遗传性结直肠癌包括家族性腺瘤性息肉病引起的结直肠癌及遗传性非息肉性结直肠癌，总发病率约占结直肠癌的１５％左右。遗传性结直肠癌的基因定位是近年来结直肠癌分子生物学研究的重大进展，对预防、早期诊断、早期治疗及术后随访具有重大意义。本文就新近发现的家族性腺瘤性息肉病综合征及遗传性非息肉病大肠癌综合征基因定位（ＡＰＣ及ＭＭＲ）作一综述 Hereditary colorectal cancer includes colorectal cancer caused by familial adenomatous polyposis and hereditary non-polyposis colorectal cancer. The total incidence is about 15% of colorectal cancer. The genetic location of hereditary colorectal cancer is a major advancement in molecular biology research of colorectal cancer in recent years, and it is of great significance for prevention, early diagnosis, early treatment and postoperative follow-up. This article reviews the recently discovered gene signatures (APC and MMR) of familial adenomatous polyposis syndrome and hereditary non-polyposis colorectal cancer syndromes.