Genetic Testing for Ovarian Cancer
- Many women with ovarian cancer are not offered genetic testing
- Genetic testing helps identify important gene mutations that are relevant to ovarian cancer treatment
- Somatic mutations can be passed on from parents to children
- Germline mutations testing of the tumor itself can help inform treatment decisions for ovarian cancer
“The importance of genetic testing in patients with ovarian cancer cannot be overstated,” says Dr. Ramez Eskander, gynecologic oncologist at the University of California, San Diego. “Genetic testing may not only inform and guide treatment decisions, but it’s also important for identifying opportunities for future treatment strategies.”Read More
“If family members test positive for the BRCA mutation, they can have a risk-reducing surgery to prevent the cancer from developing in the first place,” Dr. Eskander says. “So, not only does genetic testing in the germline matter for the patient, but it has really important implications for family members who may be tested and identified to carry the mutation before they’re ever diagnosed with a cancer.”
Doctors can also test the tumor itself to identify mutations that triggered the cancer. These accumulated changes that occur after you were born and throughout your life are called somatic changes. “There may be mutations in the tumor itself that are not inherited, but are still important to guide treatment decisions,” Dr. Eskander explains. Doctors can even test the tumor’s response to different treatments after tissue is removed during a surgical resection.
Genetic testing, both germline and somatic, can now play an important role in which treatment protocol your oncologist selects for your ovarian cancer. For example, studies show that patients with a BRCA mutation often respond particularly well to PARP inhibitor drugs; these drugs work by preventing cancer cells from repairing their genetic material when damaged, causing them to die.
While initially, women with a BRCA-1 or BRCA-2 genetic mutation had been shown to respond especially well to PARP inhibitors when given after recurrence, newer research has shown that women with the BRCA gene mutation (and indeed almost all women) can consider using PARP inhibitors throughout their treatment. The Food and Drug Administration has now approved niraparib (brand name ZEJULA) for almost all women regardless of whether they have the BRCA mutation, as part of an initial course of treatment, or what's called front-line treatment.
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.
If you test positive for BRCA1 or BRCA2, chances are good that your oncologist will use that information to determine which treatment protocol is right for you.