Pathogenic variants (ie, mutations) in the breast cancer susceptibility 1 and 2 (BRCA1/2) genes are associated with a high risk of ovarian and female breast cancer as well as, particularly for BRCA2, elevated risks of male breast cancer, aggressive prostate cancer, and pancreatic cancer. The risks of ovarian cancer and breast cancer are as high as 45% and 70%, respectively. The detection of a BRCA1/2 pathogenic variant can significantly alter medical management (by early detection or risk reduction strategies) and improve outcomes.
Domchek S, Robson M. Broadening Criteria for BRCA1/2 Evaluation: Placing the USPSTF Recommendation in Context. JAMA. 2019;322(7):619–621. doi:10.1001/jama.2019.9688
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