乳腺癌家系遗传易感基因研究进展  

Progress in identifying genetic susceptibility genes for familial breast cancer

作　　者：张海莲 张世超 于津浦 刘俊田 Hailian Zhang;Shichao Zhang;Jinpu Yu;Juntian Liu(The Second Department of Breast Oncology,2.Department of Biotherapy,Tianjin Medical University Cancer Institute and Hospital,National Clinical Research Center for Cancer,Tianjin Key Laboratory of Cancer Prevention and Therapy;Tianjin＇s Clinical Research Center for Cancer,Key Laboratory of Breast Cancer Prevention and Therapy,Tianjin 300060,China)

机构地区：[1]天津医科大学肿瘤医院乳腺二科国家肿瘤临床医学研究中心天津市肿瘤防治重点实验室天津市恶性肿瘤临床医学研究中心乳腺癌防治教育部重点实验室,天津市300060 [2]天津医科大学肿瘤医院生物治疗科,天津市300060

出　　处：《中国肿瘤临床》2018年第21期1113-1116,共4页Chinese Journal of Clinical Oncology

摘　　要：乳腺癌是女性最常见的一种恶性肿瘤,随着细胞生物学和分子生物技术的不断发展,对乳腺癌发病机制的研究也取得了长足进展。家族性乳腺癌与遗传易感基因的突变密切相关,已筛选出3大类乳腺癌遗传相关的高、中、低外显率易感基因,致病基因突变及基因多态性高危位点如何进行鉴定,是对具有遗传倾向性乳腺癌的研究重点,本文将就乳腺癌家系遗传易感基因的研究进展进行综述。Breast cancer is the most common malignant tumor in women. With the development of cell biology and molecular biotechnology, great progress has been made in the study of the pathogenesis of breast cancer. Familial breast cancer is closely related to the mutation of susceptible genes. Selected susceptible genes of breast cancer can be grouped into three categories： high-, medium-,and low-penetrance susceptible genes. The means of identifying the high-risk sites of pathogenic mutation and genetic polymorphism is the focus of research on the genetic predisposition of breast cancer.

关 键 词：家族性乳腺癌 遗传易感基因 基因筛查技术 治疗 

分 类 号：R737.9[医药卫生—肿瘤]