Results 131 to 140 of about 6,242 (173)
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MUTYH-associated polyposis (MAP)
Critical Reviews in Oncology/Hematology, 2011The human mutY homologue (MUTYH) gene is responsible for inheritable polyposis and colorectal cancer. This review discusses the molecular genetic aspects of the MUTYH gene and protein, the clinical impact of mono- and biallelic MUTYH mutations and histological aspects of the MUTYH tumors.
Maartje Nielsen
exaly +5 more sources
Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2013
MUTYH, a human ortholog of MutY, is a post-replicative DNA glycosylase, highly conserved throughout evolution, involved in the correction of mismatches resulting from a faulty replication of the oxidized base 8-hydroxyguanine (8-oxodG). In particular removal of adenine from A:8-oxodG mispairs by MUTYH activity is followed by error-free base excision ...
Alessandra Viel +2 more
exaly +3 more sources
MUTYH, a human ortholog of MutY, is a post-replicative DNA glycosylase, highly conserved throughout evolution, involved in the correction of mismatches resulting from a faulty replication of the oxidized base 8-hydroxyguanine (8-oxodG). In particular removal of adenine from A:8-oxodG mispairs by MUTYH activity is followed by error-free base excision ...
Alessandra Viel +2 more
exaly +3 more sources
Best Practice & Research Clinical Gastroenterology, 2009
MUTYH-associated polyposis (MAP) is an autosomal recessive disorder characterised by adenomatous polyps of the colorectum and a very high risk of colorectal cancer. It appears to be at least as prevalent as autosomal dominant familial adenomatous polyposis (that is caused by truncating mutations in the APC gene) with which it shares important ...
Julian R, Sampson, Natalie, Jones
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MUTYH-associated polyposis (MAP) is an autosomal recessive disorder characterised by adenomatous polyps of the colorectum and a very high risk of colorectal cancer. It appears to be at least as prevalent as autosomal dominant familial adenomatous polyposis (that is caused by truncating mutations in the APC gene) with which it shares important ...
Julian R, Sampson, Natalie, Jones
openaire +2 more sources
Leiden open variation database of the MUTYH gene [PDF]
Human Mutation, 2010 The MUTYH gene encodes a DNA glycosylase involved in base excision repair (BER). Biallelic pathogenic MUTYH variants have been associated with colorectal polyposis and cancer. The pathogenicity of a few variants is beyond doubt, including c.536A4G/p.Tyr179Cys and c.1187G4A/p.Gly396Asp (previously c.494A4G/p.Tyr165Cys and c.1145G4A/p.Gly382Asp).However,
Sylviane Olschwang +2 more
exaly +8 more sources
2016
MUTYH-associated polyposis (MAP) is an autosomal recessive predisposition to colorectal cancer (CRC) and intestinal polyposis, representing less than 1 % of CRC cases. This condition is characterized by the development of between 10 and 100 colorectal polyps and presents diagnostic challenges due to its phenotypic overlap with other hereditary CRC ...
Maureen E. Mork, Eduardo Vilar
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MUTYH-associated polyposis (MAP) is an autosomal recessive predisposition to colorectal cancer (CRC) and intestinal polyposis, representing less than 1 % of CRC cases. This condition is characterized by the development of between 10 and 100 colorectal polyps and presents diagnostic challenges due to its phenotypic overlap with other hereditary CRC ...
Maureen E. Mork, Eduardo Vilar
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MUTYH-Associated Polyposis and Colorectal Cancer
Surgical Oncology Clinics of North America, 2009This article reviews the role of defective base excision repair, and MUTYH specifically, in colorectal cancer etiology and discusses the consequences of MUTYH gene defects, with particular emphasis on clinical relevance to colorectal polyposis, colorectal cancer risk, and appraising the risk of extra-colonic malignancy.
Malcolm G, Dunlop, Susan M, Farrington
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Management of MUTYH‐associated neoplasia in Australia
Internal Medicine Journal, 2008AbstractBackground: Mutations in the MUTYH gene,which codes for a base excision repair protein, have recently been found to cause an autosomal recessive syndrome characterized by multiple colorectal adenomas and increased risk of colorectal cancer. To identify key areas for clinical research, it is necessary to understand the current management of ...
Worthley, D., Suthers, G., Lipton, L.
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The prognostic role of TP53 mutations in MUTYH-associated colorectal cancers (MUTYH-CRCs).
Journal of Clinical Oncologye15724 Background: MUTYH-associated polyposis (MAP) is a hereditary Colorectal Cancer (CRC) syndrome caused by biallelic mutations in the MUTYH gene. The p53 protein is a key regulator of cell cycle arrest, apoptosis, and genomic stability.
David Kaldas +2 more
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Analysis of current testing practices for biallelic
AbstractMUTYH‐associated polyposis (MAP) is an autosomal recessive syndrome caused by biallelic mutations in the base excision repair gene MUTYH. Owing to potential limitations in the MAP testing strategy and testing criteria, it is possible that MAP is being under‐identified both genotypically and phenotypically.
M, Landon +12 more
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MutYH (MYH) and colorectal cancer
Biochemical Society Transactions, 2005MAP (MutYH-associated polyposis) is a recently described colorectal adenoma and carcinoma predisposition syndrome that is associated with biallelic-inherited mutations of the human MutY homologue gene, MutYH. MutYH is often also termed MYH. MAP tumours display a mutational signature of somatic guanine-to-thymine transversion mutations in the ...
J R, Sampson +3 more
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