From the Duke Cancer Institute archives. Content may be out of date.
The Right Team at the Right Time
Rebecca Cook poses with her family on the last day of her latest round of chemotherapy treatments — July 21, 2021. Her cancer is currently in remission.
A DCI breast cancer care team joins forces with a genetics counselor to treat mother with high-risk genetic syndrome; prompting testing, then preventative screening for her kids.
Living a good life at age 35, Rebecca Cook thought she had more time before she needed to start thinking about screening for breast cancer. After all, she was a young mom of four kids who successfully managed to breastfeed for the past seven years, including a set of twins. (Breastfeeding, she had heard, is believed to lower breast cancer risk.)
And she thought time was on her side. (Cook hadn’t yet reached age 40, the recommended age to start screening women of average risk.)
But in February of 2020, as news reports began to swirl about the emergence in the U.S. of a potentially deadly virus, COVID-19, Cook found herself facing her own health crisis — a diagnosis of stage 3 inflammatory breast cancer.
She described the next few months on chemotherapy — 16 rounds of infusions at a clinic close to home in Norfolk, Virginia — as a whirlwind. Due to pandemic-safety rules, she was forced to attend her treatments in isolation — without the comfort of family or friends by her side.
Genetic Testing
Her doctors then suggested genetic testing, which revealed a rare, inherited, genetic disorder — Li Fraumeni Syndrome. The condition, identified by mutations in the TP53 gene, had predisposed her to cancer — not only the breast cancer she already had, but perhaps additional cancers down the road.
Cook said she felt "the deep and dark void of depression looming."
With the new diagnosis of Li Fraumeni Syndrome and with her cancer showing little sign of improvement, she requested a referral for more specialized care at Duke Cancer Institute.
"When I first arrived at Duke, I had that feeling that something was different," shared Cook. "It was a feeling that started to illuminate my dark path."
From her first appointment, she felt like she'd gained a fresh start with a care team that included breast surgical oncologist Lisa Tolnitch, MD, breast medical oncologist Michael Spiritos, MD, and radiation oncologist Diandra Ayala-Peacock, MD, as well as genetic counselor Elizabeth Wignall, MS, CGC, with the Duke Supportive Care & Survivorship Center’s Clinical Cancer Genetics program.
First, she'd undergo a double mastectomy. Unfortunately, the pathology results from her surgery showed that cancer was still present.
“The news is not what I wanted to hear, but I knew that I could put all my faith in their care,” said Cook, who then began a regimen of 14 more cycles of chemotherapy and intensive radiation at Duke Women's Cancer Care Raleigh.
When she walked into the initial appointment with genetic counselor Wignall, she was preoccupied. She wondered, "What could I have done differently?"
Wignall helped her to stop dwelling on the past and shift her focus to the future.
Because LFS is associated with a high lifetime risk for cancer — including, most commonly, soft tissue sarcomas, bone cancers (osteosarcomas), premenopausal breast cancers, colon cancer, gastric cancer, adrenal cortical tumors, and brain tumors — she advised Cook about the various types and timing of preventative scans she should undergo in order to detect any new cancers at the earliest stage possible. (More than one type of cancer may occur in the same person.)
In addition, knowing that there was a 50% chance her children shared her LFS diagnosis (and on Wignall's recommendation), Cook had her children tested for LFS. The tests came back positive for two of her four children. Next, Wignall worked with a team at Duke Children’s to get those children scheduled for preventative cancer scans — testing that will continue on a regular basis for the foreseeable future.
Taking action for herself and for her children gave Cook hope.
"Working with Elizabeth helped me to embrace that LFS is now part of my life story, NOT the defining moment of it," she shared. “While my heart may break that I passed on this gene to my kids, Duke provides a great genetics team to give us hope, as we walk this journey. Elizabeth's guidance has empowered me to educate my children that LFS is not something to be feared.They can carry on a 'normal' life. Their life just means more frequent scans, and being very aware of their bodies and any changes."
Support & Care: Rebecca Cook has all the love and support of her family and an all encompassing care team that has her back.
Cook completed the latest round of chemo treatments in July and was soon after declared "in remission." Over Labor Day weekend, she was able to participate and cross the finish line of her first half marathon.
“As much as I strive to keep the cancer away, keeping my mental health strong in this journey has been just as important. Running, counseling, medication, a healthy diet and medical providers that value mental health all help me do that,” she said.
Julie Poucher Harbin, Senior Writer, DCI, contributed to this report.
