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遗传性非息肉病性结直肠癌(hered itary nonpolyp-osis colorectal cancer,HNPCC)是一种常染色体显性遗传疾病综合征,由错配修复(m ismatch repair,MMR)基因种系突变引起,占所有结直肠癌的5%~10%[1,2]。HNPCC的发病与人类错配修复基因功能异常密切相关,已定位并克隆的人MMR基因
Hereditary nonpolypolysicocolorectal cancer (HNPCC) is an autosomal dominant genetic disease syndrome caused by the germline mutation of m ismatch repair (MMR) gene, accounting for All colorectal cancer 5% to 10% [1,2]. The incidence of HNPCC is closely related to the dysfunction of human mismatch repair genes. The human MMR gene that has been mapped and cloned