遗传性非腺瘤病性结直肠癌的诊治进展

遗传性非腺瘤病性结直肠癌（HNPCC）是一种常染色体显性遗传的综合症，占总的结直肠癌的56%--10%。该病由错配修复基因缺陷造成，肿瘤表现出高度的微卫星不稳。临床上辨别HNPCC患者对诊断和治疗以及监测HNPCC家庭成员发病有指导意义。

Advances in diagnosis and treatment of hereditary nonpolyposis colorectal cancer

Hereditary nonpolyposis colorectal cancer (HNPCC) is a distinct autosomal dominant syndrome, accounting for 5%-10% of the total colorectal cancer population. To date, we have noticed that patients with HNPCC inherit a germline mutation in one of the genes responsible for repair of DNA mismatch errors. Tumors of HNPCC show a high frequency of microsatellite instability. Identifying individuals afflicted with HNPCC has implications for surgical management, prognosis, follow up, and surveillance of HNPCC patients and family members at risk.