AGA Clinical Practice Update on Colorectal and Pancreatic Cancer Risk and Screening in BRCA1 and BRCA2 Carriers: Commentary

Abstract

Genetic testing for hereditary cancer syndromes is becoming increasingly common. Carriers of BRCA1 or BRCA2 pathogenic variants (ie, mutations) are among the most commonly identified in hereditary cancer risk assessment. BRCA1 and BRCA2 encode proteins involved in homologous recombination and double-stranded DNA break repair. Germline pathogenic variants in BRCA1 and BRCA2 are highly penetrant for breast cancer and ovarian cancer, conferring lifetime risks of up to 85% of breast cancer and 20%–40% for ovarian cancer,1 and have implications for efficacy of targeted therapies in several cancers.