Breast Cancer and BRCA1 and BRCA2 Pathogenic Variants

Abstract

Breast cancer remains the most common female cancer worldwide. The majority will arise spontaneously, with almost a third having a heritable component. Approximately 5–10% of all breast cancers will have a strong inherited element with pathogenic variants in the BRCA1 and BRCA2 amongst the most studied breast cancer genes. An overview of breast cancer is provided with references to the clinical and pathological features in BRCA1 and BRCA2 related cancers. The roles of PARP inhibitors and immunotherapy are discussed. The management of healthy individuals harbouring a pathogenic variant in the two genes is reviewed and future directions considered.