Open Access

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
  • View Affiliations

  • 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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August-2018
Volume 18 Issue 2

Print ISSN: 1791-2997
Online ISSN:1791-3004

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Spandidos Publications style
Pang M, Liu Y, Hou X, Yang J, He X, Hou N, Liu P, Liang L, Fu J, Wang K, Wang K, et al: A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review. Mol Med Rep 18: 1423-1432, 2018
APA
Pang, M., Liu, Y., Hou, X., Yang, J., He, X., Hou, N. ... Gong, B. (2018). A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review. Molecular Medicine Reports, 18, 1423-1432. https://doi.org/10.3892/mmr.2018.9130
MLA
Pang, M., Liu, Y., Hou, X., Yang, J., He, X., Hou, N., Liu, P., Liang, L., Fu, J., Wang, K., Ye, Z., Gong, B."A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review". Molecular Medicine Reports 18.2 (2018): 1423-1432.
Chicago
Pang, M., Liu, Y., Hou, X., Yang, J., He, X., Hou, N., Liu, P., Liang, L., Fu, J., Wang, K., Ye, Z., Gong, B."A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review". Molecular Medicine Reports 18, no. 2 (2018): 1423-1432. https://doi.org/10.3892/mmr.2018.9130