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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Detalles Bibliográficos
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
Descripción
Sumario: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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