Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation

Tsuneo Ikenoue; Kiyoshi Yamaguchi; Mitsuhiro Komura; Seiya Imoto; Rui Yamaguchi; Eigo Shimizu; Shinichi Kasuya; Tetsuo Shibuya; Seira Hatakeyama; Satoru Miyano; Yoichi Furukawa

doi:10.1038/hgv.2015.11

Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation

Hum Genome Var. 2015 Mar 26:2:15011. doi: 10.1038/hgv.2015.11. eCollection 2015.

Affiliations

¹ Division of Clinical Genome Research, Advanced Clinical Research Center, The Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
² Laboratory of DNA Information Analysis, Human Genome Center, The Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
³ Laboratory of Sequence Analysis, Human Genome Center, The Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
⁴ Laboratory of DNA Information Analysis, Human Genome Center, The Institute of Medical Science, The University of Tokyo, Tokyo, Japan; Laboratory of Sequence Analysis, Human Genome Center, The Institute of Medical Science, The University of Tokyo, Tokyo, Japan.

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.