Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation.

ABSTRACT: We present here a case of attenuated familial adenomatous polyposis (AFAP) with a family history of desmoids and thyroid tumors. This patient had no colonic polyps but did have multiple desmoids. Genetic analysis identified a 4-bp deletion in codon 2644 (c.7932_7935delTTAT: p.Tyr2645LysfsX14) of the adenomatous polyposis coli (APC) gene. In cases with limited numbers of colonic polyps and desmoids, AFAP may be caused by a mutation in the 3' region of APC.

SUBMITTER: Ikenoue T 

PROVIDER: S-EPMC4785566 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature