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

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 qu

SUBMITTER: Pouya F 

PROVIDER: S-EPMC6305644 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature