胚系BRCA基因突变乳腺癌的临床诊治进展

Progress in clinical treatment of germline BRCA-mutated breast cancer

BRCA基因是最常见的乳腺癌易感基因,胚系BRCA突变患者罹患乳腺癌的风险显著增加。随着对BRCA基因的深入研究以及聚ADP-核糖聚合酶(poly ADP-ribose polymerase,PARP)抑制剂的出现,BRCA突变已成为乳腺癌治疗的新靶点。在BRCA突变乳腺癌的治疗中,PARP抑制剂和铂类为两大主要药物选择。传统化疗药物铂类在BRCA突变晚期患者治疗中疗效明确,PARP抑制剂在BRCA突变乳腺癌新辅助、辅助及晚期治疗中亦展现出显著疗效。本文就BRCA突变乳腺癌相关治疗进展进行综述,以期为BRCA突变乳腺癌临床诊治提供指导。

The risk of breast cancer is considerably increased in patients with BRCA mutation,the most common breast cancer susceptibility gene.With in-depth research of BRCA genes and the advent of PARP inhibitors,BRCA has become a new treatment target,primarily using platinum and PARP inhibitors.Platinum,the traditional chemotherapy drug,has clear efficacy in treating BRCA-mutated advanced breast cancer,while PARP inhibitors also exhibit significant efficacy as neoadjuvant or adjuvant treatment.This study reviews the progress in the treatment of BRCA-mutated breast cancer and provides guidance for the clinical diagnosis and treatment of BRCA-mutated breast cancer.