【摘要】 乳腺癌易感基因1/2(breast cancer susceptibility gene 1/2,BRCA1/2)是重要的抑癌基因，BRCA1/2胚系突变（germline BRCA1/2 mutation,gBRCA1/2m）携带者罹患乳腺癌、卵巢癌、前列腺癌等恶性肿瘤的风险显著升高。近年来，二代测序检测技术的普及和靶向药物的研发促使gBRCA1/2m乳腺癌的诊疗格局发生变革。本文将从临床特征、检测规范、手术治疗、化疗以及靶向治疗等角度对gBRCA1/2m乳腺癌的最新进展进行综述，以期为gBRCA1/2m乳腺癌患者提供最新的临床诊治依据。更多还原

【Abstract】 Breast cancer susceptibility gene 1/2(BRCA1/2) are important tumor-suppressor genes. Germline BRCA1/2 mutation(g BRCA1/2m) carriers have a significantly increased risk of breast, ovarian, and prostate cancer and other malignancies. In recent years, the popularization of next-generation sequencing technology and the development of targeted drugs have led to changes in the diagnosis and treatment of breast cancer patients with gBRCA1/2m. This article reviews the latest progress in research on gBRCA1/2m-related breast cancer from the perspective of clinical characteristics, the standardization of genetic testing, surgical treatment, chemotherapy, and targeted therapy, to provide evidence for the clinical diagnosis and treatment of breast cancer patients with gBRCA1/2m.更多还原