welcome to oneFAPvoice
- a positively charged Familial Adenomatous Polyposis community.- join today!
- login
MUTYH Associated Polyposis (MAP)
source: Current genomics
year: 2008
authors: M. L. M. Poulsen, M. L. Bisgaard
summary/abstract:MUTYH Associated Polyposis (MAP), a Polyposis predisposition caused by biallelic mutations in the Base Excision Repair (BER) gene MUTYH, confers a marked risk of colorectal cancer (CRC). The MAP phenotype is difficult to distinguish from other hereditary CRC syndromes. Especially from Familial Adenomatous Polyposis (FAP) and to a lesser extend Lynch Syndrome, which are caused by germline mutations in the APC and Mismatch Repair (MMR) genes, respectively.Here we review research findings regarding MUTYH interactions, genotypic and phenotypic characteristics of MAP, as well as surveillance and treatment of the disease. The applied papers, published between 1/1 2002- 1/2 2008, were found through PubMed.The exact role of MUTYH in CRC tumorgenesis is still uncertain, although MAP tumors show distinct molecular features, including somatic G:C>T:A transversions in the APC gene. Furthermore, cooperation between the BER and the MMR systems exists, as MUTYH interacts with MMR gene-products. Possibly, monoallelic defects in both pathways are of significance to CRC development.Specific MUTYH variants are found to be characteristic in distinct ethnic populations, which could facilitate future genetic screening. Knowledge concerning functional consequences of many MUTYH germline mutations remains sparse. Most thoroughly investigated are the two most common MUTYH variants, Y179C and G396D, both generating dysfunctional gene products.PHENOTYPIC FEATURES OF MAP INCLUDE: development of 10-100 colorectal adenomas, debuting at 46-47 years, often CRC at time of clinical diagnosis, and in some, development of extracolonic manifestations.
organization: University of CopenhagenDOI: 10.2174/138920208785699562
read more full text source
expertly curated content related to this topic
-
Gross Appearance of a Villous Adenomahttp://library.med.utah.edu/WebPath/jpeg...
-
Small Bowel Endoscopic Evaluation in Familial Adenomatous Polyposis (FAP)Background and study aim The relative ri...
-
Life’s a Polyphttps://www.youtube.com/channel/UCqXW6N2...
-
Increased MuTYH Mutation Frequency Among Dutch Families With Breast cancer and Colorectal CancerHomozygous and compound heterozygous MUT...
-
How to Defy a Hereditary Predisposition and Prevent Colon Cancerhttps://www.youtube.com/watch?v=IynYbT2i...
-
Ask the Genetic CounselorThere is colorectal cancer in my family ...
-
MutYH-Associated Polyposis (MAP): Molecular Genetic Aspects of the MUTYH Gene and Protein and Clinical Impacts of Mu...The human mutY homologue (MUTYH) gene is...