概述
The presence of a constitutional deleterious variant [pathogenic or likely pathogenic variant (PV)] in the BRCA1/BRCA2 (BRCA) genes is associated with an increased risk for developing breast and ovarian cancers. Current evidence indicates that BRCA1/2 PVs are also associated with pancreatic cancer, and that BRCA2 PVs are associated with prostate cancer risk, but with lower penetrance. Following the introduction of poly(ADP)ribose polymerase (PARP) inhibitors in clinical practice, the demand for BRCA genetic testing is rapidly and continuously increasing. Knowledge of the presence of a BRCA PV provides useful information of prognostic and predictive value, to predict the efficacy of cancer treatment and estimate individual and familial risk.