中国Lynch综合征的过去、现在和将来

Research progress of Lynch syndrome in China

遗传性结直肠癌是指基因种系突变所致的结直肠癌,可按孟德尔遗传定律遗传给后代。引起遗传性结直肠癌的一系列疾病称为遗传性结直肠癌综合征。Lynch综合征是最常见的遗传性结直肠癌综合征,致病基因属于错配修复基因家族,具有发病年龄早、肿瘤好发于近端结肠、肠外恶性肿瘤常见等临床特征。本文就我国关于该病的研究,尤其是基因突变研究作一综述,以供国内同行参考。

Hereditary colorectal cancer is associated with germline mutations that can inherit in accordance with Mendel’ s law.A series of diseases that can cause hereditary colorectal cancer are called hereditary colorectal cancer syndromes,among which Lynch syndrome is the most common one .Lynch syndrome is caused by germline mutations of mismatch repair genes,which is characterized by early onset of malignancy,a predilection for the proximal colon,and the frequent occurrence of extracolonic cancers .This review summarizes studies, especially genetic studies of Lynch syndrome in China , hoping to help Chinese doctors better diagnose and treat patients.