MUTYH, mutY DNA glycosylase, 4595

N. diseases: 156; N. variants: 174
Disease: Polyp of large intestine ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.200 GeneticVariation disease BEFREE The human DNA repair gene MUTYH, whose mutational loss causes a colorectal polyposis and cancer predisposition, contains three alternative first exons. 30653782 2019
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.200 GeneticVariation disease BEFREE Individuals with ≥10 colorectal polyps have traditionally been referred for genetic diagnostic testing to identify APC and MUTYH mutations which cause FAP and MAP respectively. 30904095 2019
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.200 GeneticVariation disease BEFREE Since few studies have investigated the genotype-phenotype association in Japanese patients with MUTYH variants, the aim of this study was to clarify the clinicopathological findings in Japanese patients with MUTYH gene variants who were detected by screening causative genes associated with hereditary colorectal polyposis. 29330641 2018
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.200 GeneticVariation disease BEFREE The importance of this mutation suppression activity in tumor suppressor genes is underscored by the association of inherited variants of MUTYH with colorectal polyposis in a hereditary colorectal cancer syndrome known as MUTYH-associated polyposis, or MAP. 30208271 2018
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.200 GeneticVariation disease BEFREE Eight sporadic cases with >20 adenomatous polyps by 35 years of age or >50 adenomatous polyps by 55 years of age, and no causative germline variants in APC and/or MutYH, were enrolled from a cohort of 56 subjects with adenomatous colorectal polyposis. 29367705 2018
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.200 GeneticVariation disease BEFREE Germline mutations in the MUTYH gene are linked to colorectal polyposis and a high risk of colorectal cancer, a syndrome referred to as MUTYH-associated polyposis (MAP). 26377631 2015
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.200 GeneticVariation disease BEFREE Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition. 26511139 2015
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.200 GeneticVariation disease BEFREE In addition, we studied a series of 693 non-CRC patients with 1-13 adenomatous colorectal polyps for the MUTYH hotspot mutations Y179C, G396D and P405L. 23007840 2013
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.200 GeneticVariation disease BEFREE Germline mutations in MUTYH are associated with a recessively heritable colorectal polyposis, now referred to as MUTYH-associated polyposis (MAP). 23507534 2013
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.200 GeneticVariation disease BEFREE Mutational loss of the human DNA repair gene MUTYH in the germline predisposes for colorectal polyposis and cancer, a recessively heritable disease called MUTYH-associated polyposis. 22473953 2012
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.200 GeneticVariation disease BEFREE p.R154H, p.M255V, p.L360P, and p.P377L MUTYH variants, which were previously found in patients with colorectal polyposis and cancer, were selected for use in this study. 23322991 2012
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.200 GeneticVariation disease BEFREE MUTYH mutations predispose to recessively inherited colorectal polyposis and cancer. 22297469 2012
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.200 GeneticVariation disease BEFREE Biallelic pathogenic MUTYH variants have been associated with colorectal polyposis and cancer. 20725929 2010
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.200 AlteredExpression disease BEFREE Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. 20848659 2010
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.200 GeneticVariation disease BEFREE Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis. 19279422 2009
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.200 Biomarker disease BEFREE This 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. 19793568 2009
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.200 GeneticVariation disease BEFREE APC, MYH, and the correlation genotype-phenotype in colorectal polyposis. 19169759 2009
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.200 GeneticVariation disease BEFREE The present study investigated germline mutations of the MYH gene among patients with 10 to 99 adenomatous colorectal polyps and familial adenomatous polyposis (FAP) without adenomatous polyposis coli (APC) germline mutations in Korea. 17703316 2007
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.200 GeneticVariation disease BEFREE Recently, biallelic germ line mutations in the MYH gene were found to be responsible for MYH-associated polyposis (MAP), an autosomal recessive predisposition to multiple colorectal polyps, often indistinguishable from the dominant familial adenomatous polyposis (FAP) syndrome caused by inherited APC mutations. 16510566 2006
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.200 GeneticVariation disease BEFREE Biallelic mutation of MYH has been found to responsible of colorectal polyposis and cancer in an autosomal recessive pattern of inheritance. 17122612 2006
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.200 GeneticVariation disease BEFREE Inherited biallelic mutations in the human MUTYH gene are responsible for the recessive syndrome--adenomatous colorectal polyposis (MUTYH associated polyposis, MAP)--which significantly increases the risk of colorectal cancer (CRC). 15987719 2005
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.200 GeneticVariation disease BEFREE However, it was recently discovered that biallelic mutations in the BER DNA glycosylase MYH lead to an autosomal recessive syndrome of adenomatous colorectal polyposis and very high colorectal cancer risk. 12915454 2003
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.200 Biomarker disease HPO