Novel missense mutation at codon 2774 (C.8321 G>A) p.S2774n of APC gene in a denovo case of familial adenomatous polyposis
Hossein Kashfi, SM
Nazemalhos-Seini Mojarad, E
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Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease caused by germline mutation in Adenomatous Polyposis Coli (APC) gene. FAP accounts less than 1% of all colorectal cancers incidence. Patients generally present hundreds to thousands of adenomas in colon and rectum and develop colorectal cancer by age 35 -40 if left untreated. A milder form of FAP with fewer numbers of polyps (< 100) is Attenuated FAP (AFAP) and in comparison with classical FAP, it usually diagnosed at an older age. Approximately 15%-20% of FAP patients are ''de novo'' cases without any family history of the disease and novel APC mutations account for approximately 25% of FAP cases. In our study, we reported a novel missense mutation at the APC gene in a denovo patient with AFAP like phenotype. © 2015, Academy of Medical Sciences of I.R. Iran. All rights reserved.
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