LJ, Broadwater, G, Kamal, AH, Abernethy, AP, Berchuck, A, Secord, AA, Tulsky, JA, Valea, F, and Lee, PS. "Timing of end-of-life care discussion with performance on end-of-life quality indicators in ovarian cancer." Gynecologic Oncology 130.1 (2013): 156-161.
Source
scival
Published In
Gynecologic Oncology
Volume
130
Issue
1
Publish Date
2013
Start Page
156
End Page
161
DOI
10.1016/j.ygyno.2013.04.010

Transcript expression in endometrial cancers from Black and White patients

Objective Previous studies suggest that differences in molecular features of endometrial cancers between racial groups may contribute to the poorer survival in Blacks. The objective of this investigation was to determine whether gene expression among endometrial cancers is different between Blacks and Whites. Methods Fresh frozen tumors from 25 Black patients were matched by stage, grade, and histology to endometrial cancer specimens from 25 White patients. Each case was macrodissected to produce specimens possessing a minimum of 75% cancer cellularity. A subset of 10 matched pairs was also prepared using laser microdissection (LMD) to produce specimens possessing a minimum of 95% cancer cells. Total RNA isolated from each sample was analyzed using the Affymetrix Human Genome U133 Plus 2.0 arrays. Data were analyzed using principal component analysis and binary class comparison analyses. Results Unsupervised analysis of the 50 endometrial cancers failed to identify global gene expression profiles unique to Black or White patients. In a subset analysis of 10 matched pairs from Blacks and Whites prepared using LMD and macrodissection, unsupervised analysis did not reveal a unique gene expression profile associated with race in either set, but associations were identified that relate to sample preparation technique, histology and stage. Conclusions Our microarray data revealed no global gene expression differences and identified few individual gene differences between endometrial cancers from Blacks and Whites. More comprehensive methods of transcriptome analysis could uncover RNAs that may underpin the disparity of outcome or prevalence of endometrial cancers in Blacks and Whites. © 2013 Elsevier Inc.

Authors
Maxwell, GL; Allard, J; Gadisetti, CVR; Litzi, T; Casablanca, Y; Chandran, U; Darcy, KM; Levine, DA; Berchuck, A; Hamilton, CA; Conrads, TP; Risinger, JI
MLA Citation
Maxwell, GL, Allard, J, Gadisetti, CVR, Litzi, T, Casablanca, Y, Chandran, U, Darcy, KM, Levine, DA, Berchuck, A, Hamilton, CA, Conrads, TP, and Risinger, JI. "Transcript expression in endometrial cancers from Black and White patients." Gynecologic Oncology 130.1 (2013): 169-173.
Source
scival
Published In
Gynecologic Oncology
Volume
130
Issue
1
Publish Date
2013
Start Page
169
End Page
173
DOI
10.1016/j.ygyno.2013.04.017

Validation of ovarian cancer gene expression signatures for survival and subtype in formalin fixed paraffin embedded tissues

Introduction Gene expression signatures have been identified for epithelial ovarian cancer survival (TCGA) and intrinsic subtypes (Tothill et al.). One obstacle to clinical translation is that these signatures were developed using frozen tissue, whereas usually only formalin-fixed, paraffin embedded (FFPE) tissue is available. The aim of this study was to determine if gene expression signatures can be translated to fixed archival tissues. Methods RNA extracted from FFPE sections from 240 primary ovarian cancers was analyzed by DASL on Illumina BeadChip arrays. Concordance of expression at the individual gene level was assessed by comparing array data from the same cancers (30 frozen samples analyzed on Affymetrix arrays versus FFPE DASL). Results The correlation between FFPE and frozen survival signature estimates was 0.774. The TCGA signature using DASL was predictive of survival in 106 advanced stage high grade serous ovarian cancers (median survival 33 versus 60 months, estimated hazard ratio for death 2.30, P = 0.0007). Similar to Tothill, we found using DASL that most high grade serous ovarian cancers (102/110, 93%) were assigned to subtypes 1, 2, 4 and 5, whereas most endometrioid, clear cell, mucinous and low grade serous cases (39/57, 68%) were assigned to subtypes 3 and 6 (P < 10e-15). Conclusions Although individual probe estimates of microarrays may be weakly correlated between FFPE and frozen samples, combinations of probes have robust ability to predict survival and subtype. This suggests that it may be possible to use these signatures for prognostic and predictive purposes as we seek to individualize the treatment of ovarian cancer. © 2012 Elsevier Inc.

Authors
Sfakianos, GP; Iversen, ES; Whitaker, R; Akushevich, L; Schildkraut, JM; Murphy, SK; Marks, JR; Berchuck, A
MLA Citation
Sfakianos, GP, Iversen, ES, Whitaker, R, Akushevich, L, Schildkraut, JM, Murphy, SK, Marks, JR, and Berchuck, A. "Validation of ovarian cancer gene expression signatures for survival and subtype in formalin fixed paraffin embedded tissues." Gynecologic Oncology 129.1 (2013): 159-164.
Source
scival
Published In
Gynecologic Oncology
Volume
129
Issue
1
Publish Date
2013
Start Page
159
End Page
164
DOI
10.1016/j.ygyno.2012.12.030

Predictors of failure to perform pelvic peritoneal cytology in endometrial cancer staging surgery

Authors
Lopez-Acevedo, M; Zhang, C; Secord, AA; Lee, PS; Havrilesky, LJ; Berchuck, A
MLA Citation
Lopez-Acevedo, M, Zhang, C, Secord, AA, Lee, PS, Havrilesky, LJ, and Berchuck, A. "Predictors of failure to perform pelvic peritoneal cytology in endometrial cancer staging surgery." JOURNAL OF CLINICAL ONCOLOGY 30.34 (December 1, 2012).
Source
wos-lite
Published In
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
Volume
30
Issue
34
Publish Date
2012
DOI
10.1200/jco.2012.30.34_suppl.201

Predictors of failure to perform pelvic peritoneal cytology in endometrial cancer staging surgery.

201 Background: The Federation of Gynecology and Obstetrics (FIGO) staging system and the National Comprehensive Cancer Network (NCCN) guidelines for endometrial cancer recommend performing pelvic peritoneal cytology to look for the presence of cancer cells in the peritoneal cavity in patients who are undergoing surgical staging of apparent non-metastatic disease. About 10% of cases have positive cytology and this information is used in formulating plans for adjuvant therapy. However, adherence to the guidelines recommending that cytology be performed is not universal. In this study, we sought to identify factors associated with failure to perform pelvic peritoneal cytology at the time of endometrial cancer staging surgery.We performed a retrospective study of women with FIGO stage I/II endometrial adenocarcinoma who underwent endometrial cancer staging surgery at our institution from 1993-2007. Predictors of failure to perform cytology that were investigated included: surgeon, presence of adhesions, intraoperative blood loss and conversion from laparoscopy to laparotomy.Among 1,112 cases, peritoneal cytology was not performed in 76 (6.8%). In 30 cases cytology was not performed for valid reasons including 15 in which the surgery was performed vaginally, 10 in which the diagnosis of endometrial cancer was not known prior to surgery and 5 in which gross evidence of stage III/IV disease was found at surgery. Of the remaining 46 cases, 11 (23.9%) had surgery that was converted from laparoscopy to laparotomy, 16 (34.8%) had dense pelvic adhesions and 40 (87.0%) had an estimated blood loss greater than 100 ml. The frequency of these and other risk factors will be compared to that seen in a matched cohort of patients who did have pelvic peritoneal cytology performed.Our analysis will investigate predictors of failure to perform pelvic peritoneal cytology. Increased awareness of these factors has the potential to improve compliance with this accepted procedure that plays a role in planning adjuvant therapy for early stage endometrial cancer.

Authors
Zhang, C; Secord, AA; Lee, PS; Havrilesky, LJ; Berchuck, A
MLA Citation
Zhang, C, Secord, AA, Lee, PS, Havrilesky, LJ, and Berchuck, A. "Predictors of failure to perform pelvic peritoneal cytology in endometrial cancer staging surgery." Journal of clinical oncology : official journal of the American Society of Clinical Oncology 30.34_suppl (December 2012): 201-.
PMID
28147010
Source
epmc
Published In
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
Volume
30
Issue
34_suppl
Publish Date
2012
Start Page
201

A phase I trial of dasatinib, an SRC-family kinase inhibitor, in combination with paclitaxel and carboplatin in patients with advanced or recurrent ovarian cancer.

PURPOSE: We conducted a phase I study of dasatinib, an oral SRC-family tyrosine kinase inhibitor, in combination with paclitaxel and carboplatin in the treatment of advanced and recurrent epithelial ovarian cancer. EXPERIMENTAL DESIGN: The primary objective was to determine the maximum tolerated dose (MTD). Secondary objectives included defining toxicity, response rate (RR), pharmacokinetics, and pharmacodynamics. Using a "3+3" design, cohorts of three to six patients received paclitaxel (175 mg/m(2)) and carboplatin (AUC 6) every 3 weeks with escalating doses of dasatinib (100, 120, and 150 mg daily), followed by an eight-patient expansion cohort. RESULTS: Twenty patients were enrolled between June 2007 and December 2009. The median age was 61 years (range: 42-82) with a median of 2 prior regimens (range: 0-6), and 71% had platinum-sensitive disease. There were three to six patients in each cohort, and eight in the expansion cohort. Pharmacokinetics were observed over the first two cycles of therapy. One DLT was observed in the 100 mg dasatinib cohort (grade 3 myalgia). Other toxicities in all cycles included neutropenia (95% grade 3-4; 91% in the 150 mg dosing cohort), thrombocytopenia (35% grade 3-4), and fatigue (10% grade 3). The RR was 40% [three complete responses, (15%); five partial responses, (25%)],10 patients (50%) had stable disease, and two were not evaluable. The PFS(6-month) actuarial estimate was 86%. The median PFS and OS were 7.8 and 16.2 months, respectively. CONCLUSIONS: Due to the high incidence of myelosuppression with subsequent cycles, the recommended phase II dose of dasatinib is 150 mg daily in combination with paclitaxel and carboplatin. The combination was safe with evidence of clinical activity.

Authors
Secord, AA; Teoh, DK; Barry, WT; Yu, M; Broadwater, G; Havrilesky, LJ; Lee, PS; Berchuck, A; Lancaster, J; Wenham, RM
MLA Citation
Secord, AA, Teoh, DK, Barry, WT, Yu, M, Broadwater, G, Havrilesky, LJ, Lee, PS, Berchuck, A, Lancaster, J, and Wenham, RM. "A phase I trial of dasatinib, an SRC-family kinase inhibitor, in combination with paclitaxel and carboplatin in patients with advanced or recurrent ovarian cancer." Clin Cancer Res 18.19 (October 1, 2012): 5489-5498.
PMID
22837181
Source
pubmed
Published In
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
Volume
18
Issue
19
Publish Date
2012
Start Page
5489
End Page
5498
DOI
10.1158/1078-0432.CCR-12-0507

Genetic testing in ovarian cancer: getting better, and maybe not just for disease susceptibility anymore.

Authors
Berchuck, A
MLA Citation
Berchuck, A. "Genetic testing in ovarian cancer: getting better, and maybe not just for disease susceptibility anymore." Obstetrics and Gynecology 120.2 Pt 1 (August 2012): 221-222.
PMID
22825078
Source
epmc
Published In
Obstetrics and Gynecology
Volume
120
Issue
2 Pt 1
Publish Date
2012
Start Page
221
End Page
222
DOI
10.1097/aog.0b013e3182602599

A multicenter, randomized, phase 2 clinical trial to evaluate the efficacy and safety of combination docetaxel and carboplatin and sequential therapy with docetaxel then carboplatin in patients with recurrent platinum-sensitive ovarian cancer.

BACKGROUND: The aim of this randomized clinical trial was to evaluate the efficacy and safety of combination (cDC) and sequential (sDC) weekly docetaxel and carboplatin in women with recurrent platinum-sensitive epithelial ovarian cancer (EOC). METHODS: Participants were randomized to either weekly docetaxel 30 mg/m(2) on days 1 and 8 and carboplatin area under the curve (AUC) = 6 on day 1, every 3 weeks or docetaxel 30 mg/m(2) on days 1 and 8, every 3 weeks for 6 cycles followed by carboplatin AUC = 6 on day 1, every 3 weeks for 6 cycles or until disease progression. The primary endpoint was measurable progression-free survival (PFS). RESULTS: Between January 2004 and March 2007, 150 participants were enrolled. The response rate was 55.4% and 43.2% for those treated with cDC and sDC, respectively. The median PFS was 13.7 months (95% confidence interval [CI], 9.9-16.8) for cDC and 8.4 months (95% CI, 7.1-11.0) for sDC. On the basis of an exploratory analysis, patients treated with sDC were at a 62% increased risk of disease progression compared to those treated with cDC (hazard ratio = 1.62; 95% CI, 1.08-2.45; P = .02). The median overall survival time was similar in both groups (33.2 and 30.1 months, P = .2). The incidence of grade 2 or 3 neurotoxicity and grade 3 or 4 neutropenia was higher with cDC than with sDC (11.7% vs 8.5%; 36.8% vs 11.3%). The sDC group demonstrated significant improvements in the Functional Assessment for Cancer Therapy-Ovarian, Quality of Life Trial Outcome Index scores compared with the combination cohort (P = .013). CONCLUSIONS: Both cDC and sDC regimens have activity in recurrent platinum-sensitive EOC with acceptable toxicity profiles. The cDC regimen may provide a PFS advantage over sDC.

