title: 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.
authors.affiliation: Division of Clinical Genome Research, Advanced Clinical Research Center, The Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
authors.forename: Tsuneo
authors.initials: T
authors.lastname: Ikenoue
authors.affiliation: Division of Clinical Genome Research, Advanced Clinical Research Center, The Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Yamaguchi
authors.affiliation: Laboratory of DNA Information Analysis, Human Genome Center, The Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Komura
authors.affiliation: Laboratory of DNA Information Analysis, Human Genome Center, The Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
authors.forename: Seiya
authors.initials: S
authors.lastname: Imoto
authors.affiliation: Laboratory of Sequence Analysis, Human Genome Center, The Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
authors.forename: Rui
authors.initials: R
authors.lastname: Yamaguchi
authors.affiliation: Laboratory of DNA Information Analysis, Human Genome Center, The Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
authors.forename: Eigo
authors.initials: E
authors.lastname: Shimizu
authors.affiliation: Laboratory of DNA Information Analysis, Human Genome Center, The Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
authors.forename: Shinichi
authors.initials: S
authors.lastname: Kasuya
authors.affiliation: Laboratory of Sequence Analysis, Human Genome Center, The Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Shibuya
authors.affiliation: Division of Clinical Genome Research, Advanced Clinical Research Center, The Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
authors.forename: Seira
authors.initials: S
authors.lastname: Hatakeyama
authors.affiliation: 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.
authors.forename: Satoru
authors.initials: S
authors.lastname: Miyano
authors.affiliation: Division of Clinical Genome Research, Advanced Clinical Research Center, The Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Furukawa