A novel large germ line deletion in adenomatous polyposis coli (APC) gene associated with familial adenomatous polyposis. Issue 6 (26th September 2018)

• Record Type: Journal Article
• Authors: Pouya, Farzaneh; Mojtabanezhad Shariatpanahi, Afsaneh; Ghaffarzadegan, Kamran; Tabatabaee Yazdi, Seyed Abbas; Golmohammadzadeh, Hamed; Soltani, Ghodratollah; Aminian Toosi, Kian; Kerachian, Mohammad Amin
• Is Part Of: Molecular genetics & genomic medicine. Volume 6:Issue 6(2018)
• Page Start: 1031
• Page End: 1040
• Publication Date: 2018-09-26
• Subjects: APC gene -- colorectal cancer -- Familial adenomatous polyposis -- large exon deletion -- targeted next‐generation sequencing; Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.479
• Languages: English
• ISSNs: 2324-9269

Abstract

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+1_136–1)_(*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. Abstract : A novel heterozygous large germ line deletion [EX3_16 DEL] of APC gene (GenBank Accession# MG712911) was detected in a five‐generation Iranian pedigree with 56 members and 8 affected individuals.