Authors
Alvarez Secord, A; Berchuck, A; Higgins, RV; Nycum, LR; Kohler, MF; Puls, LE; Holloway, RW; Lewandowski, GS; Valea, FA; Havrilesky, LJ
MLA Citation
Alvarez Secord, A, Berchuck, A, Higgins, RV, Nycum, LR, Kohler, MF, Puls, LE, Holloway, RW, Lewandowski, GS, Valea, FA, and Havrilesky, LJ. "A multicenter, randomized, phase 2 clinical trial to evaluate the efficacy and safety of combination docetaxel and carboplatin and sequential therapy with docetaxel then carboplatin in patients with recurrent platinum-sensitive ovarian cancer." Cancer 118.13 (July 1, 2012): 3283-3293.
PMID
22072307
Source
pubmed
Published In
Cancer
Volume
118
Issue
13
Publish Date
2012
Start Page
3283
End Page
3293
DOI
10.1002/cncr.26610

Abstract LB-87: Methylated-mediated repression of ZNF154 in ovarian cancer is associated with poor overall survival

Authors
Okamoto, T; Yamaguchi, K; Huang, Z; Whitaker, R; Konishi, I; Berchuck, A; Murphy, SK
MLA Citation
Okamoto, T, Yamaguchi, K, Huang, Z, Whitaker, R, Konishi, I, Berchuck, A, and Murphy, SK. "Abstract LB-87: Methylated-mediated repression of ZNF154 in ovarian cancer is associated with poor overall survival." Cancer Research 72.8 Supplement (April 15, 2012): LB-87-LB-87.
Source
crossref
Published In
Cancer Research
Volume
72
Issue
8 Supplement
Publish Date
2012
Start Page
LB-87
End Page
LB-87
DOI
10.1158/1538-7445.AM2012-LB-87

Abstract 5363: Aggregation rather than monoclonal expansion explains ovarian cancer spheroid formation

Authors
Huang, Z; Lowery, WJ; Berchuck, A; Murphy, SK
MLA Citation
Huang, Z, Lowery, WJ, Berchuck, A, and Murphy, SK. "Abstract 5363: Aggregation rather than monoclonal expansion explains ovarian cancer spheroid formation." Cancer Research 72.8 Supplement (April 15, 2012): 5363-5363.
Source
crossref
Published In
Cancer Research
Volume
72
Issue
8 Supplement
Publish Date
2012
Start Page
5363
End Page
5363
DOI
10.1158/1538-7445.AM2012-5363

Abstract 2603: Subtype-specific ovarian cancer risk associated with SNPs in IL1A :

Authors
Charbonneau, B; White, KL; Schildkraut, JM; Palmieri, RT; Iversen, E; Berchuck, A; Vierkant, RA; Rider, DN; Cicek, MS; Sutphen, R; Birrer, MJ; Pharoah, PP; Song, H; Tyrer, J; Gayther, SA; Ramus, SJ; Wentzensen, N; Yang, HP; Garcia-Closas, M; Phelan, CM; Cunningham, JM; Fridley, BL; Sellers, TA; Goode, EL
MLA Citation
Charbonneau, B, White, KL, Schildkraut, JM, Palmieri, RT, Iversen, E, Berchuck, A, Vierkant, RA, Rider, DN, Cicek, MS, Sutphen, R, Birrer, MJ, Pharoah, PP, Song, H, Tyrer, J, Gayther, SA, Ramus, SJ, Wentzensen, N, Yang, HP, Garcia-Closas, M, Phelan, CM, Cunningham, JM, Fridley, BL, Sellers, TA, and Goode, EL. "Abstract 2603: Subtype-specific ovarian cancer risk associated with SNPs in IL1A :." Cancer Research 72.8 Supplement (April 15, 2012): 2603-2603.
Source
crossref
Published In
Cancer Research
Volume
72
Issue
8 Supplement
Publish Date
2012
Start Page
2603
End Page
2603
DOI
10.1158/1538-7445.AM2012-2603

The influence of radiation modality and lymph node dissection on survival in early-stage endometrial cancer.

BACKGROUND: The appropriate uses of lymph node dissection (LND) and adjuvant radiation therapy (RT) for Stage I endometrial cancer are controversial. We explored the impact of specific RT modalities (whole pelvic RT [WPRT], vaginal brachytherapy [VB]) and LND status on survival. MATERIALS AND METHODS: The Surveillance Epidemiology and End Results dataset was queried for all surgically treated International Federation of Gynecology and Obstetrics (FIGO) Stage I endometrial cancers; subjects were stratified into low, intermediate and high risk cohorts using modifications of Gynecologic Oncology Group (GOG) protocol 99 and PORTEC (Postoperative Radiation Therapy in Endometrial Cancer) trial criteria. Five-year overall survival was estimated, and comparisons were performed via the log-rank test. RESULTS: A total of 56,360 patients were identified: 70.4% low, 26.2% intermediate, and 3.4% high risk. A total of 41.6% underwent LND and 17.6% adjuvant RT. In low-risk disease, LND was associated with higher survival (93.7 LND vs. 92.7% no LND, p < 0.001), whereas RT was not (91.6% RT vs. 92.9% no RT, p = 0.23). In intermediate-risk disease, LND (82.1% LND vs. 76.5% no LND, p < 0.001) and RT (80.6% RT vs. 74.9% no RT, p < 0.001) were associated with higher survival without differences between RT modalities. In high-risk disease, LND (68.8% LND vs. 54.1% no LND, p < 0.001) and RT (66.9% RT vs. 57.2% no RT, p < 0.001) were associated with increased survival; if LND was not performed, VB alone was inferior to WPRT (p = 0.01). CONCLUSION: Both WPRT and VB alone are associated with increased survival in the intermediate-risk group. In the high-risk group, in the absence of LND, only WPRT is associated with increased survival. LND was also associated with increased survival.

Authors
Chino, JP; Jones, E; Berchuck, A; Secord, AA; Havrilesky, LJ
MLA Citation
Chino, JP, Jones, E, Berchuck, A, Secord, AA, and Havrilesky, LJ. "The influence of radiation modality and lymph node dissection on survival in early-stage endometrial cancer." Int J Radiat Oncol Biol Phys 82.5 (April 1, 2012): 1872-1879.
PMID
21640502
Source
pubmed
Published In
Int J Radiat Oncol Biol Phys
Volume
82
Issue
5
Publish Date
2012
Start Page
1872
End Page
1879
DOI
10.1016/j.ijrobp.2011.03.054

Association between endometriosis and risk of histological subtypes of ovarian cancer: a pooled analysis of case-control studies.

BACKGROUND:Endometriosis is a risk factor for epithelial ovarian cancer; however, whether this risk extends to all invasive histological subtypes or borderline tumours is not clear. We undertook an international collaborative study to assess the association between endometriosis and histological subtypes of ovarian cancer. METHODS:Data from 13 ovarian cancer case-control studies, which were part of the Ovarian Cancer Association Consortium, were pooled and logistic regression analyses were undertaken to assess the association between self-reported endometriosis and risk of ovarian cancer. Analyses of invasive cases were done with respect to histological subtypes, grade, and stage, and analyses of borderline tumours by histological subtype. Age, ethnic origin, study site, parity, and duration of oral contraceptive use were included in all analytical models. FINDINGS:13 226 controls and 7911 women with invasive ovarian cancer were included in this analysis. 818 and 738, respectively, reported a history of endometriosis. 1907 women with borderline ovarian cancer were also included in the analysis, and 168 of these reported a history of endometriosis. Self-reported endometriosis was associated with a significantly increased risk of clear-cell (136 [20·2%] of 674 cases vs 818 [6·2%] of 13 226 controls, odds ratio 3·05, 95% CI 2·43-3·84, p<0·0001), low-grade serous (31 [9·2%] of 336 cases, 2·11, 1·39-3·20, p<0·0001), and endometrioid invasive ovarian cancers (169 [13·9%] of 1220 cases, 2·04, 1·67-2·48, p<0·0001). No association was noted between endometriosis and risk of mucinous (31 [6·0%] of 516 cases, 1·02, 0·69-1·50, p=0·93) or high-grade serous invasive ovarian cancer (261 [7·1%] of 3659 cases, 1·13, 0·97-1·32, p=0·13), or borderline tumours of either subtype (serous 103 [9·0%] of 1140 cases, 1·20, 0·95-1·52, p=0·12, and mucinous 65 [8·5%] of 767 cases, 1·12, 0·84-1·48, p=0·45). INTERPRETATION:Clinicians should be aware of the increased risk of specific subtypes of ovarian cancer in women with endometriosis. Future efforts should focus on understanding the mechanisms that might lead to malignant transformation of endometriosis so as to help identify subsets of women at increased risk of ovarian cancer. FUNDING:Ovarian Cancer Research Fund, National Institutes of Health, California Cancer Research Program, California Department of Health Services, Lon V Smith Foundation, European Community's Seventh Framework Programme, German Federal Ministry of Education and Research of Germany, Programme of Clinical Biomedical Research, German Cancer Research Centre, Eve Appeal, Oak Foundation, UK National Institute of Health Research, National Health and Medical Research Council of Australia, US Army Medical Research and Materiel Command, Cancer Council Tasmania, Cancer Foundation of Western Australia, Mermaid 1, Danish Cancer Society, and Roswell Park Alliance Foundation.

Authors
Pearce, CL; Templeman, C; Rossing, MA; Lee, A; Near, AM; Webb, PM; Nagle, CM; Doherty, JA; Cushing-Haugen, KL; Wicklund, KG; Chang-Claude, J; Hein, R; Lurie, G; Wilkens, LR; Carney, ME; Goodman, MT; Moysich, K; Kjaer, SK; Hogdall, E; Jensen, A; Goode, EL; Fridley, BL; Larson, MC; Schildkraut, JM; Palmieri, RT; Cramer, DW; Terry, KL; Vitonis, AF; Titus, LJ; Ziogas, A; Brewster, W; Anton-Culver, H; Gentry-Maharaj, A; Ramus, SJ; Anderson, AR; Brueggmann, D; Fasching, PA; Gayther, SA; Huntsman, DG; Menon, U; Ness, RB; Pike, MC; Risch, H; Wu, AH; Berchuck, A; Ovarian Cancer Association Consortium,
MLA Citation
Pearce, CL, Templeman, C, Rossing, MA, Lee, A, Near, AM, Webb, PM, Nagle, CM, Doherty, JA, Cushing-Haugen, KL, Wicklund, KG, Chang-Claude, J, Hein, R, Lurie, G, Wilkens, LR, Carney, ME, Goodman, MT, Moysich, K, Kjaer, SK, Hogdall, E, Jensen, A, Goode, EL, Fridley, BL, Larson, MC, Schildkraut, JM, Palmieri, RT, Cramer, DW, Terry, KL, Vitonis, AF, Titus, LJ, Ziogas, A, Brewster, W, Anton-Culver, H, Gentry-Maharaj, A, Ramus, SJ, Anderson, AR, Brueggmann, D, Fasching, PA, Gayther, SA, Huntsman, DG, Menon, U, Ness, RB, Pike, MC, Risch, H, Wu, AH, Berchuck, A, and Ovarian Cancer Association Consortium, . "Association between endometriosis and risk of histological subtypes of ovarian cancer: a pooled analysis of case-control studies." The Lancet. Oncology 13.4 (April 2012): 385-394.
PMID
22361336
Source
epmc
Published In
The Lancet. Oncology
Volume
13
Issue
4
Publish Date
2012
Start Page
385
End Page
394
DOI
10.1016/S1470-2045(11)70404-1

Role of common genetic variants in ovarian cancer susceptibility and outcome: progress to date from the Ovarian Cancer Association Consortium (OCAC).

In this article, we review the current knowledge of the inherited genetics of epithelial ovarian cancer (EOC) susceptibility and clinical outcome. We focus on recent developments in identifying low-penetrance susceptibility genes and the role of the Ovarian Cancer Association Consortium (OCAC) in these discoveries. The OCAC was established to facilitate large-scale replication analyses for reported genetic associations for EOC. Since its inception, the OCAC has conducted both candidate gene and genome-wide association studies (GWAS); the latter has identified six established loci for EOC susceptibility, most of which showed stronger association with the serous histological subtype. Future GWAS and sequencing studies are likely to result in the discovery of additional susceptibility loci and may result in established associations with clinical outcome. Additional rare and uncommon ovarian cancer loci will likely be uncovered from high-throughput next-generation sequencing studies. Applying these novel findings to establish improved preventative and clinical intervention strategies will be one of the major challenges of future work.

Authors
Bolton, KL; Ganda, C; Berchuck, A; Pharaoh, PDP; Gayther, SA
MLA Citation
Bolton, KL, Ganda, C, Berchuck, A, Pharaoh, PDP, and Gayther, SA. "Role of common genetic variants in ovarian cancer susceptibility and outcome: progress to date from the Ovarian Cancer Association Consortium (OCAC)." Journal of Internal Medicine 271.4 (April 2012): 366-378. (Review)
PMID
22443200
Source
epmc
Published In
Journal of Internal Medicine
Volume
271
Issue
4
Publish Date
2012
Start Page
366
End Page
378
DOI
10.1111/j.1365-2796.2011.02509.x

Minimally invasive surgery for endometrial cancer: the horse is already out of the barn.

Authors
Berchuck, A; Secord, AA; Havrilesky, LJ
MLA Citation
Berchuck, A, Secord, AA, and Havrilesky, LJ. "Minimally invasive surgery for endometrial cancer: the horse is already out of the barn." J Clin Oncol 30.7 (March 1, 2012): 681-682.
PMID
22291090
Source
pubmed
Published In
Journal of Clinical Oncology
Volume
30
Issue
7
Publish Date
2012
Start Page
681
End Page
682
DOI
10.1200/JCO.2011.40.5506

Common variation in Nemo-like kinase is associated with risk of ovarian cancer.

Overexpression of mitotic kinases has been associated with prognosis, histologic grade, and clinical stage in ovarian cancer, but the relationship between inherited variation in these genes and ovarian cancer risk has not been well defined.We measured associations between 397 single nucleotide polymorphisms (SNPs) from 67 mitotic kinases and invasive epithelial ovarian cancer risk in two case-control studies (n = 671 cases; n = 939 controls). Thirty-six candidate SNPs (P < 0.05) were assessed in a replication analysis consisting of three additional studies (n = 1,094 cases; n = 829 controls).In initial analysis, thirty-six SNPs were suggestive of association with risk of serous ovarian cancer, all subtypes of ovarian cancer, or both (P < 0.05). Replication analyses suggested an association between rs2125846 in the Nemo-like kinase (NLK) gene and ovarian cancer (serous OR = 1.36, 95% CI: 1.11-1.67, P = 1.77 × 10(-3); all subtypes OR = 1.30, 95% CI: 1.08-1.56, P = 2.97 × 10(-3)). Furthermore, rs2125846 was associated with risk in the combined discovery and replication sets (serous OR = 1.33, 95% CI: 1.15-1.54; all subtypes OR = 1.27, 95% CI: 1.12-1.45).Variation in NLK may be associated with risk of invasive epithelial ovarian cancer. Further studies are needed to confirm and understand the biologic relationship between this mitotic kinase and ovarian cancer risk.An association between SNPs in NLK and ovarian cancer may provide biologic insight into the development of this disease.

