Article
Novel Missense Mutation at Codon 2774 (C.8321 G>A) p.S2774N of APC Gene in a Denovo Case of Familial Adenomatous Polyposis.
Archives of Iranian medicine - 1 Jul 2015
Kashfi Seyed Mohammad Hossein, Golmohammadi Mina, Behboudi Farahbakhsh Faegheh, Nazemalhosseini Mojarad Ehsan, Azimzadeh Pedram, Norouzinia Mohsen, Montazer Haghighi Mahdi, Akbari Zahra, Damavand Behzad, Molaei Mahsa, Anaraki Fakhrialsadat, Asadzadeh Aghdaei Hamid, Zali Mohammad Reza
Abstract excerpt
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)...
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