Testing for BRCA mutations is an important step in developing the treatment plan for patients with breast cancer, says Leslie Randall.
For patients with ovarian cancer, early identification of BRCA mutations will significantly help in determining a treatment plan, says Leslie Randall.
What is the importance of early BRCA testing?
In an interview with CURE, Randall, associate professor, gynecology/ oncology, 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. Early BRCA testing is very important for several reasons, the most of which is identifying patients who have a 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.
What are the current recommendations for BRCA testing?
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. 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, SGO, National Genetic Counselor’s Society and also the American Congress of Obstetrics and Gynecology. All of these come together in what we called the Genetic Summit to discuss how strongly we recommend BRCA testing in 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.
How prevalent are BRCA mutations in patients with ovarian cancer?
The level of evidence to support it is about a Level B if you look at the Preventative Taskforce Levels of Evidence. 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 percent.
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 germ-line 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.