Authors
Stevens, KN; Kelemen, LE; Wang, X; Fridley, BL; Vierkant, RA; Fredericksen, Z; Armasu, SM; Tsai, Y-Y; Berchuck, A; Narod, SA; Phelan, CM; Sutphen, R; Birrer, MJ; Schildkraut, JM; Sellers, TA; Goode, EL; Ovarian Cancer Association Consortium, ; Couch, FJ
MLA Citation
Stevens, KN, Kelemen, LE, Wang, X, Fridley, BL, Vierkant, RA, Fredericksen, Z, Armasu, SM, Tsai, Y-Y, Berchuck, A, Narod, SA, Phelan, CM, Sutphen, R, Birrer, MJ, Schildkraut, JM, Sellers, TA, Goode, EL, Ovarian Cancer Association Consortium, , and Couch, FJ. "Common variation in Nemo-like kinase is associated with risk of ovarian cancer." Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology 21.3 (March 2012): 523-528.
PMID
22253297
Source
epmc
Published In
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology
Volume
21
Issue
3
Publish Date
2012
Start Page
523
End Page
528
DOI
10.1158/1055-9965.EPI-11-0797

Ovarian cancer risk associated with inherited inflammation-related variants.

The importance of inflammation pathways to the development of many human cancers prompted us to examine the associations between single-nucleotide polymorphisms (SNP) in inflammation-related genes and risk of ovarian cancer. In a multisite case-control study, we genotyped SNPs in a large panel of inflammatory genes in 930 epithelial ovarian cancer cases and 1,037 controls using a custom array and analyzed by logistic regression. SNPs with P < 0.10 were evaluated among 3,143 cases and 2,102 controls from the Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI) post-GWAS collaboration. Combined analysis revealed association with SNPs rs17561 and rs4848300 in the interleukin gene IL1A which varied by histologic subtype (P(heterogeneity) = 0.03). For example, IL1A rs17561, which correlates with numerous inflammatory phenotypes, was associated with decreased risk of clear cell, mucinous, and endometrioid subtype, but not with the most common serous subtype. Genotype at rs1864414 in the arachidonate 5-lipoxygenase ALOX5 was also associated with decreased risk. Thus, inherited variation in IL1A and ALOX5 seems to affect ovarian cancer risk which, for IL1A, is limited to rarer subtypes. Given the importance of inflammation in tumorigenesis and growing evidence of subtype-specific features in ovarian cancer, functional investigations will be important to help clarify the importance of inherited variation related to inflammation in ovarian carcinogenesis.

Authors
White, KL; Schildkraut, JM; Palmieri, RT; Iversen, ES; Berchuck, A; Vierkant, RA; Rider, DN; Charbonneau, B; Cicek, MS; Sutphen, R; Birrer, MJ; Pharoah, PPD; Song, H; Tyrer, J; Gayther, SA; Ramus, SJ; Wentzensen, N; Yang, HP; Garcia-Closas, M; Phelan, CM; Cunningham, JM; Fridley, BL; Sellers, TA; Goode, EL; Ovarian Cancer Association Consortium,
MLA Citation
White, KL, Schildkraut, JM, Palmieri, RT, Iversen, ES, Berchuck, A, Vierkant, RA, Rider, DN, Charbonneau, B, Cicek, MS, Sutphen, R, Birrer, MJ, Pharoah, PPD, Song, H, Tyrer, J, Gayther, SA, Ramus, SJ, Wentzensen, N, Yang, HP, Garcia-Closas, M, Phelan, CM, Cunningham, JM, Fridley, BL, Sellers, TA, Goode, EL, and Ovarian Cancer Association Consortium, . "Ovarian cancer risk associated with inherited inflammation-related variants." Cancer Research 72.5 (March 2012): 1064-1069.
PMID
22282663
Source
epmc
Published In
Cancer Research
Volume
72
Issue
5
Publish Date
2012
Start Page
1064
End Page
1069
DOI
10.1158/0008-5472.CAN-11-3512

Nonsteroidal antiinflammatory drugs and progestins synergistically enhance cell death in ovarian epithelial cells.

OBJECTIVE: There is growing evidence that progestins and nonsteroidal antiinflammatory drugs (NSAIDs) may prevent ovarian cancer. Because both induce apoptosis, we investigated the potential for synergistic impact of combined drug treatment on cell death. STUDY DESIGN: Using normal and malignant human ovarian epithelial cells and an NSAID-sensitive human colon cancer cell line, we evaluated the effects of progestins and NSAIDs alone and in combination on apoptosis. RESULTS: Both progestins and NSAIDs dose dependently inhibited cell growth (P < .0001). Doses of NSAIDs or progestins that independently reduced cell viability by less than 30% synergistically reduced cell viability by 70-95% when combined. Similarly, the NSAID/progestin combination conferred 4- to 18-fold (P < .05) increased apoptosis over either treatment alone. CONCLUSION: Our results suggest it may be possible to combine progestins and NSAIDs to achieve ovarian cancer prevention at lower doses of each than are required for single administration, thereby lessening the risk of side effects posed by these agents.

Authors
Rodriguez, GC; Turbov, JM; Berchuck, A; Stack, MS; Hurteau, JA; Thaete, LG; Barry, CP
MLA Citation
Rodriguez, GC, Turbov, JM, Berchuck, A, Stack, MS, Hurteau, JA, Thaete, LG, and Barry, CP. "Nonsteroidal antiinflammatory drugs and progestins synergistically enhance cell death in ovarian epithelial cells." Am J Obstet Gynecol 206.3 (March 2012): 253.e1-253.e9.
PMID
22206747
Source
pubmed
Published In
American Journal of Obstetrics and Gynecology
Volume
206
Issue
3
Publish Date
2012
Start Page
253.e1
End Page
253.e9
DOI
10.1016/j.ajog.2011.11.012

DNA methylation profiles distinguish serous, mucinous and clear cell but not endometrioid epithelial ovarian cancers

Authors
Murphy, S; Yang, H; Yamaguchi, K; Huang, Z; Konishi, I; Berchuck, A
MLA Citation
Murphy, S, Yang, H, Yamaguchi, K, Huang, Z, Konishi, I, and Berchuck, A. "DNA methylation profiles distinguish serous, mucinous and clear cell but not endometrioid epithelial ovarian cancers." GYNECOLOGIC ONCOLOGY 125 (March 2012): S99-S99.
Source
wos-lite
Published In
Gynecologic Oncology
Volume
125
Publish Date
2012
Start Page
S99
End Page
S99
DOI
10.1016/j.ygyno.2011.12.237

Frequency of the cancer genome atlas expression subtypes differs between early and advanced stage high grade serous ovarian cancers

Authors
Berchuck, A; Sfakianos, G; Whitaker, R; Levine, D; Murphy, S; Marks, J; Iversen, E
MLA Citation
Berchuck, A, Sfakianos, G, Whitaker, R, Levine, D, Murphy, S, Marks, J, and Iversen, E. "Frequency of the cancer genome atlas expression subtypes differs between early and advanced stage high grade serous ovarian cancers." GYNECOLOGIC ONCOLOGY 125 (March 2012): S133-S133.
Source
wos-lite
Published In
Gynecologic Oncology
Volume
125
Publish Date
2012
Start Page
S133
End Page
S133
DOI
10.1016/j.ygyno.2011.12.325

Clinical translation of the cancer genome atlas signature for ovarian cancer survival

Authors
Sfakianos, G; Iversen, E; Lowery, W; Whitaker, R; Akushevich, L; Schildkraut, J; Marks, J; Berchuck, A
MLA Citation
Sfakianos, G, Iversen, E, Lowery, W, Whitaker, R, Akushevich, L, Schildkraut, J, Marks, J, and Berchuck, A. "Clinical translation of the cancer genome atlas signature for ovarian cancer survival." GYNECOLOGIC ONCOLOGY 125 (March 2012): S42-S42.
Source
wos-lite
Published In
Gynecologic Oncology
Volume
125
Publish Date
2012
Start Page
S42
End Page
S42
DOI
10.1016/j.ygyno.2011.12.101

Loss of p16 in advanced stage epithelial ovarian cancer is associated with chemoresistant disease, suboptimal debulking and poor progression-free survival: A Gynecologic Oncology Group study

Authors
Wallace, A; Darcy, K; Alvarez-Secord, A; Hutson, A; Tritchler, D; Kirchgraber, L; Grace, L; Whitaker, R; Berchuck, A; Havrilesky, L
MLA Citation
Wallace, A, Darcy, K, Alvarez-Secord, A, Hutson, A, Tritchler, D, Kirchgraber, L, Grace, L, Whitaker, R, Berchuck, A, and Havrilesky, L. "Loss of p16 in advanced stage epithelial ovarian cancer is associated with chemoresistant disease, suboptimal debulking and poor progression-free survival: A Gynecologic Oncology Group study." GYNECOLOGIC ONCOLOGY 125 (March 2012): S37-S37.
Source
wos-lite
Published In
Gynecologic Oncology
Volume
125
Publish Date
2012
Start Page
S37
End Page
S37
DOI
10.1016/j.ygyno.2011.12.084

Retraction. An integrated genomic-based approach to individualized treatment of patients with advanced-stage ovarian cancer.

MLA Citation
"Retraction. An integrated genomic-based approach to individualized treatment of patients with advanced-stage ovarian cancer." Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology 30.6 (February 2012): 678-null.
PMID
22451975
Source
epmc
Published In
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
Volume
30
Issue
6
Publish Date
2012
Start Page
678
DOI
10.1200/jco.2012.42.0331

Cost-effectiveness of combination versus sequential docetaxel and carboplatin for the treatment of platinum-sensitive, recurrent ovarian cancer.

BACKGROUND: In a randomized controlled trial (RCT) of patients with recurrent, platinum-sensitive ovarian cancer, the combination weekly docetaxel and carboplatin was associated a with progression-free survival (PFS) of 13.7 months compared with 8.4 months for sequential, single-agent docetaxel followed by carboplatin. The objective of the current study was to construct a cost-utility model to compare these 2 regimens with the incorporation of prospectively collected quality-of-life (QoL) data. METHODS: An RCT of concurrent docetaxel and carboplatin (cDC) versus docetaxel followed by carboplatin (sequential docetaxel and carboplatin [sDC]) was the basis for a Markov decision model, and the primary effectiveness outcome was PFS. Costs were estimated using US dollars based on Medicare reimbursements for chemotherapy regimens, bone marrow support, and management of adverse events. QoL data obtained using the Functional Assessment of Cancer Therapy-General questionnaire were converted to utilities. Costs and incremental cost-effectiveness ratios (ICERs) were reported in US dollars per quality-adjusted life year (QALY). Extensive 1-way sensitivity analyses and a Monte Carlo probabilistic sensitivity analysis were performed. RESULTS: The least expensive strategy was sDC, which cost an average of $20,381, compared with cDC, which cost an average of $25,122. cDC had an ICER of $25,239 per QALY compared with sDC. cDC remained cost-effective, with an ICER <$50,000 per QALY, over a range of costs and estimates. In Monte Carlo sensitivity analysis using a $50,000 per QALY willingness-to-pay threshold, cDC was either dominant or cost-effective with an ICER <$50,000 per QALY in 83% of simulations. CONCLUSIONS: Combined weekly cDC appeared to be cost-effective compared with sDC as treatment strategy for patients with platinum-sensitive ovarian cancer, even when accounting for slightly lower QoL during treatment.

Authors
Havrilesky, LJ; Pokrzywinski, R; Revicki, D; Higgins, RV; Nycum, LR; Kohler, MF; Berchuck, A; Myers, ER; Secord, AA
MLA Citation
Havrilesky, LJ, Pokrzywinski, R, Revicki, D, Higgins, RV, Nycum, LR, Kohler, MF, Berchuck, A, Myers, ER, and Secord, AA. "Cost-effectiveness of combination versus sequential docetaxel and carboplatin for the treatment of platinum-sensitive, recurrent ovarian cancer." Cancer 118.2 (January 15, 2012): 386-391.
PMID
21598242
Source
pubmed
Published In
Cancer
Volume
118
Issue
2
Publish Date
2012
Start Page
386
End Page
391
DOI
10.1002/cncr.26199

Loss of ARID1A-associated protein expression is a frequent event in clear cell and endometrioid ovarian cancers.

Inactivating somatic mutations in the ARID1A gene are described in a significant fraction of clear cell and endometrioid ovarian cancers leading to loss of the corresponding protein (BAF250a). Expression of BAF250a was examined in clear cell and endometrioid cancers accrued as part of the North Carolina Ovarian Cancer Study, a population-based case-control study, to determine whether loss of expression is associated with clinical and epidemiological features.Immunostaining for BAF250a was performed using 212 clear cell and endometrioid ovarian cancers. Associations between loss of BAF250a and clinical and epidemiological features were examined. Variables were analyzed by logistic regression.Loss of BAF250a expression was noted in 96 (45%) of 212 cancers: 34 (41%) of 82 clear cell cases and 62 (48%) of 130 endometrioid cases. There was no relationship between the loss of BAF250a and stage, grade, survival, or epidemiological variables.These data confirm that loss of the ARID1A-encoded protein BAF250a is a frequent event in the genesis of clear cell and endometrioid ovarian cancers. Loss of BAF250a was not associated with clinical or epidemiologic characteristics. One explanation for these findings is that inactivation of the chromatin remodeling pathway may be a requisite event in the development of these cancers.

Authors
Lowery, WJ; Schildkraut, JM; Akushevich, L; Bentley, R; Marks, JR; Huntsman, D; Berchuck, A
MLA Citation
Lowery, WJ, Schildkraut, JM, Akushevich, L, Bentley, R, Marks, JR, Huntsman, D, and Berchuck, A. "Loss of ARID1A-associated protein expression is a frequent event in clear cell and endometrioid ovarian cancers." International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society 22.1 (January 2012): 9-14.
PMID
22193641
Source
epmc
Published In
International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society
Volume
22
Issue
1
Publish Date
2012
Start Page
9
End Page
14
DOI
10.1097/IGC.0b013e318231f140

Regular Multivitamin Supplement Use, Single Nucleotide Polymorphisms in ATIC, SHMT2, and SLC46A1, and Risk of Ovarian Carcinoma.

