Lynch综合征与肿瘤遗传咨询  

Lynch Syndrome and Cancer Genetic Counseling

作　　者：王若涣 董林 杨琳 Wang Ruohuan;Dong Lin;Yang Lin(2.Department of Pathology, National Cancer Center/NationalClinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing, 100021, China)

机构地区：[1]四川成都市树德中学,四川成都610091 [2]国家癌症中心/国家肿瘤临床医学研究中心/中国医学科学院北京协和医学院肿瘤医院病理科,北京100021

出　　处：《当代医学》2019年第14期192-194,共3页Contemporary Medicine

基　　金：国家重点研发计划(2017YFC1311005)

摘　　要：Lynch综合征为结直肠癌中最常见的遗传性肿瘤综合征,由错配修复基因(Mismatch repair,MMR)突变所导致,本文回顾了Lynch综合征研究简史、分子机制、临床诊断及遗传学筛查方式,旨在认识分子检测方法在肿瘤遗传咨询中的应用。Lynch syndrome is the most common hereditary neoplasm syndrome in colorectal cancer. It is caused by mutation of mismatch repair gene(MMR). This article reviews its brief history, molecular mechanism, clinical diagnosis and genetic screening tragedy, with the aim of understanding the application of molecular detection methods in cancer genetic counseling.

关 键 词：LYNCH综合征 遗传学筛查 分子诊断 

分 类 号：R735.34[医药卫生—肿瘤]