Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation

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...

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Autores principales: Ikenoue, Tsuneo, Yamaguchi, Kiyoshi, Komura, Mitsuhiro, Imoto, Seiya, Yamaguchi, Rui, Shimizu, Eigo, Kasuya, Shinichi, Shibuya, Tetsuo, Hatakeyama, Seira, Miyano, Satoru, Furukawa, Yoichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785566/
https://www.ncbi.nlm.nih.gov/pubmed/27081525
http://dx.doi.org/10.1038/hgv.2015.11
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author Ikenoue, Tsuneo
Yamaguchi, Kiyoshi
Komura, Mitsuhiro
Imoto, Seiya
Yamaguchi, Rui
Shimizu, Eigo
Kasuya, Shinichi
Shibuya, Tetsuo
Hatakeyama, Seira
Miyano, Satoru
Furukawa, Yoichi
author_facet Ikenoue, Tsuneo
Yamaguchi, Kiyoshi
Komura, Mitsuhiro
Imoto, Seiya
Yamaguchi, Rui
Shimizu, Eigo
Kasuya, Shinichi
Shibuya, Tetsuo
Hatakeyama, Seira
Miyano, Satoru
Furukawa, Yoichi
author_sort Ikenoue, Tsuneo
collection PubMed
description 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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spelling pubmed-47855662016-04-14 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 Hum Genome Var Data Report 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. Nature Publishing Group 2015-03-26 /pmc/articles/PMC4785566/ /pubmed/27081525 http://dx.doi.org/10.1038/hgv.2015.11 Text en Copyright © 2015 The Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/
spellingShingle Data Report
Ikenoue, Tsuneo
Yamaguchi, Kiyoshi
Komura, Mitsuhiro
Imoto, Seiya
Yamaguchi, Rui
Shimizu, Eigo
Kasuya, Shinichi
Shibuya, Tetsuo
Hatakeyama, Seira
Miyano, Satoru
Furukawa, Yoichi
Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation
title Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation
title_full Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation
title_fullStr Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation
title_full_unstemmed Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation
title_short Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation
title_sort attenuated familial adenomatous polyposis with desmoids caused by an apc mutation
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785566/
https://www.ncbi.nlm.nih.gov/pubmed/27081525
http://dx.doi.org/10.1038/hgv.2015.11
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