ATIC, SHMT2, and SLC46A1 have essential roles in one-carbon (1-C) transfer. The authors examined whether associations between ovarian carcinoma and 15 variants in these genes are modified by regular multivitamin use, a source of 1-C donors, among Caucasian participants from two US case-control studies. Using a phased study design, variant-by-multivitamin interactions were tested, and associations between variants and ovarian carcinoma were reported stratified by multivitamin supplement use. Per-allele risk associations were modified by multivitamin use at six variants among 655 cases and 920 controls (Phase 1). In a larger sample of 968 cases and 1,265 controls (Phases 1 and 2), interactions were significant (P ≤ 0.03) for two variants, particularly among regular multivitamin users: ATIC rs7586969 [odds ratio (OR) = 0.7, 95% confidence interval (CI) = 0.6-0.9] and ATIC rs16853834 (OR = 1.5, 95% CI = 1.1-2.0). The two ATIC single nucleotide polymorphisms (SNPs) did not share the same haplotype; however, the haplotypes they comprised mirrored their SNP risk associations among regular multivitamin supplement users. A multi-variant analysis was also performed by comparing the observed likelihood ratio test statistic from adjusted models with and without the two ATIC variant-by-multivitamin interaction terms with a null distribution of test statistics generated by permuting case status 10,000 times. The corresponding observed P value of 0.001 was more extreme than the permutation-derived P value of 0.009, suggesting rejection of the null hypothesis of no association. In summary, there is little statistical evidence that the 15 variants are independently associated with risk of ovarian carcinoma. However, the statistical interaction of ATIC variants with regular multivitamin intake, when evaluated at both the SNP and gene level, may support these findings as relevant to ovarian health and disease processes.

Authors
Kelemen, LE; Wang, Q; Dinu, I; Vierkant, RA; Tsai, Y-Y; Cunningham, JM; Phelan, CM; Fridley, BL; Amankwah, EK; Iversen, ES; Berchuck, A; Schildkraut, JM; Goode, EL; Sellers, TA
MLA Citation
Kelemen, LE, Wang, Q, Dinu, I, Vierkant, RA, Tsai, Y-Y, Cunningham, JM, Phelan, CM, Fridley, BL, Amankwah, EK, Iversen, ES, Berchuck, A, Schildkraut, JM, Goode, EL, and Sellers, TA. "Regular Multivitamin Supplement Use, Single Nucleotide Polymorphisms in ATIC, SHMT2, and SLC46A1, and Risk of Ovarian Carcinoma." Frontiers in Genetics 3 (January 2012): 33-null.
PMID
22461784
Source
epmc
Published In
Frontiers in Genetics
Volume
3
Publish Date
2012
Start Page
33
DOI
10.3389/fgene.2012.00033

Endometriosis and ovarian cancer - Authors' reply

Authors
Pearce, CL; Berchuck, A
MLA Citation
Pearce, CL, and Berchuck, A. "Endometriosis and ovarian cancer - Authors' reply." The Lancet Oncology 13.5 (2012): e190-.
Source
scival
Published In
The Lancet. Oncology
Volume
13
Issue
5
Publish Date
2012
Start Page
e190
DOI
10.1016/S1470-2045(12)70103-1

Analysis of PSPHL as a Candidate Gene Influencing the Racial Disparity in Endometrial Cancer.

Endometrial cancer is the most commonly diagnosed gynecologic malignancy in the United States. A well recognized disparity by race in both incidence and survival outcome exists for this cancer. Specifically Caucasians are about two times more likely to develop endometrial cancer than are African-Americans. However, African-American women are more likely to die from this disease than are Caucasians. The basis for this disparity remains unknown. Previous studies have identified differences in the types and frequencies of gene mutations among endometrial cancers from Caucasians and African-Americans suggesting that the tumors from these two groups might have differing underlying genetic defects. We performed a gene expression microarray study in an effort to identify differentially expressed transcripts between African-American and Caucasian women's endometrial cancers. Our gene expression screen identified a list of potential biomarkers that are differentially expressed between these two groups of cancers. Of these we identified a poorly characterized transcript with a region of homology to phospho serine phosphatase (PSPH) and designated phospho serine phosphatase like (PSPHL) as the most differentially over-expressed gene in cancers from African-Americans. We further clarified the nature of expressed transcripts. Northern blot analysis confirmed the message was limited to a transcript of under 1 kB. Sequence analysis of transcripts confirmed two alternate open reading frame (ORF) isoforms due to alternative splicing events. Splice specific primer sets confirmed both isoforms were differentially expressed in tissues from Caucasians and African-Americans. We further examined the expression in other tissues from women to include normal endometrium, normal and malignant ovary. In all cases PSPHL expression was more often present in tissues from African-Americans than Caucasians. Our data confirm the African-American based expression of the PSPHL transcript in endometrial cancer and also identify its expression in other tissues from African-Americans including ovary and ovarian cancer. PSPHL represents a candidate gene that might influence the observed racial disparity in endometrial and other cancers.

Authors
Allard, JE; Chandramouli, GVR; Stagliano, K; Hood, BL; Litzi, T; Shoji, Y; Boyd, J; Berchuck, A; Conrads, TP; Maxwell, GL; Risinger, JI
MLA Citation
Allard, JE, Chandramouli, GVR, Stagliano, K, Hood, BL, Litzi, T, Shoji, Y, Boyd, J, Berchuck, A, Conrads, TP, Maxwell, GL, and Risinger, JI. "Analysis of PSPHL as a Candidate Gene Influencing the Racial Disparity in Endometrial Cancer. (Published online)" Front Oncol 2 (2012): 65-.
PMID
22783543
Source
pubmed
Published In
Frontiers in Oncology
Volume
2
Publish Date
2012
Start Page
65
DOI
10.3389/fonc.2012.00065

Ovarian cancer progenitor/stem cells: Therapeutic potential

A number of studies provide evidence for the existence of ovarian cancer stem cells, defined by functional attributes, foremost the ability to reconstruct the heterogeneity of the original tumor in immunocompromised mice through asymmetric cell division. As satisfying as the concept of an ovarian cancer stem cell is to explain the origins of ovarian cancer, can this concept be applied universally to explain the diversity in the histologic types of epithelial ovarian cancer? Can the unique features of an ovarian cancer stem cell population be exploited to therapeutically disarm these cells? Herein we explore these questions, beginning with a brief description of cancer stem cells in general and then turning more specifically to what is known about ovarian cancer stem cells. We then explore the potential for therapeutic targeting of these cells, and what the future holds for implementation of such approaches toward improving survival of women with ovarian cancer. © 2011 Springer Science+Business Media, LLC.

Authors
Murphy, SK; Berchuck, A
MLA Citation
Murphy, SK, and Berchuck, A. "Ovarian cancer progenitor/stem cells: Therapeutic potential." (December 1, 2011): 223-244. (Chapter)
Source
scopus
Publish Date
2011
Start Page
223
End Page
244
DOI
10.1007/978-1-4419-7216-3_11

Quantitative detection of RASSF1A DNA promoter methylation in tumors and serum of patients with serous epithelial ovarian cancer.

OBJECTIVE: Detection of cell free tumor-specific DNA methylation has been proposed as a potentially useful noninvasive mechanism to detect malignancies, including ovarian cancer, and to monitor response to treatment. However, there are few easily implemented quantitative approaches available for DNA methylation analysis. Our objectives were to develop an absolute quantitative method for detection of DNA methylation using RASSF1A, a known target of promoter methylation in ovarian cancer, and test the ability to detect RASSF1A methylation in tumors and serum specimens of women with ovarian cancer. METHODS: Bisulfite modified DNAs were subjected to real time PCR using nondiscriminatory PCR primers and a probe with sequence containing a single CpG site, theoretically able to capture the methylation status of that CpG for every allele within a given specimen. Input DNA was normalized to ACTB levels detected simultaneously by assay multiplexing. Methylation levels were established by comparison to results obtained from universally methylated DNA. RESULTS: The assay was able to detect one methylated RASSF1A allele in 100,000 unmethylated alleles. RASSF1A was methylated in 54 of 106 (51%) invasive serous ovarian cancers analyzed and methylation status was concordant in 20/20 matched preoperative serum-tumor pairs. Serial serum specimens taken over the course of treatment for 8 of 9 patients showed fluctuations in RASSF1A methylation concomitant with disease status. CONCLUSIONS: This novel assay provides a real-time PCR-based method for absolute quantitation of DNA methylation. Our results support feasibility of monitoring RASSF1A methylation from serum samples taken over the course of treatment from women with ovarian cancer.

Authors
Bondurant, AE; Huang, Z; Whitaker, RS; Simel, LR; Berchuck, A; Murphy, SK
MLA Citation
Bondurant, AE, Huang, Z, Whitaker, RS, Simel, LR, Berchuck, A, and Murphy, SK. "Quantitative detection of RASSF1A DNA promoter methylation in tumors and serum of patients with serous epithelial ovarian cancer." Gynecologic Oncology 123.3 (December 2011): 581-587.
PMID
21955482
Source
epmc
Published In
Gynecologic Oncology
Volume
123
Issue
3
Publish Date
2011
Start Page
581
End Page
587
DOI
10.1016/j.ygyno.2011.08.029

Response to Weidhaas and Slack re: Comments on "The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implication for clinical testing"

Authors
Risch, HA; Berchuck, A; Pharoah, PDP
MLA Citation
Risch, HA, Berchuck, A, and Pharoah, PDP. "Response to Weidhaas and Slack re: Comments on "The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implication for clinical testing"." Clinical Cancer Research : an Official Journal of the American Association for Cancer Research 17.20 (October 2011).
PMID
24353399
Source
epmc
Published In
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
Volume
17
Issue
20
Publish Date
2011
DOI
10.1158/1078-0432.CCR-11-1504

BAD phosphorylation determines ovarian cancer chemosensitivity and patient survival.

Despite initial sensitivity to chemotherapy, ovarian cancers (OVCA) often develop drug resistance, which limits patient survival. Using specimens and/or genomic data from 289 patients and a panel of cancer cell lines, we explored genome-wide expression changes that underlie the evolution of OVCA chemoresistance and characterized the BCL2 antagonist of cell death (BAD) apoptosis pathway as a determinant of chemosensitivity and patient survival.Serial OVCA cell cisplatin treatments were performed in parallel with measurements of genome-wide expression changes. Pathway analysis was carried out on genes associated with increasing cisplatin resistance (EC(50)). BAD-pathway expression and BAD protein phosphorylation were evaluated in patient samples and cell lines as determinants of chemosensitivity and/or clinical outcome and as therapeutic targets.Induced in vitro OVCA cisplatin resistance was associated with BAD-pathway expression (P < 0.001). In OVCA cell lines and primary specimens, BAD protein phosphorylation was associated with platinum resistance (n = 147, P < 0.0001) and also with overall patient survival (n = 134, P = 0.0007). Targeted modulation of BAD-phosphorylation levels influenced cisplatin sensitivity. A 47-gene BAD-pathway score was associated with in vitro phosphorylated BAD levels and with survival in 142 patients with advanced-stage (III/IV) serous OVCA. Integration of BAD-phosphorylation or BAD-pathway score with OVCA surgical cytoreductive status was significantly associated with overall survival by log-rank test (P = 0.004 and P < 0.0001, respectively).The BAD apoptosis pathway influences OVCA chemosensitivity and overall survival, likely via modulation of BAD phosphorylation. The pathway has clinical relevance as a biomarker of therapeutic response, patient survival, and as a promising therapeutic target.

Authors
Marchion, DC; Cottrill, HM; Xiong, Y; Chen, N; Bicaku, E; Fulp, WJ; Bansal, N; Chon, HS; Stickles, XB; Kamath, SG; Hakam, A; Li, L; Su, D; Moreno, C; Judson, PL; Berchuck, A; Wenham, RM; Apte, SM; Gonzalez-Bosquet, J; Bloom, GC; Eschrich, SA; Sebti, S; Chen, D-T; Lancaster, JM
MLA Citation
Marchion, DC, Cottrill, HM, Xiong, Y, Chen, N, Bicaku, E, Fulp, WJ, Bansal, N, Chon, HS, Stickles, XB, Kamath, SG, Hakam, A, Li, L, Su, D, Moreno, C, Judson, PL, Berchuck, A, Wenham, RM, Apte, SM, Gonzalez-Bosquet, J, Bloom, GC, Eschrich, SA, Sebti, S, Chen, D-T, and Lancaster, JM. "BAD phosphorylation determines ovarian cancer chemosensitivity and patient survival." Clinical Cancer Research : an Official Journal of the American Association for Cancer Research 17.19 (October 2011): 6356-6366.
PMID
21849418
Source
epmc
Published In
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
Volume
17
Issue
19
Publish Date
2011
Start Page
6356
End Page
6366
DOI
10.1158/1078-0432.CCR-11-0735

A genomic-based signature of response to chemotherapy in ovarian cancer fails to predict clinical outcome in two independent cohorts.

Authors
Barry, W; Chen, W; Sfakianos, G; Isner, P; Datto, M; Kuderer, N; Lyman, G; Abernethy, A; Ginsburg, G; Berchuck, A
MLA Citation
Barry, W, Chen, W, Sfakianos, G, Isner, P, Datto, M, Kuderer, N, Lyman, G, Abernethy, A, Ginsburg, G, and Berchuck, A. "A genomic-based signature of response to chemotherapy in ovarian cancer fails to predict clinical outcome in two independent cohorts." October 2011.
Source
wos-lite
Published In
European Journal of Cancer
Volume
47
Publish Date
2011
Start Page
S8
End Page
S8
DOI
10.1016/S0959-8049(11)72620-X

Rethinking ovarian cancer: recommendations for improving outcomes.

There have been major advances in our understanding of the cellular and molecular biology of the human malignancies that are collectively referred to as ovarian cancer. At a recent Helene Harris Memorial Trust meeting, an international group of researchers considered actions that should be taken to improve the outcome for women with ovarian cancer. Nine major recommendations are outlined in this Opinion article.

