Nadine M. Tung, MD, from Beth Israel Deaconess Medical Center, discussed the importance of germline testing in patients with breast cancer at the San Antonio Breast Cancer Symposium, held December 10-14, in San Antonio, Texas.
So, I think when taking care of patients with breast cancer, it is really important to understand which patients have an inherited risk to breast cancer. We’ve tested for BRCA1 and BRCA2 mutations for a long time, now there are other genes that we know about, but with high risk and moderate risk it’s important to know which of our patients have an inherited mutation because it informs us about what other cancers they may be at risk for in the future. It also informs us for their relatives who might be at risk and should have different prevention and screening strategies. But increasingly, it’s also informing us about what’s the optimal treatment to treat that particular breast cancer, whether it is the specific chemotherapy, whether it’s use of a PARP inhibitor, so it’s important to understand who should have genetic testing. So, the threshold for who should have genetic testing for breast and ovarian cancer genes such as BRCA1 and BRCA2 is really being lowered consistently.
The NCCN guidelines, for example, keep lowering the bar and it’s important for us all to stay informed about that. I think that it is also very important when we’re doing more and more tumor testing to identify which of the results from the tumor genomic profiling should trigger a referral for germline testing. And so it’s important for breast medical oncologists to really understand what is the list of cancer susceptibility genes, and if the tumor profiling has a mutation, a pathogenic variant, or a likely pathogenic variant in one of those cancer risk genes, it really is important to refer the patient for germline genetic testing.