Title of article
Novel Missense Mutation at Codon 2774 (C.8321 G>A) p.S2774N of APC Gene in a Denovo Case of Familial Adenomatous Polyposis
Author/Authors
Kashfi, Mohammad Hossein Basic and Molecular Epidemiology of Gastrointestinal Disorders Research Center - Research Institute for Gastroenterology and Liver Diseases - Shahid Beheshti University of Medical Sciences , Golmohammadi, Mina Basic and Molecular Epidemiology of Gastrointestinal Disorders Research Center - Research Institute for Gastroenterology and Liver Diseases - Shahid Beheshti University of Medical Sciences , Behboudi Farahbakhsh, Faegheh Basic and Molecular Epidemiology of Gastrointestinal Disorders Research Center - Research Institute for Gastroenterology and Liver Diseases - Shahid Beheshti University of Medical Sciences , Nazemalhosseini Mojarad, Ehsan Gastroenterology and Liver Diseases Research center - Research Institute for Gastroenterology and Liver Diseases - Shahid Beheshti University of Medical Sciences , Azimzadeh, Pedram Gastroenterology and Liver Diseases Research center - Research Institute for Gastroenterology and Liver Diseases - Shahid Beheshti University of Medical Sciences , Norouzinia, Mohsen Gastroenterology and Liver Diseases Research center - Research Institute for Gastroenterology and Liver Diseases - Shahid Beheshti University of Medical Sciences , Montazer Haghighi, Mahdi Gastroenterology and Liver Diseases Research center - Research Institute for Gastroenterology and Liver Diseases - Shahid Beheshti University of Medical Sciences , Akbari, Zahra Basic and Molecular Epidemiology of Gastrointestinal Disorders Research Center - Research Institute for Gastroenterology and Liver Diseases - Shahid Beheshti University of Medical Sciences , Damavand, Behzad Basic and Molecular Epidemiology of Gastrointestinal Disorders Research Center - Research Institute for Gastroenterology and Liver Diseases - Shahid Beheshti University of Medical Sciences , Molaei, Mahsa Gastroenterology and Liver Diseases Research center - Research Institute for Gastroenterology and Liver Diseases - Shahid Beheshti University of Medical Sciences , Anaraki, Fakhrialsadat Department of Surgery - Taleghani Hospital - Shahid Beheshti University of Medical Sciences , Asadzadeh Aghdaei, Hamid Gastroenterology and Liver Diseases Research center - Research Institute for Gastroenterology and Liver Diseases - Shahid Beheshti University of Medical Sciences , Zali, Mohammad Reza Gastroenterology and Liver Diseases Research center - Research Institute for Gastroenterology and Liver Diseases - Shahid Beheshti University of Medical Sciences
Pages
4
From page
446
To page
449
Abstract
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.
Keywords
new mutation , denovo , APC , AFAP
Journal title
Astroparticle Physics
Serial Year
2015
Record number
2423501
Link To Document