Authors
Vaughan, S; Coward, JI; Bast, RC; Berchuck, A; Berek, JS; Brenton, JD; Coukos, G; Crum, CC; Drapkin, R; Etemadmoghadam, D; Friedlander, M; Gabra, H; Kaye, SB; Lord, CJ; Lengyel, E; Levine, DA; McNeish, IA; Menon, U; Mills, GB; Nephew, KP; Oza, AM; Sood, AK; Stronach, EA; Walczak, H; Bowtell, DD; Balkwill, FR
MLA Citation
Vaughan, S, Coward, JI, Bast, RC, Berchuck, A, Berek, JS, Brenton, JD, Coukos, G, Crum, CC, Drapkin, R, Etemadmoghadam, D, Friedlander, M, Gabra, H, Kaye, SB, Lord, CJ, Lengyel, E, Levine, DA, McNeish, IA, Menon, U, Mills, GB, Nephew, KP, Oza, AM, Sood, AK, Stronach, EA, Walczak, H, Bowtell, DD, and Balkwill, FR. "Rethinking ovarian cancer: recommendations for improving outcomes." Nature Reviews. Cancer 11.10 (September 23, 2011): 719-725.
PMID
21941283
Source
epmc
Published In
Nature Reviews. Cancer
Volume
11
Issue
10
Publish Date
2011
Start Page
719
End Page
725
DOI
10.1038/nrc3144

Large prospective study of ovarian cancer screening in high-risk women: CA125 cut-point defined by menopausal status.

Previous screening trials for early detection of ovarian cancer in postmenopausal women have used the standard CA125 cut-point of 35 U/mL, the 98th percentile in this population yielding a 2% false positive rate, whereas the same cut-point in trials of premenopausal women results in substantially higher false positive rates. We investigated demographic and clinical factors predicting CA125 distributions, including 98th percentiles, in a large population of high-risk women participating in two ovarian cancer screening studies with common eligibility criteria and screening protocols. Baseline CA125 values and clinical and demographic data from 3,692 women participating in screening studies conducted by the National Cancer Institute-sponsored Cancer Genetics Network and Gynecologic Oncology Group were combined for this preplanned analysis. Because of the large effect of menopausal status on CA125 levels, statistical analyses were conducted separately in pre- and postmenopausal subjects to determine the impact of other baseline factors on predicted CA125 cut-points on the basis of 98th percentile. The primary clinical factor affecting CA125 cut-points was menopausal status, with premenopausal women having a significantly higher cut-point of 50 U/mL, while in postmenopausal subjects the standard cut-point of 35 U/mL was recapitulated. In premenopausal women, current oral contraceptive (OC) users had a cut-point of 40 U/mL. To achieve a 2% false positive rate in ovarian cancer screening trials and in high-risk women choosing to be screened, the cut-point for initial CA125 testing should be personalized primarily for menopausal status (50 for premenopausal women, 40 for premenopausal on OC, and 35 for postmenopausal women).

Authors
Skates, SJ; Mai, P; Horick, NK; Piedmonte, M; Drescher, CW; Isaacs, C; Armstrong, DK; Buys, SS; Rodriguez, GC; Horowitz, IR; Berchuck, A; Daly, MB; Domchek, S; Cohn, DE; Van Le, L; Schorge, JO; Newland, W; Davidson, SA; Barnes, M; Brewster, W; Azodi, M; Nerenstone, S; Kauff, ND; Fabian, CJ; Sluss, PM; Nayfield, SG; Kasten, CH; Finkelstein, DM; Greene, MH; Lu, K
MLA Citation
Skates, SJ, Mai, P, Horick, NK, Piedmonte, M, Drescher, CW, Isaacs, C, Armstrong, DK, Buys, SS, Rodriguez, GC, Horowitz, IR, Berchuck, A, Daly, MB, Domchek, S, Cohn, DE, Van Le, L, Schorge, JO, Newland, W, Davidson, SA, Barnes, M, Brewster, W, Azodi, M, Nerenstone, S, Kauff, ND, Fabian, CJ, Sluss, PM, Nayfield, SG, Kasten, CH, Finkelstein, DM, Greene, MH, and Lu, K. "Large prospective study of ovarian cancer screening in high-risk women: CA125 cut-point defined by menopausal status." Cancer Prevention Research (Philadelphia, Pa.) 4.9 (September 2011): 1401-1408.
PMID
21893500
Source
epmc
Published In
Cancer Prevention Research
Volume
4
Issue
9
Publish Date
2011
Start Page
1401
End Page
1408
DOI
10.1158/1940-6207.CAPR-10-0402

Cost comparison of strategies for the management of venous thromboembolic event risk following laparotomy for ovarian cancer.

OBJECTIVE: To evaluate the costs and effectiveness of thromboprophylaxis strategies following laparotomy for ovarian cancer. METHODS: We constructed a decision model to evaluate six strategies for management of postoperative venous thromboembolism (VTE) risk: (1) no thromboprophylaxis; (2) inpatient sequential compression device (SCD); (3) inpatient unfractionated heparin (UFH) 5000 units TID; (4) inpatient low molecular weight heparin (LMWH) 40 mg daily; (5) UFH 5000 units TID×1 month; (6) LMWH 40 mg daily×1 month. Rates of VTE, heparin-induced thrombocytopenia, and significant bleeding for each strategy were obtained from published literature. Costs were based on institutional charges or obtained from the Agency for Healthcare Research and Quality Nationwide Inpatient Sample database for 2008 and average wholesale pricing. Sensitivity analyses were performed to account for uncertainty in estimates. RESULTS: In the base case, UFH×1 month was the least expensive (mean cost $1611) and most effective (VTE risk 1.9%) strategy. LMWH×1 month was equally effective but more expensive ($2197). Inpatient UFH, inpatient LMWH, and SCDs were less effective and more expensive than UFH×1 month. In the sensitivity analysis, cost rankings remained unchanged unless the baseline probability of VTE was assumed <6.5%, the cost of VTE treatment was <$20,000, or the cost of bleeding was >$4500. LMWH×1 month became least expensive when cost was decreased 38%. CONCLUSION: Based on current evidence, extended prophylaxis with UFH is the least expensive and most effective strategy to prevent postoperative VTE following laparotomy for ovarian cancer.

Authors
Teoh, D; Berchuck, A; Alvarez Secord, A; Lee, PS; Lowery, WJ; Sfakianos, GP; Valea, FA; Myers, ER; Havrilesky, LJ
MLA Citation
Teoh, D, Berchuck, A, Alvarez Secord, A, Lee, PS, Lowery, WJ, Sfakianos, GP, Valea, FA, Myers, ER, and Havrilesky, LJ. "Cost comparison of strategies for the management of venous thromboembolic event risk following laparotomy for ovarian cancer." Gynecol Oncol 122.3 (September 2011): 467-472.
PMID
21752434
Source
pubmed
Published In
Gynecologic Oncology
Volume
122
Issue
3
Publish Date
2011
Start Page
467
End Page
472
DOI
10.1016/j.ygyno.2011.06.014

MicroRNA processing and binding site polymorphisms are not replicated in the Ovarian Cancer Association Consortium.

Single nucleotide polymorphisms (SNP) in microRNA-related genes have been associated with epithelial ovarian cancer (EOC) risk in two reports, yet associated alleles may be inconsistent across studies.We conducted a pooled analysis of previously identified SNPs by combining genotype data from 3,973 invasive EOC cases and 3,276 controls from the Ovarian Cancer Association Consortium. We also conducted imputation to obtain dense coverage of genes and comparable genotype data for all studies. In total, 226 SNPs within 15 kb of 4 miRNA biogenesis genes (DDX20, DROSHA, GEMIN4, and XPO5) and 23 SNPs located within putative miRNA binding sites of 6 genes (CAV1, COL18A1, E2F2, IL1R1, KRAS, and UGT2A3) were genotyped or imputed and analyzed in the entire dataset.After adjustment for European ancestry, no overall association was observed between any of the analyzed SNPs and EOC risk.Common variants in these evaluated genes do not seem to be strongly associated with EOC risk.This analysis suggests earlier associations between EOC risk and SNPs in these genes may have been chance findings, possibly confounded by population admixture. To more adequately evaluate the relationship between genetic variants and cancer risk, large sample sizes are needed, adjustment for population stratification should be carried out, and use of imputed SNP data should be considered.

Authors
Permuth-Wey, J; Chen, Z; Tsai, Y-Y; Lin, H-Y; Chen, YA; Barnholtz-Sloan, J; Birrer, MJ; Chanock, SJ; Cramer, DW; Cunningham, JM; Fenstermacher, D; Fridley, BL; Garcia-Closas, M; Gayther, SA; Gentry-Maharaj, A; Gonzalez-Bosquet, J; Iversen, E; Jim, H; McLaughlin, J; Menon, U; Narod, SA; Phelan, CM; Ramus, SJ; Risch, H; Song, H; Sutphen, R; Terry, KL; Tyrer, J; Vierkant, RA; Wentzensen, N; Lancaster, JM; Cheng, JQ; Berchuck, A; Pharoah, PDP; Schildkraut, JM; Goode, EL; Sellers, TA; Ovarian Cancer Association Consortium (OCAC),
MLA Citation
Permuth-Wey, J, Chen, Z, Tsai, Y-Y, Lin, H-Y, Chen, YA, Barnholtz-Sloan, J, Birrer, MJ, Chanock, SJ, Cramer, DW, Cunningham, JM, Fenstermacher, D, Fridley, BL, Garcia-Closas, M, Gayther, SA, Gentry-Maharaj, A, Gonzalez-Bosquet, J, Iversen, E, Jim, H, McLaughlin, J, Menon, U, Narod, SA, Phelan, CM, Ramus, SJ, Risch, H, Song, H, Sutphen, R, Terry, KL, Tyrer, J, Vierkant, RA, Wentzensen, N, Lancaster, JM, Cheng, JQ, Berchuck, A, Pharoah, PDP, Schildkraut, JM, Goode, EL, Sellers, TA, and Ovarian Cancer Association Consortium (OCAC), . "MicroRNA processing and binding site polymorphisms are not replicated in the Ovarian Cancer Association Consortium." Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology 20.8 (August 2011): 1793-1797.
PMID
21636674
Source
epmc
Published In
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology
Volume
20
Issue
8
Publish Date
2011
Start Page
1793
End Page
1797
DOI
10.1158/1055-9965.EPI-11-0397

Mechanical stiffness grades metastatic potential in patient tumor cells and in cancer cell lines.

Cancer cells are defined by their ability to invade through the basement membrane, a critical step during metastasis. While increased secretion of proteases, which facilitates degradation of the basement membrane, and alterations in the cytoskeletal architecture of cancer cells have been previously studied, the contribution of the mechanical properties of cells in invasion is unclear. Here, we applied a magnetic tweezer system to establish that stiffness of patient tumor cells and cancer cell lines inversely correlates with migration and invasion through three-dimensional basement membranes, a correlation known as a power law. We found that cancer cells with the highest migratory and invasive potential are five times less stiff than cells with the lowest migration and invasion potential. Moreover, decreasing cell stiffness by pharmacologic inhibition of myosin II increases invasiveness, whereas increasing cell stiffness by restoring expression of the metastasis suppressor TβRIII/betaglycan decreases invasiveness. These findings are the first demonstration of the power-law relation between the stiffness and the invasiveness of cancer cells and show that mechanical phenotypes can be used to grade the metastatic potential of cell populations with the potential for single cell grading. The measurement of a mechanical phenotype, taking minutes rather than hours needed for invasion assays, is promising as a quantitative diagnostic method and as a discovery tool for therapeutics. By showing that altering stiffness predictably alters invasiveness, our results indicate that pathways regulating these mechanical phenotypes are novel targets for molecular therapy of cancer.

Authors
Swaminathan, V; Mythreye, K; O'Brien, ET; Berchuck, A; Blobe, GC; Superfine, R
MLA Citation
Swaminathan, V, Mythreye, K, O'Brien, ET, Berchuck, A, Blobe, GC, and Superfine, R. "Mechanical stiffness grades metastatic potential in patient tumor cells and in cancer cell lines." Cancer Research 71.15 (August 2011): 5075-5080.
PMID
21642375
Source
epmc
Published In
Cancer Research
Volume
71
Issue
15
Publish Date
2011
Start Page
5075
End Page
5080
DOI
10.1158/0008-5472.CAN-11-0247

Adverse events associated with laparoscopy vs laparotomy in the treatment of endometrial cancer.

OBJECTIVE: The objective of the study was to compare adverse event rates between laparoscopic vs open surgery for endometrial cancer. STUDY DESIGN: This was a retrospective cohort study comparing 107 women who underwent laparoscopy with 269 age- and body mass index-matched women who underwent laparotomy for treatment of endometrial cancer. RESULTS: Adverse event rates were similar between cohorts (37% laparoscopy vs 43% laparotomy, P=.248). Laparotomies had higher rates of cellulitis (16% vs 7%, P=.018) and open wound infection (9% vs 2%, P=.02), whereas laparoscopy had higher rates of sensory peripheral nerve deficit (5% vs 0%, P=.008) and lymphedema (7% vs 1%, P=.003). Laparoscopy was associated with longer mean operating room times but with shorter hospital stays and lower mean blood loss. CONCLUSION: Laparoscopy was associated with decreased rates of surgical site infections but had an increased risk of peripheral sensory nerve deficits and lymphedema when compared with laparotomy.

Authors
Barnett, JC; Havrilesky, LJ; Bondurant, AE; Fleming, ND; Lee, PS; Secord, AA; Berchuck, A; Valea, FA
MLA Citation
Barnett, JC, Havrilesky, LJ, Bondurant, AE, Fleming, ND, Lee, PS, Secord, AA, Berchuck, A, and Valea, FA. "Adverse events associated with laparoscopy vs laparotomy in the treatment of endometrial cancer." Am J Obstet Gynecol 205.2 (August 2011): 143.e1-143.e6.
PMID
21514921
Source
pubmed
Published In
American Journal of Obstetrics and Gynecology
Volume
205
Issue
2
Publish Date
2011
Start Page
143.e1
End Page
143.e6
DOI
10.1016/j.ajog.2011.03.012

Association between KRAS rs61764370 and triple-negative breast cancer--a false positive?

