Silencing this silent killer: Using genetic testing to detect and treat ovarian cancer

Sara CrockerNovember 9, 2022
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Ovarian cancer often grows in silence, with only about 20 percent of tumors caught in the early stages. The challenge: early screening is unreliable and symptoms that categorically point to the disease are often lacking. However, one way women can mitigate their risk for ovarian cancer is through genetic testing.

Linking Ovarian Cancer to Genetic Mutations

The roots of genetic testing date back to the 1950s with the discovery of the additional chromosome that causes Down Syndrome. In the 1980s and 1990s, geneticists began identifying the genes responsible for inherited conditions like sickle cell anemia. The Human Genome Project, completed in 2003, decoded the DNA instructions within our cells and made that data available to scientists and engineers, unlocking broader genetic testing. Geneticists have found that some gene mutations – typos in the body’s instruction manual to create cells – can increase the risk for some cancers, such as breast and ovarian.

Currently, 11 genetic mutations are recognized by the National Comprehensive Cancer Network for increasing the risk of developing ovarian cancer: BRCA1, BRCA2, BRIP1, MLH1, MSH2, MSH6, PMS2, EPCAM, PALB2, RAD51C and RAD51D.

Casey Swanson, a physician assistant in obstetrics and gynecology, specializes in hereditary ovarian cancer at Mayo Clinic’s Minnesota campus. She encounters women of all ages who seek genetic testing, either because they or a family member has been diagnosed with ovarian cancer, or just to understand their own risk.
Understanding Your Risk

Ovarian cancer is rare – making up just 1 percent of cancers that will be diagnosed this year. Because the cancer can be hard to detect until it has advanced to later, deadly stages, and less than half of the 19,880 women who are diagnosed this year will survive longer than five years.

“Most women are fearful with the thought of developing and dying of ovarian cancer,” Swanson says, noting that ovarian cancer is the fifth most common cause of cancer death in women. “Many have witnessed family members who have undergone treatment for ovarian cancer and very possibly passed away.”

Take tennis legend Chris Evert, who sought genetic testing after losing her sister to ovarian cancer. The results showed a pathogenic variant of the BRCA1 gene. Evert opted to have a risk reducing surgery with ovary and Fallopian tube removal, which revealed stage 1 ovarian cancer that she was able to treat earlier this year with chemotherapy. While doctors caution that having one of these genetic mutations is not a guarantee a person will get that cancer, it can increase one’s risk by as much as 60 percent.

Seeking Genetic Counseling and Testing

Because of that, Swanson says it’s important for people to understand their family cancer history, ancestry and the presence of abnormal cells, which can all help in understanding your risk and determining if you should seek genetic testing. At Mayo Clinic, you can meet with a genetic counselor who can take you through that process.

“Genetic counselors are essential to genetic testing at Mayo Clinic,” Swanson says. “They assist patients by helping them make genetic testing decisions, preparing them for positive and negative test results, helping interpret genetic testing results, discussing insurance concerns and helping navigate insurance approval.”

If you or a family member learns of a genetic mutation linked to ovarian cancer, Swanson recommends all immediate relatives – parents, siblings and children – meet with a genetic counselor and likewise discuss testing. Outside providers can refer people to Mayo Clinic for genetic counseling: “We can follow them through this journey,” Swanson says, “freeing referring physicians to take care of patients’ other medical concerns.”

To avoid overlooking ovarian cancer in its early stages, Dr. Butler, gynecologic oncologist surgeon at Mayo Clinic Comprehensive Cancer Center in Arizona, emphasizes the importance of being attuned to your body and monitoring new or worsening symptoms. “I think the best screening is being attentive to your body,” she says. “When something doesn’t seem right, seek evaluation. Symptoms of ovarian cancer include bloating, abdominal pain, urgency of urination and early fullness after a meal. When these symptoms are new and occur about two weeks out of the month, seeking assessment is key.”

Advanced-stage ovarian cancer has a higher rate of recurrence, and Dr. Butler says early detection is important to improve survival. “If we’re able to detect it at stage 1 or 2, the recurrence rates are far lower often with the combination of surgery and chemotherapy,” she says. Therefore, it’s important to know the symptoms and your genetic risk factors.

Visit Mayo Clinic’s website for more information about cancer care or call 520-524-3158.


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