title: 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 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.
authors.affiliation: The Research Center for Medical Genomics, MOH Key Laboratory of Cell Biology and Key Laboratory of Medical Cell Biology, Ministry of Education, China Medical University, Shenyang, 110122, China.
authors.forename: Qi
authors.initials: Q
authors.lastname: Liu
authors.affiliation: Department of Gastrointestinal Surgery, Fourth Affiliated Hospital of China Medical University, Shenyang, 110032, China.
authors.forename: Xiaoxia
authors.initials: X
authors.lastname: Li
authors.affiliation: The Research Center for Medical Genomics, MOH Key Laboratory of Cell Biology and Key Laboratory of Medical Cell Biology, Ministry of Education, China Medical University, Shenyang, 110122, China.
authors.forename: Sen
authors.initials: S
authors.lastname: Li
authors.affiliation: The Research Center for Medical Genomics, MOH Key Laboratory of Cell Biology and Key Laboratory of Medical Cell Biology, Ministry of Education, China Medical University, Shenyang, 110122, China.
authors.forename: Shengqiang
authors.initials: S
authors.lastname: Qu
authors.affiliation: The Research Center for Medical Genomics, MOH Key Laboratory of Cell Biology and Key Laboratory of Medical Cell Biology, Ministry of Education, China Medical University, Shenyang, 110122, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Wang
authors.affiliation: The Research Center for Medical Genomics, MOH Key Laboratory of Cell Biology and Key Laboratory of Medical Cell Biology, Ministry of Education, China Medical University, Shenyang, 110122, China.
authors.forename: Qingzhu
authors.initials: Q
authors.lastname: Tang
authors.affiliation: Department of Developing Pediatrics, Shengjing Hospital, China Medical University, Shenyang, 110004, China.
authors.forename: Hongwei
authors.initials: H
authors.lastname: Ma
authors.affiliation: The Research Center for Medical Genomics, MOH Key Laboratory of Cell Biology and Key Laboratory of Medical Cell Biology, Ministry of Education, China Medical University, Shenyang, 110122, China. luoyang@mail.cmu.edu.cn.
authors.forename: Yang
authors.identifier: http://orcid.org/0000-0002-1522-3712
authors.initials: Y
authors.lastname: Luo
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics*; D000328:Adult; D044466:Asian People / Q000235:genetics*; D005260:Female; D017491:Genes, APC; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: C555337:APC protein, human; D025601:Adenomatous Polyposis Coli Protein
keywords: Adenomatous polyposis coli; Colorectal cancer; Familial adenomatous polyposis; Immunohistochemistry; Mutation analysis