Authors
Pharoah, P; Antoniou, A; Berchuck, A; Chenevix-Trench, G; Gayther, S; Goode, E; Milne, R; Sellers, T; Tyrer, J
MLA Citation
Pharoah, P, Antoniou, A, Berchuck, A, Chenevix-Trench, G, Gayther, S, Goode, E, Milne, R, Sellers, T, and Tyrer, J. "Association between KRAS rs61764370 and triple-negative breast cancer--a false positive?." Lancet Oncol 12.8 (August 2011): 723-724. (Letter)
PMID
21807336
Source
pubmed
Published In
The Lancet Oncology
Volume
12
Issue
8
Publish Date
2011
Start Page
723
End Page
724
DOI
10.1016/S1470-2045(11)70156-5

Integrated genomic analyses of ovarian carcinoma.

A catalogue of molecular aberrations that cause ovarian cancer is critical for developing and deploying therapies that will improve patients' lives. The Cancer Genome Atlas project has analysed messenger RNA expression, microRNA expression, promoter methylation and DNA copy number in 489 high-grade serous ovarian adenocarcinomas and the DNA sequences of exons from coding genes in 316 of these tumours. Here we report that high-grade serous ovarian cancer is characterized by TP53 mutations in almost all tumours (96%); low prevalence but statistically recurrent somatic mutations in nine further genes including NF1, BRCA1, BRCA2, RB1 and CDK12; 113 significant focal DNA copy number aberrations; and promoter methylation events involving 168 genes. Analyses delineated four ovarian cancer transcriptional subtypes, three microRNA subtypes, four promoter methylation subtypes and a transcriptional signature associated with survival duration, and shed new light on the impact that tumours with BRCA1/2 (BRCA1 or BRCA2) and CCNE1 aberrations have on survival. Pathway analyses suggested that homologous recombination is defective in about half of the tumours analysed, and that NOTCH and FOXM1 signalling are involved in serous ovarian cancer pathophysiology.

Authors
Cancer Genome Atlas Research Network,
MLA Citation
Cancer Genome Atlas Research Network, . "Integrated genomic analyses of ovarian carcinoma." Nature 474.7353 (June 29, 2011): 609-615.
PMID
21720365
Source
epmc
Published In
Nature
Volume
474
Issue
7353
Publish Date
2011
Start Page
609
End Page
615
DOI
10.1038/nature10166

Genetic variation in insulin-like growth factor 2 may play a role in ovarian cancer risk.

The insulin-like growth factor (IGF) signaling axis plays an important role in cancer biology. We hypothesized that genetic variation in this pathway may influence risk of ovarian cancer. A three-center study of non-Hispanic whites including 1880 control women, 1135 women with invasive epithelial ovarian cancer and 321 women with borderline epithelial ovarian tumors was carried out to test the association between tag single-nucleotide polymorphisms (tSNPs) (n=58) in this pathway and risk of ovarian cancer. We found no association between variation in IGF1, IGFBP1 or IGFBP3 and risk of invasive disease, whereas five tSNPs in IGF2 were associated with risk of invasive epithelial ovarian cancer at P<0.05 and followed-up one of the associated SNPs. We conducted genotyping in 3216 additional non-Hispanic white cases and 5382 additional controls and were able to independently replicate our initial findings. In the combined set of studies, rs4320932 was associated with a 13% decreased risk of ovarian cancer per copy of the minor allele carried (95% confidence interval 0.81-0.93, P-trend=7.4 × 10(-5)). No heterogeneity of effect across study centers was observed (p(het)=0.25). IGF2 is emerging as an important gene for ovarian cancer; additional genotyping is warranted to further confirm these associations with IGF2 and to narrow down the region harboring the causal SNP.

Authors
Pearce, CL; Doherty, JA; Van Den Berg, DJ; Moysich, K; Hsu, C; Cushing-Haugen, KL; Conti, DV; Ramus, SJ; Gentry-Maharaj, A; Menon, U; Gayther, SA; Pharoah, PDP; Song, H; Kjaer, SK; Hogdall, E; Hogdall, C; Whittemore, AS; McGuire, V; Sieh, W; Gronwald, J; Medrek, K; Jakubowska, A; Lubinski, J; Chenevix-Trench, G; AOCS/ACS Study Group, ; Beesley, J; Webb, PM; Berchuck, A; Schildkraut, JM; Iversen, ES; Moorman, PG; Edlund, CK; Stram, DO; Pike, MC; Ness, RB; Rossing, MA; Wu, AH
MLA Citation
Pearce, CL, Doherty, JA, Van Den Berg, DJ, Moysich, K, Hsu, C, Cushing-Haugen, KL, Conti, DV, Ramus, SJ, Gentry-Maharaj, A, Menon, U, Gayther, SA, Pharoah, PDP, Song, H, Kjaer, SK, Hogdall, E, Hogdall, C, Whittemore, AS, McGuire, V, Sieh, W, Gronwald, J, Medrek, K, Jakubowska, A, Lubinski, J, Chenevix-Trench, G, AOCS/ACS Study Group, , Beesley, J, Webb, PM, Berchuck, A, Schildkraut, JM, Iversen, ES, Moorman, PG, Edlund, CK, Stram, DO, Pike, MC, Ness, RB, Rossing, MA, and Wu, AH. "Genetic variation in insulin-like growth factor 2 may play a role in ovarian cancer risk." Human Molecular Genetics 20.11 (June 2011): 2263-2272.
PMID
21422097
Source
epmc
Published In
Human Molecular Genetics
Volume
20
Issue
11
Publish Date
2011
Start Page
2263
End Page
2272
DOI
10.1093/hmg/ddr087

The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing.

An assay for the single-nucleotide polymorphism (SNP), rs61764370, has recently been commercially marketed as a clinical test to aid ovarian cancer risk evaluation in women with family histories of the disease. rs67164370 is in a 3'-UTR miRNA binding site of the KRAS oncogene and is a candidate for epithelial ovarian cancer (EOC) susceptibility. However, only one published article, analyzing fewer than 1,000 subjects in total, has examined this association.Risk association was evaluated in 8,669 cases of invasive EOC and 10,012 controls from 19 studies participating in the Ovarian Cancer Association Consortium, and in 683 cases and 2,044 controls carrying BRCA1 mutations from studies in the Consortium of Investigators of Modifiers of BRCA1/2. Prognosis association was also examined in a subset of five studies with progression-free survival (PFS) data and 18 studies with all-cause mortality data.No evidence of association was observed between genotype and risk of unselected EOC (OR = 1.02, 95% CI: 0.95-1.10), serous EOC (OR = 1.08, 95% CI: 0.98-1.18), familial EOC (OR = 1.09, 95% CI: 0.78-1.54), or among women carrying deleterious mutations in BRCA1 (OR = 1.09, 95% CI: 0.88-1.36). There was little evidence for association with survival time among unselected cases (HR = 1.10, 95% CI: 0.99-1.22), among serous cases (HR = 1.12, 95% CI = 0.99-1.28), or with PFS in 540 cases treated with carboplatin and paclitaxel (HR = 1.18, 95% CI: 0.93-1.52).These data exclude the possibility of an association between rs61764370 and a clinically significant risk of ovarian cancer or of familial ovarian cancer. Use of this SNP for ovarian cancer clinical risk prediction, therefore, seems unwarranted.

Authors
Pharoah, PDP; Palmieri, RT; Ramus, SJ; Gayther, SA; Andrulis, IL; Anton-Culver, H; Antonenkova, N; Antoniou, AC; Goldgar, D; BCFR Investigators, ; Beattie, MS; Beckmann, MW; Birrer, MJ; Bogdanova, N; Bolton, KL; Brewster, W; Brooks-Wilson, A; Brown, R; Butzow, R; Caldes, T; Caligo, MA; Campbell, I; Chang-Claude, J; Chen, YA; Cook, LS; Couch, FJ; Cramer, DW; Cunningham, JM; Despierre, E; Doherty, JA; Dörk, T; Dürst, M; Eccles, DM; Ekici, AB; Easton, D; EMBRACE Investigators, ; Fasching, PA; de Fazio, A; Fenstermacher, DA; Flanagan, JM; Fridley, BL; Friedman, E; Gao, B; Sinilnikova, O; GEMO Study Collaborators, ; Gentry-Maharaj, A; Godwin, AK; Goode, EL; Goodman, MT; Gross, J; Hansen, TVO; Harnett, P; Rookus, M; HEBON Investigators, ; Heikkinen, T; Hein, R; Høgdall, C; Høgdall, E; Iversen, ES; Jakubowska, A; Johnatty, SE; Karlan, BY; Kauff, ND; Kaye, SB; Chenevix-Trench, G; kConFab Investigators and the Consortium of Investigators of Modifiers of BRCA1/2, ; Kelemen, LE; Kiemeney, LA; Kjaer, SK; Lambrechts, D; Lapolla, JP; Lázaro, C; Le, ND; Leminen, A; Leunen, K; Levine, DA; Lu, Y; Lundvall, L; Macgregor, S; Marees, T; Massuger, LF; McLaughlin, JR; Menon, U; Montagna, M; Moysich, KB; Narod, SA; Nathanson, KL; Nedergaard, L; Ness, RB; Nevanlinna, H; Nickels, S; Osorio, A; Paul, J; Pearce, CL; Phelan, CM; Pike, MC; Radice, P; Rossing, MA; Schildkraut, JM; Sellers, TA; Singer, CF; Song, H; Stram, DO; Sutphen, R; Lindblom, A; SWE-BRCA Investigators, ; Terry, KL; Tsai, Y-Y; van Altena, AM; Vergote, I; Vierkant, RA; Vitonis, AF; Walsh, C; Wang-Gohrke, S; Wappenschmidt, B; Wu, AH; Ziogas, A; Berchuck, A; Risch, HA; Ovarian Cancer Association Consortium,
MLA Citation
Pharoah, PDP, Palmieri, RT, Ramus, SJ, Gayther, SA, Andrulis, IL, Anton-Culver, H, Antonenkova, N, Antoniou, AC, Goldgar, D, BCFR Investigators, , Beattie, MS, Beckmann, MW, Birrer, MJ, Bogdanova, N, Bolton, KL, Brewster, W, Brooks-Wilson, A, Brown, R, Butzow, R, Caldes, T, Caligo, MA, Campbell, I, Chang-Claude, J, Chen, YA, Cook, LS, Couch, FJ, Cramer, DW, Cunningham, JM, Despierre, E, Doherty, JA, Dörk, T, Dürst, M, Eccles, DM, Ekici, AB, Easton, D, EMBRACE Investigators, , Fasching, PA, de Fazio, A, Fenstermacher, DA, Flanagan, JM, Fridley, BL, Friedman, E, Gao, B, Sinilnikova, O, GEMO Study Collaborators, , Gentry-Maharaj, A, Godwin, AK, Goode, EL, Goodman, MT, Gross, J, Hansen, TVO, Harnett, P, Rookus, M, HEBON Investigators, , Heikkinen, T, Hein, R, Høgdall, C, Høgdall, E, Iversen, ES, Jakubowska, A, Johnatty, SE, Karlan, BY, Kauff, ND, Kaye, SB, Chenevix-Trench, G, kConFab Investigators and the Consortium of Investigators of Modifiers of BRCA1/2, , Kelemen, LE, Kiemeney, LA, Kjaer, SK, Lambrechts, D, Lapolla, JP, Lázaro, C, Le, ND, Leminen, A, Leunen, K, Levine, DA, Lu, Y, Lundvall, L, Macgregor, S, Marees, T, Massuger, LF, McLaughlin, JR, Menon, U, Montagna, M, Moysich, KB, Narod, SA, Nathanson, KL, Nedergaard, L, Ness, RB, Nevanlinna, H, Nickels, S, Osorio, A, Paul, J, Pearce, CL, Phelan, CM, Pike, MC, Radice, P, Rossing, MA, Schildkraut, JM, Sellers, TA, Singer, CF, Song, H, Stram, DO, Sutphen, R, Lindblom, A, SWE-BRCA Investigators, , Terry, KL, Tsai, Y-Y, van Altena, AM, Vergote, I, Vierkant, RA, Vitonis, AF, Walsh, C, Wang-Gohrke, S, Wappenschmidt, B, Wu, AH, Ziogas, A, Berchuck, A, Risch, HA, and Ovarian Cancer Association Consortium, . "The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing." Clinical Cancer Research : an Official Journal of the American Association for Cancer Research 17.11 (June 2011): 3742-3750.
PMID
21385923
Source
epmc
Published In
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
Volume
17
Issue
11
Publish Date
2011
Start Page
3742
End Page
3750
DOI
10.1158/1078-0432.CCR-10-3405

Proteomic analysis of stage I endometrial cancer tissue: identification of proteins associated with oxidative processes and inflammation.

OBJECTIVE: The present study aimed to identify differentially expressed proteins employing a high resolution mass spectrometry (MS)-based proteomic analysis of endometrial cancer cells harvested using laser microdissection. METHODS: A differential MS-based proteomic analysis was conducted from discrete epithelial cell populations gathered by laser microdissection from 91 pathologically reviewed stage I endometrial cancer tissue samples (79 endometrioid and 12 serous) and 10 samples of normal endometrium from postmenopausal women. Hierarchical cluster analysis of protein abundance levels derived from a spectral count analysis revealed a number of proteins whose expression levels were common as well as unique to both histologic types. An independent set of endometrial cancer specimens from 394 patients were used to externally validate the differential expression of select proteins. RESULTS: 209 differentially expressed proteins were identified in a comparison of stage I endometrial cancers and normal post-menopausal endometrium controls (Q<0.005). A number of differentially abundant proteins in stage I endometrial cancer were identified and independently validated by western blot and tissue microarray analyses. Multiple proteins identified with elevated abundance in stage I endometrial cancer are functionally associated with inflammation (annexins) and oxidative processes (peroxiredoxins). PRDX1 and ANXA2 were both confirmed as being overexpressed in stage I cancer compared to normal endometrium by independent TMA (Q=0.008 and Q=0.00002 respectively). CONCLUSIONS: These data provide the basis for further investigation of previously unrecognized novel pathways involved in early stage endometrial carcinogenesis and provide possible targets for prevention strategies that are inclusive of both endometrioid and serous histologic subtypes.

