welcome to oneFAPvoice
- a positively charged Familial Adenomatous Polyposis community.- join today!
- login
MuTYH-Associated Colorectal Cancer and Adenomatous Polyposis
source: Surgery today
year: 2014
authors: Yamaguchi S, Ogata H, Katsumata D, Nakajima M, Fujii T, Tsutsumi S, Asao T, Sasaki K, Kuwano H, Kato H
summary/abstract:MUTYH-associated polyposis (MAP) was first described in 2002. MUTYH is a component of a base excision repair system that protects the genomic information from oxidative damage. When the MUTYH gene product is impaired by bi-allelic germline mutation, it leads to the mutation of cancer-related genes, such as the APC and/or the KRAS genes, via G to T transversion. MAP is a hereditary colorectal cancer syndrome inherited in an autosomal-recessive fashion. The clinical features of MAP include the presence of 10-100 adenomatous polyps in the colon, and early onset of colorectal cancer. Ethnic and geographical differences in the pattern of the MUTYH gene mutations have been suggested. In Caucasian patients, c.536A>G (Y179C) and c.1187G>A (G396D) mutations are frequently detected. In the Asian population, Y179C and G396D are uncommon, whereas other variants are suggested to be the major causes of MAP. We herein review the literature on MUTYH-associated colorectal cancer and adenomatous polyposis.
organization: Dokkyo Medical UniversityDOI: 10.1007/s00595-013-0592-7
read more full text source
expertly curated content related to this topic
-
Live Chat About the FAP 310 Clinical Trialhttps://www.youtube.com/watch?v=tKHUFgyO...
-
Discovery of a novel gene for hereditary colon cancerThe formation of large numbers of polyps...
-
My F.A.P. Diagnosishttps://www.youtube.com/watch?v=8vHg5saM...
-
Screening and Surveillance of the Early Detection of Colorectal Cancer and Adenomatous PolypsIn the United States, colorectal cancer ...
-
Germline Mutations of the APC Gene in Patients with Familial Adenomatous Polyposis-Associated Thyroid Carcinoma: Res...Papillary thyroid carcinoma (PTC) is one...
-
Risk of Colorectal Cancer For Carriers of Mutations in MutYH, With and Without a Family History of CancerWe studied 2332 individuals with monoall...
-
Familial Adenomatous Polyposis: Clinical Presentation, Detection and SurveillanceColorectal cancer (CRC) is a leading cau...