BRCA1/2胚系突变乳腺癌临床诊疗进展  

Progress in clinical diagnosis and treatment of germline BRCA1/2 mutation-related breast cancer

作　　者：王嘉 王杉(综述) 金锋(审校)[2] Jia Wang;Shan Wang;Feng Jin(Department of Breast Surgery,Second Affiliated Hospital of Dalian Medical University,Dalian 116000,China;Department of Breast Surgery,The First Hospital of China Medical University,Shenyang 110000,China)

机构地区：[1]大连医科大学附属第二医院乳腺外科,辽宁省大连市116000 [2]中国医科大学附属第一医院乳腺外科

出　　处：《中国肿瘤临床》2024年第18期957-962,共6页Chinese Journal of Clinical Oncology

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。Breast cancer susceptibility gene 1/2(BRCA1/2)are important tumor-suppressor genes.Germline BRCA1/2 mutation(gBRCA1/2m)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.

关 键 词：BRCA1/2胚系突变 手术治疗 药物治疗 预后 

分 类 号：R737.9[医药卫生—肿瘤]