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Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis
Familial adenomatous polyposis (FAP) is an autosomal dominant disorder characterized by the development of hundreds to thousands of colonic adenomas and an increased risk of colorectal cancer. Adenomatous polyposis coli (APC), encoding a large multidomain protein involved in antagonizing the Wnt sig...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Netherlands
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4999466/ https://www.ncbi.nlm.nih.gov/pubmed/27000756 http://dx.doi.org/10.1007/s13277-016-4986-1 |
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author | Liu, Qi Li, Xiaoxia Li, Sen Qu, Shengqiang Wang, Yu Tang, Qingzhu Ma, Hongwei Luo, Yang |
author_facet | Liu, Qi Li, Xiaoxia Li, Sen Qu, Shengqiang Wang, Yu Tang, Qingzhu Ma, Hongwei Luo, Yang |
author_sort | Liu, Qi |
collection | PubMed |
description | Familial adenomatous polyposis (FAP) is an autosomal dominant disorder characterized by the development of hundreds to thousands of colonic adenomas and an increased risk of colorectal cancer. Adenomatous polyposis coli (APC), encoding a large multidomain protein involved in antagonizing the Wnt signaling pathway, has been identified as the main causative gene responsible for FAP. In this study, we identified three novel mutations as well as two recurrent mutations in the APC in five Chinese FAP families by sequencing. Immunohistochemical analysis revealed that among these mutations, a nonsense mutation (c.2510C>G) and two small deletions (c.2016_2047del, c.3180_3184del) led to the truncation of the APC protein and the cytoplasmic and nuclear accumulation of β-catenin in the colorectal samples from affected individuals, respectively. Our study expands the database on mutations of APC and provides evidence to understand the function of APC in FAP. |
format | Online Article Text |
id | pubmed-4999466 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Springer Netherlands |
record_format | MEDLINE/PubMed |
spelling | pubmed-49994662016-09-12 Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis Liu, Qi Li, Xiaoxia Li, Sen Qu, Shengqiang Wang, Yu Tang, Qingzhu Ma, Hongwei Luo, Yang Tumour Biol Original Article Familial adenomatous polyposis (FAP) is an autosomal dominant disorder characterized by the development of hundreds to thousands of colonic adenomas and an increased risk of colorectal cancer. Adenomatous polyposis coli (APC), encoding a large multidomain protein involved in antagonizing the Wnt signaling pathway, has been identified as the main causative gene responsible for FAP. In this study, we identified three novel mutations as well as two recurrent mutations in the APC in five Chinese FAP families by sequencing. Immunohistochemical analysis revealed that among these mutations, a nonsense mutation (c.2510C>G) and two small deletions (c.2016_2047del, c.3180_3184del) led to the truncation of the APC protein and the cytoplasmic and nuclear accumulation of β-catenin in the colorectal samples from affected individuals, respectively. Our study expands the database on mutations of APC and provides evidence to understand the function of APC in FAP. Springer Netherlands 2016-03-22 /pmc/articles/PMC4999466/ /pubmed/27000756 http://dx.doi.org/10.1007/s13277-016-4986-1 Text en © The Author(s) 2016 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. |
spellingShingle | Original Article Liu, Qi Li, Xiaoxia Li, Sen Qu, Shengqiang Wang, Yu Tang, Qingzhu Ma, Hongwei Luo, Yang Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis |
title | Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis |
title_full | Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis |
title_fullStr | Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis |
title_full_unstemmed | Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis |
title_short | Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis |
title_sort | three novel mutations of apc gene in chinese patients with familial adenomatous polyposis |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4999466/ https://www.ncbi.nlm.nih.gov/pubmed/27000756 http://dx.doi.org/10.1007/s13277-016-4986-1 |
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