Cancer

Cancer risks associated with BRCA1 and BRCA2: Overview and management

Follow

Abstract

The BRCA1 and BRCA2 tumor suppressor genes are integral to the repair of DNA double-strand breaks. Therefore, germline pathogenic variants (PVs) in either of these genes are associated with an increased risk of developing hereditary cancers. For over 30 years, studies have demonstrated a well established and markedly increased lifetime risk of female breast cancer and ovarian cancer for individuals with a PV in BRCA1 or BRCA2. Additional canonical cancers include prostate cancer, pancreatic cancer for males and females, and male breast cancer. Several noncanonical cancers have also been reported in association with BRCA1 or BRCA2, including stomach cancer and endometrial cancer. This review summarizes the established and evolving cancer risks associated with germline PVs in BRCA1 or BRCA2 as well as current clinical management recommendations. With increased uptake and diversified utility of germline genetic testing, this summary provides a current overview for clinical management of both male and female individuals with a PV in BRCA1 or BRCA2.