As part of an ongoing series of answers to common questions received by the Basser Center for BRCA, Executive Director Susan Domchek, MD, discusses how BRCA mutations impact men, including which cancers they are at hereditary risk for and recommendations for screening.
Dr. Domchek: This is related to men with BRCA1/2 mutations. Again, it's really important to state unequivocally that if you knew every BRCA1/2 mutation carrier in the world, half of them would be men. There are significant issues for men as well, not only in the fact that they can pass along BRCA1/2 mutations to their children, but there are risks to them as well. This is particularly true for BRCA2, where the risks of male breast cancer, prostate cancer, and pancreatic cancer are clearly elevated in BRCA2 mutation carriers who are men. For BRCA1, there are also risks, though they are lower, but they still include an increased risk of male breast cancer, potentially prostate cancer and pancreatic cancer. But the risks are definitely higher for BRCA2.
In terms of the recommendations for screening, we are still gathering evidence for the best practices, but we certainly do recommend prostate cancer screening in individuals with BRCA1/2 mutations and that's really different than in the general population, where we're not certain about the role of PSA screening. In addition, pancreatic cancer screening studies are underway using things like endoscopic ultrasound to see if these can be effective in diagnosing pancreatic cancer early. It's very important for men to pay attention to their breasts and make sure that they're getting clinical breast exams. And mammograms can be useful depending on the specifics of an individual situation.