For decades, cancer screening has focused on detecting one cancer at a time through tests such as mammograms, colonoscopies, cervical cancer screenings, and lung cancer screening. While these tests save lives, many cancers still lack recommended screening options and often are not detected until symptoms develop.One of the greatest challenges in cancer care is that many cancers are discovered after they have progressed to more advanced stages. At that point, treatment can be more intensive and outcomes may be less favorable.Multi-cancer early detection (MCED) tests represent a new approach that could change that. MCED tests are blood tests designed to look for signals associated with multiple types of cancer at the same time. Rather than focusing on a single disease, these tests analyze fragments of genetic material and other biomarkers that circulate in the bloodstream. If an abnormal pattern is detected, the test may identify a potential cancer signal and, in some cases, suggest where in the body that signal originated.“MCED testing may help identify certain cancers before symptoms appear, creating opportunities for earlier evaluation and treatment,” said Kevin Oeffinger, MD, director of the Duke Cancer Institute (DCI) Center for Onco-Primary Care and co-director of the Supportive Care and Survivorship Center.Researchers and clinicians are particularly interested in the potential of MCED tests to help detect cancers that currently have no routine screening recommendations. MCED testing may offer another tool for finding some of these cancers earlier.Although MCED testing holds considerable promise, experts emphasize that patients and healthcare providers should understand both its advantages and its current limitations.MCED testing may be most appropriate for adults age 50 and older, as cancer risk increases with age. It may also be considered for younger individuals who have a higher risk of cancer because of factors such as family history, a personal history of cancer, lifestyle factors, or certain medical conditions.Importantly, MCED tests do not diagnose cancer. A positive result signals the need for additional testing to determine whether cancer is present and, if so, what type of cancer it may be.Like all screening tools, MCED tests have limitations. False-positive results can occur, meaning a cancer signal is detected when no cancer is present. False-negative results are also possible, as some cancers may not release detectable signals into the bloodstream.Experts also stress that MCED testing is not a replacement for recommended cancer screenings.“Patients should continue to receive all age- and risk-appropriate screenings, including mammograms, colonoscopies, cervical cancer screening, prostate cancer screening, and lung cancer screening,” Oeffinger said.Currently, MCED tests have not received FDA approval and are available as laboratory-developed tests while additional research continues. While many healthcare organizations can order an MCED test, the Duke Center for Onco-Primary Care offers a dedicated MCED clinic that begins with an individualized discussion about a patient's health history, cancer risk factors, and screening goals.Patients receive education and counseling before testing, assistance with coordinating the test itself, support in understanding results, and guidance through any recommended follow-up evaluations. Rather than leaving patients to interpret complex information on their own, Duke provides coordinated care throughout the testing and diagnostic pathway.As research continues, Duke's experts believe MCED testing has the potential to become an important addition to cancer screening strategies.“Duke's approach ensures patients have access to expert guidance, evidence-based recommendations, and coordinated care every step of the way,” Oeffinger said.To learn more about the MCED Clinic or to make an appointment, visit dukehealth.org/mced-test, or call 919-613-3333.
For decades, cancer screening has focused on detecting one cancer at a time through tests such as mammograms, colonoscopies, cervical cancer screenings, and lung cancer screening. While these tests save lives, many cancers still lack recommended screening options and often are not detected until symptoms develop.One of the greatest challenges in cancer care is that many cancers are discovered after they have progressed to more advanced stages. At that point, treatment can be more intensive and outcomes may be less favorable.Multi-cancer early detection (MCED) tests represent a new approach that could change that. MCED tests are blood tests designed to look for signals associated with multiple types of cancer at the same time. Rather than focusing on a single disease, these tests analyze fragments of genetic material and other biomarkers that circulate in the bloodstream. If an abnormal pattern is detected, the test may identify a potential cancer signal and, in some cases, suggest where in the body that signal originated.“MCED testing may help identify certain cancers before symptoms appear, creating opportunities for earlier evaluation and treatment,” said Kevin Oeffinger, MD, director of the Duke Cancer Institute (DCI) Center for Onco-Primary Care and co-director of the Supportive Care and Survivorship Center.Researchers and clinicians are particularly interested in the potential of MCED tests to help detect cancers that currently have no routine screening recommendations. MCED testing may offer another tool for finding some of these cancers earlier.Although MCED testing holds considerable promise, experts emphasize that patients and healthcare providers should understand both its advantages and its current limitations.MCED testing may be most appropriate for adults age 50 and older, as cancer risk increases with age. It may also be considered for younger individuals who have a higher risk of cancer because of factors such as family history, a personal history of cancer, lifestyle factors, or certain medical conditions.Importantly, MCED tests do not diagnose cancer. A positive result signals the need for additional testing to determine whether cancer is present and, if so, what type of cancer it may be.Like all screening tools, MCED tests have limitations. False-positive results can occur, meaning a cancer signal is detected when no cancer is present. False-negative results are also possible, as some cancers may not release detectable signals into the bloodstream.Experts also stress that MCED testing is not a replacement for recommended cancer screenings.“Patients should continue to receive all age- and risk-appropriate screenings, including mammograms, colonoscopies, cervical cancer screening, prostate cancer screening, and lung cancer screening,” Oeffinger said.Currently, MCED tests have not received FDA approval and are available as laboratory-developed tests while additional research continues. While many healthcare organizations can order an MCED test, the Duke Center for Onco-Primary Care offers a dedicated MCED clinic that begins with an individualized discussion about a patient's health history, cancer risk factors, and screening goals.Patients receive education and counseling before testing, assistance with coordinating the test itself, support in understanding results, and guidance through any recommended follow-up evaluations. Rather than leaving patients to interpret complex information on their own, Duke provides coordinated care throughout the testing and diagnostic pathway.As research continues, Duke's experts believe MCED testing has the potential to become an important addition to cancer screening strategies.“Duke's approach ensures patients have access to expert guidance, evidence-based recommendations, and coordinated care every step of the way,” Oeffinger said.To learn more about the MCED Clinic or to make an appointment, visit dukehealth.org/mced-test, or call 919-613-3333.
