BRCA基因在肿瘤预防与高危人群管理中的作用  

BRCA gene detection for cancer prevention and management in the high risk population

作　　者：许雅鑫 刘茹 王启哲 刘明[2] 江孙芳 Xu Yaxin;Liu Ru;Wang Qizhe;Liu Ming;Jiang Sunfang(Department of General Practice,Zhongshan Hospital of Fudan University,Shanghai 200032,China;Health Management Center,Zhongshan Hospital of Fudan University,Shanghai 200032,China)

机构地区：[1]复旦大学附属中山医院全科医学科,上海200032 [2]复旦大学附属中山医院健康管理中心,上海200032

出　　处：《中华全科医师杂志》2021年第11期1192-1198,共7页Chinese Journal of General Practitioners

基　　金：上海市医学领军人才项目(2019LJ15)。

摘　　要：乳腺癌易感基因(BRCA)是重要的抑癌基因,其突变与乳腺癌、卵巢癌、胰腺癌、前列腺癌等肿瘤的发生相关。本文综述近年来BRCA基因突变与相关肿瘤关系的研究显示,BRCA基因突变携带者发生乳腺癌、卵巢癌的风险是正常人群的数十倍,其胰腺癌、前列腺癌、直肠癌的发生率也远高于正常人群,对于符合一定条件的高风险人群,早期进行BRCA基因检测可评估多种肿瘤的发病风险、制定风险管理策略,更好地做到早发现、早诊断、早治疗,改善恶性肿瘤预后。Breast cancer susceptibility gene(BRCA)is a tumor suppressor gene.The carriers of BRCA mutation have a significantly higher risk of breast,ovarian,pancreatic,prostate and rectal cancers than the general population.BRCA gene detection can effectively evaluate the risk of relevant malignant tumors.In this article,the recent research progress on the relationship between BRCA gene mutations and related cancers is summarized,and the roles of BRCA gene testing in the prevention and management of relevant malignant tumors are discussed.

关 键 词：基因 BRCA1 基因 BRCA2 基因测定 肿瘤 预防 健康管理 

分 类 号：R730.5[医药卫生—肿瘤]