BRCA1/2突变乳腺癌临床诊治新进展——机遇和挑战  

Progress of clinical management in patients with breast cancer carrying BRCA1/2 germline pathogenic mutations——opportunities and challenges

作　　者：万琪婷 孙洁[1] 胡丽 解云涛[1] Qiting Wan;Jie Sun;Li Hu;Yuntao Xie(Familial&Hereditary Cancer Center,Peking University Cancer Hospital&Institute,Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education),Beijing 100142,China)

机构地区：[1]北京大学肿瘤医院家族遗传性肿瘤中心,恶性肿瘤发病机制及转化研究教育部重点实验室,北京市100142

出　　处：《中国肿瘤临床》2022年第23期1190-1195,共6页Chinese Journal of Clinical Oncology

基　　金：国家自然科学基金项目(编号:81772824、81802635)资助。

摘　　要：BRCA1/2胚系突乳腺癌具有特殊的发病机制及临床病理特征,其临床决策有别于散发性乳腺癌。随着基因测序技术的发展,越来越多的BRCA1/2突变乳腺癌被检测出。BRCA1/2突变乳腺癌的相关临床管理越来越得到重视。本文总结近年来的相关文献,对BRCA1/2突变乳腺癌患者的基因检测和手术、化疗、靶向治疗等诊疗进展进行综述,以期为BRCA1/2突变患者的临床决策提供帮助。Patients with breast cancer carrying BRCA1/2 germline pathogenic mutations have a unique pathogenesis and clinicopathological characteristics,with potentially different clinical management,when compared to patients with sporadic breast cancers.A growing number of BRCA1/2-mutated breast cancers have been detected with the development of next-generation sequencing,which has led to an increasing interest in clinical management of these patients.In this review,we summarize recent studies on genetic testing and systematic treatment,including surgery,chemotherapy,and targeted therapy,to assist in treatment decisions for BRCA1/2-mutated breast cancers.

关 键 词：BRCA1/2基因 临床决策 手术 PARP抑制剂 

分 类 号：R737.9[医药卫生—肿瘤]