A novel large germ line deletion in adenomatous polyposis coli (APC) gene associated with familial adenomatous polyposis

Pouya, F. and Mojtabanezhad Shariatpanahi, A. and Ghaffarzadegan, K. and Tabatabaee Yazdi, S. A. and Golmohammadzadeh, H. and Soltani, G. and Aminian Toosi, K. and Kerachian, M. A. (2018) A novel large germ line deletion in adenomatous polyposis coli (APC) gene associated with familial adenomatous polyposis. Molecular Genetics and Genomic Medicine, 6 (6). pp. 1031-1040.

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Abstract

Background: Familial adenomatous polyposis (FAP) is a familial colorectal cancer predisposition syndrome characterized by the development of numerous colorectal polyps, which is inherited in an autosomal dominant manner. FAP is caused by germ line mutations in adenomatous polyposis coli (APC) gene. Here, we described the identification of a causative APC gene deletion associated with FAP in an Iranian family. Methods: Diagnosis of FAP was based on clinical findings, family history, and medical records (colonoscopy and histopathological data) after the patients were referred to Reza Radiotherapy and Oncology Center, Iran, for colonoscopy. Blood samples were collected, and genomic DNA was extracted. APC mutation screening was conducted by target next-generation sequencing and quantitative real-time PCR. Results: A novel heterozygous large deletion mutation, c.(135+1136–1)(*2113+1*2114–1) spanning exon 3 to 16 EX3_16 DEL of APC gene (GenBank Accession# MG712911), was detected in a proband and all her affected relatives in five generations, which was absent in unaffected family members and normal controls. Conclusions: This novel deletion is the first report, describing the largest deletion of APC gene. Our novel finding contributes to a more comprehensive database of germ line mutations of APC gene that could be used in medical practice for the molecular diagnosis, risk assessment susceptibility of the disease for the FAP patients. © 2018 The Authors. Molecular Genetics & Genomic Medicine Published by Wiley Periodicals, Inc.

Item Type: Article
Additional Information: Export Date: 16 February 2020 Correspondence Address: Kerachian, M.A.; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical SciencesIran; email: amin.kerachian@mail.mcgill.ca
Uncontrolled Keywords: APC gene colorectal cancer Familial adenomatous polyposis large exon deletion targeted next-generation sequencing APC protein APC protein, human adolescent adult aged colon polyposis female gene deletion genetics germline mutation human male middle aged pathology pedigree Adenomatous Polyposis Coli Adenomatous Polyposis Coli Protein Germ-Line Mutation Humans
Subjects: WI Digestive System
QZ pathology-neoplasms-Genetics
Divisions: Mashhad University of Medical Sciences
Depositing User: lib2 lib2 lib2
Date Deposited: 07 May 2020 06:52
Last Modified: 07 May 2020 06:52
URI: http://eprints.mums.ac.ir/id/eprint/17469

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