Catalog

Familial nonpolyposis colorectal cancer

No MMS code

Link to WHO Definition

Familial nonpolyposis colorectal cancer – http://id.who.int/icd/entity/545664807

An autosomal dominant hereditary neoplastic syndrome characterised by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). The increased risk for these cancers is due to inherited mutations that impair DNA mismatch repair In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present.