Authors
Maxwell, GL; Hood, BL; Day, R; Chandran, U; Kirchner, D; Kolli, VSK; Bateman, NW; Allard, J; Miller, C; Sun, M; Flint, MS; Zahn, C; Oliver, J; Banerjee, S; Litzi, T; Parwani, A; Sandburg, G; Rose, S; Becich, MJ; Berchuck, A; Kohn, E; Risinger, JI; Conrads, TP
MLA Citation
Maxwell, GL, Hood, BL, Day, R, Chandran, U, Kirchner, D, Kolli, VSK, Bateman, NW, Allard, J, Miller, C, Sun, M, Flint, MS, Zahn, C, Oliver, J, Banerjee, S, Litzi, T, Parwani, A, Sandburg, G, Rose, S, Becich, MJ, Berchuck, A, Kohn, E, Risinger, JI, and Conrads, TP. "Proteomic analysis of stage I endometrial cancer tissue: identification of proteins associated with oxidative processes and inflammation." Gynecologic Oncology 121.3 (June 2011): 586-594.
PMID
21458040
Source
epmc
Published In
Gynecologic Oncology
Volume
121
Issue
3
Publish Date
2011
Start Page
586
End Page
594
DOI
10.1016/j.ygyno.2011.02.031

Association of KRAS SNP rs61764370 with risk of invasive epithelial ovarian cancer: Implications for clinical testing

Authors
Berchuck, A; Pharoah, P; Ramus, S; Gayther, S; Palmieri, R; Pearce, C; Couch, F; Antonio, A; Goode, E; Schildkraut, J; Chenevix-Trench, G; Sellers, T; Risch, H; Modifiers, CI; Consortium, OCA
MLA Citation
Berchuck, A, Pharoah, P, Ramus, S, Gayther, S, Palmieri, R, Pearce, C, Couch, F, Antonio, A, Goode, E, Schildkraut, J, Chenevix-Trench, G, Sellers, T, Risch, H, Modifiers, CI, and Consortium, OCA. "Association of KRAS SNP rs61764370 with risk of invasive epithelial ovarian cancer: Implications for clinical testing." GYNECOLOGIC ONCOLOGY 121.2 (May 1, 2011): S2-S3.
Source
wos-lite
Published In
Gynecologic Oncology
Volume
121
Issue
2
Publish Date
2011
Start Page
S2
End Page
S3
DOI
10.1016/j.ygyno.2011.02.028

Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer.

Common germline genetic variation in the population is associated with susceptibility to epithelial ovarian cancer. Microcell-mediated chromosome transfer and expression microarray analysis identified nine genes associated with functional suppression of tumorogenicity in ovarian cancer cell lines; AIFM2, AKTIP, AXIN2, CASP5, FILIP1L, RBBP8, RGC32, RUVBL1 and STAG3. Sixty-three tagging single nucleotide polymorphisms (tSNPs) in these genes were genotyped in 1,799 invasive ovarian cancer cases and 3,045 controls to look for associations with disease risk. Two SNPs in RUVBL1, rs13063604 and rs7650365, were associated with increased risk of serous ovarian cancer [HetOR = 1.42 (1.15-1.74) and the HomOR = 1.63 (1.10-1.42), p-trend = 0.0002] and [HetOR = 0.97 (0.80-1.17), HomOR = 0.74 (0.58-0.93), p-trend = 0.009], respectively. We genotyped rs13063604 and rs7650365 in an additional 4,590 cases and 6,031 controls from ten sites from the United States, Europe and Australia; however, neither SNP was significant in Stage 2. We also evaluated the potential role of tSNPs in these nine genes in ovarian cancer development by testing for allele-specific loss of heterozygosity (LOH) in 286 primary ovarian tumours. We found frequent LOH for tSNPs in AXIN2, AKTIP and RGC32 (64, 46 and 34%, respectively) and one SNP, rs1637001, in STAG3 showed significant allele-specific LOH with loss of the common allele in 94% of informative tumours (p = 0.015). Array comparative genomic hybridisation indicated that this nonrandom allelic imbalance was due to amplification of the rare allele. In conclusion, we show evidence for the involvement of a common allele of STAG3 in the development of epithelial ovarian cancer.

Authors
Notaridou, M; Quaye, L; Dafou, D; Jones, C; Song, H; Høgdall, E; Kjaer, SK; Christensen, L; Høgdall, C; Blaakaer, J; McGuire, V; Wu, AH; Van Den Berg, DJ; Pike, MC; Gentry-Maharaj, A; Wozniak, E; Sher, T; Jacobs, IJ; Tyrer, J; Schildkraut, JM; Moorman, PG; Iversen, ES; Jakubowska, A; Mędrek, K; Lubiński, J; Ness, RB; Moysich, KB; Lurie, G; Wilkens, LR; Carney, ME; Wang-Gohrke, S; Doherty, JA; Rossing, MA; Beckmann, MW; Thiel, FC; Ekici, AB; Chen, X; Beesley, J; Australian Ovarian Cancer Study Group/Australian Cancer Study (Ovarian Cancer), ; Gronwald, J; Fasching, PA; Chang-Claude, J; Goodman, MT; Chenevix-Trench, G; Berchuck, A; Pearce, CL; Whittemore, AS; Menon, U; Pharoah, PDP; Gayther, SA; Ramus, SJ; Ovarian Cancer Association Consortium,
MLA Citation
Notaridou, M, Quaye, L, Dafou, D, Jones, C, Song, H, Høgdall, E, Kjaer, SK, Christensen, L, Høgdall, C, Blaakaer, J, McGuire, V, Wu, AH, Van Den Berg, DJ, Pike, MC, Gentry-Maharaj, A, Wozniak, E, Sher, T, Jacobs, IJ, Tyrer, J, Schildkraut, JM, Moorman, PG, Iversen, ES, Jakubowska, A, Mędrek, K, Lubiński, J, Ness, RB, Moysich, KB, Lurie, G, Wilkens, LR, Carney, ME, Wang-Gohrke, S, Doherty, JA, Rossing, MA, Beckmann, MW, Thiel, FC, Ekici, AB, Chen, X, Beesley, J, Australian Ovarian Cancer Study Group/Australian Cancer Study (Ovarian Cancer), , Gronwald, J, Fasching, PA, Chang-Claude, J, Goodman, MT, Chenevix-Trench, G, Berchuck, A, Pearce, CL, Whittemore, AS, Menon, U, Pharoah, PDP, Gayther, SA, Ramus, SJ, and Ovarian Cancer Association Consortium, . "Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer." International Journal of Cancer 128.9 (May 2011): 2063-2074.
PMID
20635389
Source
epmc
Published In
International Journal of Cancer
Volume
128
Issue
9
Publish Date
2011
Start Page
2063
End Page
2074
DOI
10.1002/ijc.25554

Xenobiotic-Metabolizing gene polymorphisms and ovarian cancer risk.

Because selected xenobiotic-metabolizing enzymes process pro-carcinogens that could initiate ovarian carcinogenesis, we hypothesized that single nucleotide polymorphisms (SNPs) in the genes encoding xenobiotic-metabolizing enzymes are associated with risk of ovarian cancer. Cases with invasive epithelial ovarian cancer (N = 1571 including 956 of serous sub-type) and controls (N = 2046) from three studies were genotyped at 11 SNPs in EPHX1, ADH4, ADH1A, NQO2, NAT2, GSTP1, CYP1A1, and NQO1, following an initial SNP screen in a subset of participants. Logistic regression analysis of genotypes obtained via Illumina GoldenGate and Sequenom iPlex technologies revealed the following age- and study-adjusted associations: EPHX1 rs1051740 with increased serous ovarian cancer risk [per-allele odds ratio (OR) 1.17, 95% confidence interval (95% CI) 1.04-1.32, P = 0.01), ADH4 r1042364 with decreased ovarian cancer risk (OR 0.90, 95% CI: 0.81-1.00, P = 0.05), and NQO1 rs291766 with increased ovarian cancer risk (OR 1.11, 95% CI: 1.00-1.23, P = 0.04). These findings are consistent with prior studies implicating these genes in carcinogenesis and suggest that this collection of variants is worthy of follow-up in additional studies.

Authors
Goode, EL; White, KL; Vierkant, RA; Phelan, CM; Cunningham, JM; Schildkraut, JM; Berchuck, A; Larson, MC; Fridley, BL; Olson, JE; Webb, PM; Chen, X; Beesley, J; Chenevix-Trench, G; Sellers, TA; Ovarian Cancer Association Consortium, ; Australian Ovarian Cancer Study Group,
MLA Citation
Goode, EL, White, KL, Vierkant, RA, Phelan, CM, Cunningham, JM, Schildkraut, JM, Berchuck, A, Larson, MC, Fridley, BL, Olson, JE, Webb, PM, Chen, X, Beesley, J, Chenevix-Trench, G, Sellers, TA, Ovarian Cancer Association Consortium, , and Australian Ovarian Cancer Study Group, . "Xenobiotic-Metabolizing gene polymorphisms and ovarian cancer risk." Mol Carcinog 50.5 (May 2011): 397-402.
PMID
21480392
Source
pubmed
Published In
Molecular Carcinogenesis
Volume
50
Issue
5
Publish Date
2011
Start Page
397
End Page
402
DOI
10.1002/mc.20714

Prostate cancer susceptibility polymorphism rs2660753 is not associated with invasive ovarian cancer.

We previously reported an association between rs2660753, a prostate cancer susceptibility polymorphism, and invasive epithelial ovarian cancer (EOC; OR = 1.2, 95% CI=1.0-1.4, P(trend) = 0.01) that showed a stronger association with the serous histological subtype (OR = 1.3, 95% CI = 1.1-1.5, P(trend) = 0.003).We sought to replicate this association in 12 other studies comprising 4,482 cases and 6,894 controls of white non-Hispanic ancestry in the Ovarian Cancer Association Consortium.No evidence for an association with all cancers or serous cancers was observed in a combined analysis of data from the replication studies (all: OR = 1.0, 95% CI = 0.9-1.1, P(trend) = 0.61; serous: OR = 1.0, 95% CI = 0.9-1.1, P(trend) = 0.85) or from the combined analysis of discovery and replication studies (all: OR = 1.0, 95% CI = 1.0-1.1, P(trend) = 0.28; serous: OR = 1.1, 95% CI = 1.0-1.2, P(trend) = 0.11). There was no evidence for statistical heterogeneity in ORs across the studies.Although rs2660753 is a strong prostate cancer susceptibility polymorphism, the association with another hormonally related cancer, invasive EOC, is not supported by this replication study.Our findings, based on a larger sample size, emphasize the importance of replicating potentially promising genetic risk associations.

Authors
Amankwah, EK; Kelemen, LE; Wang, Q; Song, H; Chenevix-Trench, G; Australian Ovarian Cancer Study Group, ; Beesley, J; Webb, PM; Australian Cancer Study (Ovarian Cancer), ; Pearce, CL; Wu, AH; Pike, MC; Stram, DO; Chang-Claude, J; Wang-Gohrke, S; Ness, RB; Goode, EL; Cunningham, JM; Fridley, BL; Vierkant, RA; Tworoger, SS; Whittemore, AS; McGuire, V; Sieh, W; Gayther, SA; Gentry-Maharaj, A; Menon, U; Ramus, SJ; Rossing, MA; Doherty, JA; Goodman, MT; Carney, ME; Lurie, G; Wilkens, LR; Kjær, SK; Høgdall, E; Cramer, DW; Terry, KL; Garcia-Closas, M; Yang, H; Lissowska, J; Anton-Culver, H; Ziogas, A; Schildkraut, JM; Berchuck, A; Pharoah, PDP; Ovarian Cancer Association Consortium,
MLA Citation
Amankwah, EK, Kelemen, LE, Wang, Q, Song, H, Chenevix-Trench, G, Australian Ovarian Cancer Study Group, , Beesley, J, Webb, PM, Australian Cancer Study (Ovarian Cancer), , Pearce, CL, Wu, AH, Pike, MC, Stram, DO, Chang-Claude, J, Wang-Gohrke, S, Ness, RB, Goode, EL, Cunningham, JM, Fridley, BL, Vierkant, RA, Tworoger, SS, Whittemore, AS, McGuire, V, Sieh, W, Gayther, SA, Gentry-Maharaj, A, Menon, U, Ramus, SJ, Rossing, MA, Doherty, JA, Goodman, MT, Carney, ME, Lurie, G, Wilkens, LR, Kjær, SK, Høgdall, E, Cramer, DW, Terry, KL, Garcia-Closas, M, Yang, H, Lissowska, J, Anton-Culver, H, Ziogas, A, Schildkraut, JM, Berchuck, A, Pharoah, PDP, and Ovarian Cancer Association Consortium, . "Prostate cancer susceptibility polymorphism rs2660753 is not associated with invasive ovarian cancer." Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology 20.5 (May 2011): 1028-1031.
PMID
21415361
Source
epmc
Published In
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology
Volume
20
Issue
5
Publish Date
2011
Start Page
1028
End Page
1031
DOI
10.1158/1055-9965.EPI-11-0053

Abstract 3014: Quantitative accuracy of Illumina HumanMethylation27 Infinium BeadChip data assessed by pyrosequencing

Authors
Huang, Z; Yamaguchi, K; Berchuck, A; Murphy, SK
MLA Citation
Huang, Z, Yamaguchi, K, Berchuck, A, and Murphy, SK. "Abstract 3014: Quantitative accuracy of Illumina HumanMethylation27 Infinium BeadChip data assessed by pyrosequencing." Cancer Research 71.8 Supplement (April 15, 2011): 3014-3014.
Source
crossref
Published In
Cancer Research
Volume
71
Issue
8 Supplement
Publish Date
2011
Start Page
3014
End Page
3014
DOI
10.1158/1538-7445.AM2011-3014

Dasatinib (BMS-35482) has synergistic activity with paclitaxel and carboplatin in ovarian cancer cells.

