遗传性非息肉病性结直肠癌的分子生物学研究现状

摘要

Hereditary nonpolyposis colorectal cancer ( HNPCC ) is different from sporadic colorectal cancer as its pathogenesis has not been well studied.The underlying pathogenesis of HNPCC is mainly the defect in DNA mismatch repair gene system,such as hMLH1 and hMSH2, resulting in the failure of repairing DNA sequence error in replication.In addition, it is also related to microsatellite instability, such as CpG island methylation,TGF-β/Smad, Wnt/β-catenin signaling pathway invloved in HNPCC invasion and metastasis.%遗传性非息肉病性结直肠癌(HNPCC)不同于散发的结直肠癌,其发病机制至今仍未研究透彻.它的发病基础主要是DNA错配修复基因系统的缺陷,如hMLH1、hMSH2等,不能把复制过程中出现的DNA序列的错误纠正过来,从而引起了肿瘤的发生.另外,它还与微卫星不稳定性有关,如CpG岛的甲基化.转化生长因子β/Smad、Wnt/β-catenin信息通路参与了HNPCC的侵袭和转移过程.