How Genes Can Shape A Woman's Ovarian Cancer Care, And Her Family's Medical Decisions

"Many women have heard of BRCA mutations," Dr. Zempolich says. Normally, the BRCA1 and BRCA2 genes protect you against cancer by helping your cells repair broken DNA that can turn the cells cancerous. But when these genes are changed, or mutated, cells can no longer fix themselves.

People who inherit the BRCA gene mutations are more likely to get not only ovarian cancer, but also breast cancer. There are also many other genes that contribute to ovarian cancer, which genetic testing can reveal. Getting tested can also help your doctor make more informed decisions about your treatment.

Opening Up New Treatment Avenues

Learning that you have a genetic mutation is not only important for determining your risk of ovarian and breast cancers, but it also gives your doctor the chance to use a whole new set of medicines against ovarian cancer that could improve your survival, Dr. Zempolich says.

Normally when a strand of DNA is damaged, enzymes called PARPs rush in to fix the damage. New medicines called PARP inhibitors "help counteract that protective mechanism," she says. Cancer cells can't finish the repair process, so they stop growing and spreading.

PARP inhibitor drugs work best in women who have BRCA1 and BRCA2 mutations, because the cancer cells are already at a loss to repair themselves. Taking PARP inhibitors can extend the time before a woman's cancer comes back, and possibly prolong her survival.

Most recently, the American Society of Clinical Oncology (ASCO) released new guidelines recommending PARP inhibitors be offered to women, with or without genetic mutations, who are newly diagnosed with stage III or IV ovarian cancer and have improved with chemotherapy.

Informing Family Medical Decisions

If a woman has a BRCA or other gene mutation, there may be a good chance that her family members carry it too, since these mutations are inherited. Families with BRCA mutations and multiple cases of ovarian and/or breast cancers are said to have a cancer predisposition syndrome called Hereditary Breast and Ovarian Cancer Syndrome (HBOC).

Knowing their genetic status can inform important health decisions for everyone in the family. Women who test positive for genes linked to ovarian cancer may want to consider having prophylactic surgery, removing their ovaries and fallopian tubes to prevent cancer from developing in the future.

It's important for men to also consider their genetic risks. The gene mutations that are linked to ovarian cancer also increase the risk for breast cancer (which men can get too), as well as for colon cancer, melanoma, and upper GI tract cancers, Dr. Zempolich says.

Getting Tested

Once you've been diagnosed with ovarian cancer, your doctor will likely send you for genetic testing. Most insurance companies should cover the cost, Dr. Zempolich says.

If your doctor isn't sure whether you have a familial ovarian cancer syndrome, you can meet with a genetic counselor to determine what, if any, testing you need. The counselor can "help you decide whether or not that’s an important part of your journey with this cancer," she adds.

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