National guidelines recommend that women with a personal history of ovarian cancer be tested for the BRCA mutation. Approximately 1.3% of women will develop ovarian cancer, according to the National Cancer Institute, but that risk increases to an estimated 39% in women with the BRCA1 mutation and 11% to 17% in women who inherit the BRCA2 mutation.
Leslie Randall, MD
Leslie Randall, MD
National guidelines recommend that women with a personal history of ovarian cancer be tested for the BRCA mutation. Approximately 1.3% of women will develop ovarian cancer, according to the National Cancer Institute, but that risk increases to an estimated 39% in women with the BRCA1 mutation and 11% to 17% in women who inherit the BRCA2 mutation. In addition to the importance of having this information for family members who may be impacted, early identification of BRCA mutations in women with ovarian cancer can significantly help inform their future treatment choices.
In an interview with Oncology Nursing News, Leslie Randall, MD, associate professor, gynecology/ oncology at the University of California Irvine, discusses the importance of BRCA testing and the generally accepted guidelines for these tests. She says the tests are strongly recommended for all patients with ovarian cancer.
Oncology Nursing News: What is the importance of early BRCA testing?
Randall: Early BRCA testing is very important for several reasons, the most important of which is identifying patients who have specific tumor biology. Patients with BRCA mutations tend to be more platinum-sensitive than patients who don't have those mutations. They're also eligible for different clinical trials than patients who don't have those mutations. In addition to that, identifying these patients will identify them for later on in their treatment line for things like PARP inhibitor therapy, as well as identify those whose family members should maybe be tested for genetic mutations.
What are the current recommendations for BRCA testing?
BRCA testing is recommended for all of our invasive ovarian cancer patients to include fallopian tube and peritoneal cancer. Those guidelines are endorsed by the NCCN, ASCO, the Society of Gynecologic Oncology, National Society of Genetic Counselors, and also the American Congress of Obstetrics and Gynecology. All of these came together in what we called the Genetic Summit to discuss how strongly we recommend BRCA testing for our ovarian cancer patients. We all strongly recommend it, and are somewhat disenchanted that it hasn't been happening at the rates we would like to see, though I think it was significantly improved within the last year. The level of evidence to support it is about a Level B if you look at the US Preventive Services Task Force Levels of Evidence.
How prevalent are BRCA mutations in patients with ovarian cancer?
I always say that the more we test, the more we'll learn that more patients have it. Currently, we think the prevalence of BRCA mutations in ovarian cancer patients is about 20%.
What is the difference in terms of germline versus somatic BRCA alterations, and is one more important than the other?
Germline and somatic mutations are both important. Germline mutations are the ones that are inherited, so you're born with a germline mutation in BRCA1, you can pass that on to your offspring. Somatic mutations happen only in the tumor. Somatic mutations can't be inherited—they can't be passed on to future generations—so that's the very important distinction between germline and somatic mutations. I think they're both important because they are both associated with responses to BRCA-specific therapies like PARP inhibition.