遗传性结直肠癌基因检测及其在临床上的应用规范化问题  

Genetic testing of inherited colorectal cancer and its laboratory standards in clinical application

作　　者：姜烈君[1] 陆晓旭[1] 黄华艺[1,2] 

机构地区：[1]广西壮族自治区人民医院检验科,广西南宁530021 [2]美国罗斯威尔帕克癌症研究所肿瘤外科,纽约布法罗14263

出　　处：《分子诊断与治疗杂志》2016年第2期135-141,共7页Journal of Molecular Diagnostics and Therapy

摘　　要：遗传性结直肠癌是一类多因素遗传特征家族性疾病,包括Lynch综合征、家族结直肠腺瘤性息肉和MYH相关性息肉,约占所有结直肠癌的5%。Lynch综合征(又称遗传性非息肉性结直肠癌)是因无效的错误配对修复(mismatch repair,MMR)而导致微卫星不稳定性(microsatellite instability,MSI)的一系列相关癌症,常由MMR基因(MLH1、MSH2、MSH6和PMS2)突变引起。家族性结直肠腺瘤性息肉(familial adenomatous polyposis,FAP)是APC基因突变引起的广泛性结肠息肉病。而MUTYH基因突变可引起MYH相关性息肉(MYH-associated polyposis,MAP)。为了规范对遗传性结直肠癌的分子诊断技术流程,美国医学遗传学和基因组学会制定检测大纲以供各相关实验室参考。本文对该大纲进行归纳并结合我国的大纲进行讨论。Inherited colorectal cancer（Lynch syndrome, familial adenomatous polyposis, and mut Y homolog（MYH）-associated polyposis） is a type of multifactor inherited familial diseases which accounts for about 5% of all colorectal cancers. Lynch syndrome is typically recognized as an assemblage of associated cancers characterized by defective mismatch repair（MMR） leading to microsatellite instability（MSI） usually caused by the mutation of the MMR gene（MLH1, MSH2, MSH6, and PMS2）. Familial adenomatous polyposis（FAP） is caused by mutations in the APC gene while MYH-associated polyposis（MAP） is caused by mutations in the MUTYH gene. In order to assist clinical laboratories to develop and validate testing for this group of inherited colorectal cancers in China, this paper discusses the technical standards and guidelines for genetic testing of inherited colorectal cancer established by China＇s peers in reference to the standards and guidelines developed by American College of Medical Genetics and Genomics.

关 键 词：遗传性结直肠癌 家族性腺瘤样息肉 LYNCH综合征 MYH相关性息肉 基因检测 

分 类 号：R735.34[医药卫生—肿瘤] R440[医药卫生—临床医学]