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Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis.

ABSTRACT: 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 ?-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.

SUBMITTER: Liu Q 

PROVIDER: S-EPMC4999466 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature

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Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis.

Liu Qi Q   Li Xiaoxia X   Li Sen S   Qu Shengqiang S   Wang Yu Y   Tang Qingzhu Q   Ma Hongwei H   Luo Yang Y  

Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 20160322 8

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  ...[more]

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