Cáncer de mama hereditario

Abstract

Up to 10 % of breast cancer (BC) patients have inherited germline mutations, often leading to loss of function of genes involved in DNA repair and cell cycle checkpoint activation. In addition to the BRCA1 and BRCA2 genes, an association with high or moderate risk of breast cancer has been established for other genes such as PALB2, ATM, and CHEK2. The incorporation of NGS techniques to the genetic study allows their identification. Healthy and affected carrier individuals may benefit from recommendations for early detection and risk reduction measures. Currently, treatment options are limited for patients with gBRCA-mutated BC. Poly(ADP-ribose) polymerase (PARP) inhibitors are a targeted therapeutic option that have shown activity in hereditary breast cancer.