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

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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… Click to show full abstract

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.

Keywords: germ line; apc gene; familial adenomatous; polyposis; adenomatous polyposis

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2018

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