A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review

Pang,Minghui; Liu,Yijun; Hou,Xiaolin; Yang,Jialiang; He,Xuelai; Hou,Nengyi; Liu,Peixi; Liang,Luo; Fu,Junwen; Wang,Kang; Ye,Zimeng; Gong,Bo

doi:10.3892/mmr.2018.9130

A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review

Authors:
- Minghui Pang
- Yijun Liu
- Xiaolin Hou
- Jialiang Yang
- Xuelai He
- Nengyi Hou
- Peixi Liu
- Luo Liang
- Junwen Fu
- Kang Wang
- Zimeng Ye
- Bo Gong
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Affiliations: Department of Gastrointestinal Surgery, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Department of Clinical Laboratory Medicine, Sun Yat‑Sen University Cancer Center, Guangzhou, Guangdong 510000, P.R. China, Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China, Department of Gastroenterology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China
Published online on: June 5, 2018 https://doi.org/10.3892/mmr.2018.9130
Pages: 1423-1432
Copyright: © Pang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Familial adenomatous polyposis (FAP), an autosomal dominant disease, is a colon cancer predisposition syndrome that manifests as a large number of adenomatous polyps. Mutations in the Adenomatous polyposis coli (APC) gene are responsible for the majority of cases of FAP. The purpose of the present study was to report the clinical features of a Chinese family with FAP and screen for novel mutations using the targeted next‑generation sequencing technology. Among the 29 family members, 12 were diagnosed of FAP. Based on an established filtering strategy and data analyses, along with confirmation by Sanger sequencing and co‑segregation, a novel frameshift mutation c.1317delA (p.Ala440LeufsTer14) in exon 10 of the APC gene was identified. To the best of our knowledge, this mutation has not been reported prior to the present study. In addition, it was correlated with extra‑colonic phenotypes featuring duodenal polyposis and sebaceous cysts in this family. This novel frameshift mutation causing FAP not only expands the germline mutation spectrum of the APC gene in the Chinese population, but it also increases the understanding of the phenotypic and genotypic correlations of FAP, and may potentially lead to improved genetic counseling and specific treatment for families with FAP in the future.

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