遗传性非息肉病性结直肠癌(hereditary non-opolyposis colorectal cancer,HNPCC)是错配修复基因(mismatch repair gene,MMR)突变,DNA复制时错配修复系统功能缺陷导致的常染色体显性遗传性疾病。HNPCC是临床最常见的遗传性结直肠癌,约占全部结直肠癌的5%~15%[1]。其发生的分子 Hereditary non-opiogenic colorectal cancer (HNPCC) is a mismatch repair gene (MMR) mutation that causes autosomal dominant inheritance due to functional defects in mismatch repair systems during DNA replication disease. HNPCC is the clinical most common hereditary colorectal cancer, accounting for about 5% to 15% of all colorectal cancer [1]. The molecule that happened