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
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
