BRCA-Associated Breast Cancer and Male Breast Cancer
摘要
BRCA1 and BRCA2 mutations are the most encountered pathogenic mutations associated with hereditary breast cancer. In addition to increasing the risk of breast cancer, BRCA1 and BRCA2 mutations increase the risk of melanoma, prostate, pancreatic, and ovarian cancers. All patients should have a thorough personal and family history obtained to determine their likelihood of familial cancer susceptibility and should be referred to a genetic counselor if they are at high risk. Patients with deleterious BRCA1 and BRCA2 mutations may be managed with increased surveillance, risk reduction surgery, or risk-reducing medications. BRCA mutation carriers with a diagnosis of breast cancer are treated in similar fashion to breast cancer patients without a familial predisposition for breast cancer. Male breast cancer is rare, accounting for less than 1% of breast cancer cases in the United States. Men with BRCA mutations, particularly BRCA2 mutations, are at increased risk of breast cancer, as well as melanoma, prostate, and pancreatic cancer. While male breast cancer is often diagnosed at a more advanced stage, male patient outcomes are similar to female patient outcomes stage for stage. There is a smaller volume of evidence-based data for the treatment of male breast cancer, and so guidelines for the treatment of male breast cancer are based on those for the treatment of female breast cancer.