To explore the activity of dasatinib alone and in combination with paclitaxel and carboplatin in ovarian cancer cells and to determine if dasatinib activity can be predicted based on evaluation of the SRC pathway.Microarray analysis was performed for IGROV1, OVCAR3, A2780 and SKOV3 ovarian cancer cells and the status of the genomic SRC signature pathway was determined. Cells were treated with carboplatin, paclitaxel and dasatinib individually and in combination. Pre- and post-treatment phospho-SRC (pSRC) and SRC protein expression was determined. Dose-response curves were constructed, and drug interaction was assessed by the Combination Index (CI) method.SRC protein expression levels reflected the SRC pathway genomic signature in the cell lines with the lowest (SKOV3) and highest (IGROV1) pathway expression, but not in those with intermediate expression (OVCAR3, A2780). Dasatinib treatment caused loss of pSRC in all cell lines, with 50% growth inhibition for IGROV1 at 70 nM, OVCAR3 at 34 nM, A2780 at 4.1 μM and SKOV3 at 530 nM. Dasatinib combined with cytotoxics yielded a synergistic effect (CI=0.46 to 0.79) in all cell lines except SKOV3.Dasatinib in combination with standard chemotherapeutic agents appears to interact in a synergistic manner in some ovarian cancer cell lines. Further research is needed to evaluate tumor cell characteristics which predict response to dasatinib.

Authors
Teoh, D; Ayeni, TA; Rubatt, JM; Adams, DJ; Grace, L; Starr, MD; Barry, WT; Berchuck, A; Murphy, SK; Secord, AA
MLA Citation
Teoh, D, Ayeni, TA, Rubatt, JM, Adams, DJ, Grace, L, Starr, MD, Barry, WT, Berchuck, A, Murphy, SK, and Secord, AA. "Dasatinib (BMS-35482) has synergistic activity with paclitaxel and carboplatin in ovarian cancer cells." Gynecologic Oncology 121.1 (April 2011): 187-192.
PMID
21208651
Source
epmc
Published In
Gynecologic Oncology
Volume
121
Issue
1
Publish Date
2011
Start Page
187
End Page
192
DOI
10.1016/j.ygyno.2010.11.017

Prevention and early detection of cancer.

Authors
Berchuck, A; Einstein, MH
MLA Citation
Berchuck, A, and Einstein, MH. "Prevention and early detection of cancer." Gynecol Oncol 121.1 (April 2011): 1-.
PMID
21419284
Source
pubmed
Published In
Gynecologic Oncology
Volume
121
Issue
1
Publish Date
2011
Start Page
1
DOI
10.1016/j.ygyno.2011.02.009

Reduction of ovarian and oviductal cancers in calorie-restricted laying chickens.

Epithelial ovarian cancer (OVAC) remains a highly lethal malignancy. It is a leading cause of cancer deaths among women in the United States causing more deaths than all other gynecologic malignancies combined. The pathogenesis of OVAC is not completely understood, but the process of repeated ovulation is believed to lead to genetic damage in the ovarian epithelium. As part of a prospective trial designed to evaluate OVAC chemopreventive strategies using the chicken model, caloric restriction (55% less energy) was used to inhibit ovulation in groups of hens receiving chemopreventives, thereby minimizing the impact of ovulation on the incidence of reproductive tract cancer. A separate group of chickens was maintained concurrently in the same environment, and managed similarly, except that caloric intake was not restricted. Among birds not receiving chemopreventive agents, we compared caloric versus noncaloric restricted birds to determine the relations between calorie restriction and risk of developing adenocarcinoma of the reproductive tract. Mortality in the calorie-restricted group was almost half that of those on full feed. Calorie-restricted chickens maintained body weights averaging 1.423 kg compared with the full-fed birds at 1.892 kg. Ovulation rate varied with the full-fed group producing 64% more eggs than the calorie-restricted group. Total reproductive cancers occurred in 57 (33.3%) birds for the full-fed group and 26 (10.3%) birds for the calorie-restricted group. On the basis of histopathology, 45 (26.3%) birds in the full-fed group had ovarian adenocarcinoma compared with 16 (6.3%) birds in the calorie-restricted group. Calorie restriction in laying hens resulted in a near five-fold reduction in OVAC.

Authors
Carver, DK; Barnes, HJ; Anderson, KE; Petitte, JN; Whitaker, R; Berchuck, A; Rodriguez, GC
MLA Citation
Carver, DK, Barnes, HJ, Anderson, KE, Petitte, JN, Whitaker, R, Berchuck, A, and Rodriguez, GC. "Reduction of ovarian and oviductal cancers in calorie-restricted laying chickens." Cancer Prev Res (Phila) 4.4 (April 2011): 562-567.
PMID
21325563
Source
pubmed
Published In
Cancer Prevention Research
Volume
4
Issue
4
Publish Date
2011
Start Page
562
End Page
567
DOI
10.1158/1940-6207.CAPR-10-0294

Loss of ARID1A is a frequent event in clear cell and endometrioid ovarian cancers

Authors
Lowery, W; Schildkraut, J; Akushevich, L; Bentley, R; Huntsman, D; Marks, J; Berchuck, A
MLA Citation
Lowery, W, Schildkraut, J, Akushevich, L, Bentley, R, Huntsman, D, Marks, J, and Berchuck, A. "Loss of ARID1A is a frequent event in clear cell and endometrioid ovarian cancers." GYNECOLOGIC ONCOLOGY 121.1 (March 2011): S21-S21.
Source
wos-lite
Published In
Gynecologic Oncology
Volume
121
Issue
1
Publish Date
2011
Start Page
S21
End Page
S21
DOI
10.1016/j.ygyno.2010.12.054

DNA methylation markers associated with serous ovarian cancer subtypes

Authors
Chandavarkar, U; Campan, M; Houshdaran, S; Pearce, C; Shen, H; Widschwendter, M; Berchuck, A; Roman, L; Laird, P
MLA Citation
Chandavarkar, U, Campan, M, Houshdaran, S, Pearce, C, Shen, H, Widschwendter, M, Berchuck, A, Roman, L, and Laird, P. "DNA methylation markers associated with serous ovarian cancer subtypes." GYNECOLOGIC ONCOLOGY 121.1 (March 2011): S48-S48.
Source
wos-lite
Published In
Gynecologic Oncology
Volume
121
Issue
1
Publish Date
2011
Start Page
S48
End Page
S48
DOI
10.1016/j.ygyno.2010.12.117

Common single-nucleotide polymorphisms in the BNC2, HOXD1 and MERIT40 regions contribute significantly to racial differences in ovarian cancer incidence

Authors
Berchuck, A; Pike, M; Schildkraut, J; Pearce, C
MLA Citation
Berchuck, A, Pike, M, Schildkraut, J, and Pearce, C. "Common single-nucleotide polymorphisms in the BNC2, HOXD1 and MERIT40 regions contribute significantly to racial differences in ovarian cancer incidence." GYNECOLOGIC ONCOLOGY 121.1 (March 2011): S7-S7.
Source
wos-lite
Published In
Gynecologic Oncology
Volume
121
Issue
1
Publish Date
2011
Start Page
S7
End Page
S7
DOI
10.1016/j.ygyno.2010.12.019

Concordant gene expression profiles in matched primary and recurrent serous ovarian cancers predict platinum response

Authors
Sfakianos, G; Yan, J; Whitaker, R; Murphy, S; Berchuck, A
MLA Citation
Sfakianos, G, Yan, J, Whitaker, R, Murphy, S, and Berchuck, A. "Concordant gene expression profiles in matched primary and recurrent serous ovarian cancers predict platinum response." GYNECOLOGIC ONCOLOGY 121.1 (March 2011): S46-S46.
Source
wos-lite
Published In
Gynecologic Oncology
Volume
121
Issue
1
Publish Date
2011
Start Page
S46
End Page
S46
DOI
10.1016/j.ygyno.2010.12.112

Genes functionally regulated by methylation in ovarian cancer are involved in cell proliferation, development and morphogenesis

Authors
Yamaguchi, K; Baba, T; Konishi, I; Matsumura, N; Murphy, S; Huang, Z; Berchuck, A
MLA Citation
Yamaguchi, K, Baba, T, Konishi, I, Matsumura, N, Murphy, S, Huang, Z, and Berchuck, A. "Genes functionally regulated by methylation in ovarian cancer are involved in cell proliferation, development and morphogenesis." GYNECOLOGIC ONCOLOGY 121.1 (March 2011): S69-S69.
Source
wos-lite
Published In
Gynecologic Oncology
Volume
121
Issue
1
Publish Date
2011
Start Page
S69
End Page
S69
DOI
10.1016/j.ygyno.2010.12.165

Cost comparison of strategies for the management of venous thromboembolic event risk following laparotomy for ovarian cancer

Authors
Teoh, D; Myers, E; Berchuck, A; Alvarez-Secord, A; Lee, P; Lowery, W; Sfakiancs, G; Havrilesky, L
MLA Citation
Teoh, D, Myers, E, Berchuck, A, Alvarez-Secord, A, Lee, P, Lowery, W, Sfakiancs, G, and Havrilesky, L. "Cost comparison of strategies for the management of venous thromboembolic event risk following laparotomy for ovarian cancer." GYNECOLOGIC ONCOLOGY 121.1 (March 2011): S11-S11.
Source
wos-lite
Published In
Gynecologic Oncology
Volume
121
Issue
1
Publish Date
2011
Start Page
S11
End Page
S11
DOI
10.1016/j.ygyno.2010.12.031

Genomewide methylation analyses reveal a prominent role of HINF1 network genes, via hypomethylation, in ovarian clear cell carcinoma

Authors
Yamaguchi, K; Baba, T; Matsumura, N; Mandai, M; Konishi, I; Berchuck, A; Murphy, S
MLA Citation
Yamaguchi, K, Baba, T, Matsumura, N, Mandai, M, Konishi, I, Berchuck, A, and Murphy, S. "Genomewide methylation analyses reveal a prominent role of HINF1 network genes, via hypomethylation, in ovarian clear cell carcinoma." GYNECOLOGIC ONCOLOGY 121.1 (March 2011): S8-S8.
Source
wos-lite
Published In
Gynecologic Oncology
Volume
121
Issue
1
Publish Date
2011
Start Page
S8
End Page
S8
DOI
10.1016/j.ygyno.2010.12.021

BAD apoptosis pathway expression and survival from cancer

Authors
Lancaster, J; Chen, D; Marchion, D; Xiong, Y; Berchuck, A; Judson, P; Bosquet, JG; Wenham, R; Apte, S; Fulp, W
MLA Citation
Lancaster, J, Chen, D, Marchion, D, Xiong, Y, Berchuck, A, Judson, P, Bosquet, JG, Wenham, R, Apte, S, and Fulp, W. "BAD apoptosis pathway expression and survival from cancer." GYNECOLOGIC ONCOLOGY 121.1 (March 2011): S24-S24.
Source
wos-lite
Published In
Gynecologic Oncology
Volume
121
Issue
1
Publish Date
2011
Start Page
S24
End Page
S24
DOI
10.1016/j.ygyno.2010.12.060

Development of an ovarian cancer screening decision model that incorporates disease heterogeneity: implications for potential mortality reduction.

BACKGROUND: Pathologic and genetic data suggest that epithelial ovarian cancer may consist of indolent and aggressive phenotypes. The objective of the current study was to estimate the impact of a 2-phenotype paradigm of epithelial ovarian cancer on the mortality reduction achievable using available screening technologies. METHODS: The authors modified a Markov model of ovarian cancer natural history (the 1-phenotype model) to incorporate aggressive and indolent phenotypes (the 2-phenotype model) based on histopathologic criteria. Stage distribution, incidence, and mortality were calibrated to data from the Surveillance, Epidemiology, and End Results Program of the US National Cancer Institute. For validation, a Monte Carlo microsimulation (1000,000 events) of the United Kingdom Collaborative Trial of Ovarian Cancer Screening (UKCTOCS) multimodality prevalence screen was performed. Mortality reduction and positive predictive value (PPV) were estimated for annual screening. RESULTS: In validation against UKCTOCS data, the model-predicted percentage of screen-detected cancers diagnosed at stage I and II was 41% compared with 47% (UKCTOCS data), and the model-predicted PPV of screening was 27% compared with 35% (UKCTOCS data). The model-estimated PPV of a strategy of annual population-based screening in the United States at ages 50 to 85 years was 14%. The mortality reduction using annual postmenopausal screening was 14.7% (1-phenotype model) and 10.9% (2-phenotype model). Mortality reduction was lower with the 2-phenotype model than with the 1-phenotype model regardless of screening frequency or test sensitivity; 68% of cancer deaths are accounted for by the aggressive phenotype. CONCLUSIONS: The current analysis suggested that reductions in ovarian cancer mortality using available screening technologies on an annual basis are likely to be modest. A model that incorporated 2 clinical phenotypes of ovarian carcinoma into its natural history predicted an even smaller potential reduction in mortality because of the more frequent diagnosis of indolent cancers at early stages.

Authors
Havrilesky, LJ; Sanders, GD; Kulasingam, S; Chino, JP; Berchuck, A; Marks, JR; Myers, ER
MLA Citation
Havrilesky, LJ, Sanders, GD, Kulasingam, S, Chino, JP, Berchuck, A, Marks, JR, and Myers, ER. "Development of an ovarian cancer screening decision model that incorporates disease heterogeneity: implications for potential mortality reduction." Cancer 117.3 (February 1, 2011): 545-553.
PMID
21254049
Source
pubmed
Published In
Cancer
Volume
117
Issue
3
Publish Date
2011
Start Page
545
End Page
553
DOI
10.1002/cncr.25624

Erratum: Genomic signatures to guide the use of chemotherapeutics (Nature Medicine (2006) 12 (1294-1300))

Authors
Potti, A; Dressman, HK; Bild, A; Riedel, RF; Chan, G; Sayer, R; Cragun, J; Cottrill, H; Kelley, MJ; Petersen, R; Harpole, D; Marks, J; Berchuck, A; Ginsburg, GS; Febbo, P; Lancaster, J; Nevins, JR
MLA Citation
Potti, A, Dressman, HK, Bild, A, Riedel, RF, Chan, G, Sayer, R, Cragun, J, Cottrill, H, Kelley, MJ, Petersen, R, Harpole, D, Marks, J, Berchuck, A, Ginsburg, GS, Febbo, P, Lancaster, J, and Nevins, JR. "Erratum: Genomic signatures to guide the use of chemotherapeutics (Nature Medicine (2006) 12 (1294-1300))." Nature Medicine 17.1 (January 1, 2011): 135-null.
Source
scopus
Published In
Nature Medicine
Volume
17
Issue
1
Publish Date
2011
Start Page
135
DOI
10.1038/nm0111-135

Epigenetic suppression of the TGF-beta pathway revealed by transcriptome profiling in ovarian cancer.

Epithelial ovarian cancer is the leading cause of deat