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Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation.
Ikenoue, Tsuneo; Yamaguchi, Kiyoshi; Komura, Mitsuhiro; Imoto, Seiya; Yamaguchi, Rui; Shimizu, Eigo; Kasuya, Shinichi; Shibuya, Tetsuo; Hatakeyama, Seira; Miyano, Satoru; Furukawa, Yoichi.
Affiliation
  • Ikenoue T; Division of Clinical Genome Research, Advanced Clinical Research Center, The Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
  • Yamaguchi K; Division of Clinical Genome Research, Advanced Clinical Research Center, The Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
  • Komura M; Laboratory of DNA Information Analysis, Human Genome Center, The Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
  • Imoto S; Laboratory of DNA Information Analysis, Human Genome Center, The Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
  • Yamaguchi R; Laboratory of Sequence Analysis, Human Genome Center, The Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
  • Shimizu E; Laboratory of DNA Information Analysis, Human Genome Center, The Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
  • Kasuya S; Laboratory of DNA Information Analysis, Human Genome Center, The Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
  • Shibuya T; Laboratory of Sequence Analysis, Human Genome Center, The Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
  • Hatakeyama S; Division of Clinical Genome Research, Advanced Clinical Research Center, The Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
  • Miyano S; 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.
  • Furukawa Y; Division of Clinical Genome Research, Advanced Clinical Research Center, The Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
Hum Genome Var ; 2: 15011, 2015.
Article in En | MEDLINE | ID: mdl-27081525
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Hum Genome Var Year: 2015 Document type: Article Affiliation country: Japan
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Hum Genome Var Year: 2015 Document type: Article Affiliation country: Japan