Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype.

ABSTRACT: BACKGROUND:Development of more than 100 colorectal adenomas is diagnostic of the dominantly inherited autosomal disease familial adenomatous polyposis (FAP). Germline mutations can be identified in the adenomatous polyposis coli (APC) gene in approximately 80% of patients. The APC protein comprises several regions and domains for interaction with other proteins, and specific clinical manifestations are associated with the mutation assignment to one of these regions or domains. AIMS:The phenotype in patients without an identified causative APC mutation was compared with the phenotype in patients with a known APC mutation and with the phenotypes characteristic of patients with mutations in specific APC regions and domains. PATIENTS:Data on 121 FAP probands and 149 call up patients from 70 di

SUBMITTER: Bisgaard ML 

PROVIDER: S-EPMC1774914 | biostudies-literature | 2004 Feb

REPOSITORIES: biostudies-literature