MUTYH, mutY DNA glycosylase, 4595

N. diseases: 156; N. variants: 174
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE 8, 10 %); (2) MutYH mutated polyposis (MAP), adenomas >50 % and biallelic MutYH mutations (no. 27783336 2017
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE Adenomas and carcinomas from patients with MYH biallelic mutation showed a different pattern of expression: a strong granular cytoplasmic staining was observed without any nuclear expression. 16890597 2006
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE MYH biallelic mutation carriers were up to 60% (5 of 8) among patients showing at least 30 adenomas and a family history with no vertical transmission of polyposis. 15188161 2004
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE MYH, OGG1 and MTH1 are members of base excision repair (BER) families, and MYH germline mutations were recently identified in patients with multiple adenomas or familial adenomatous polyposis (FAP). 15449173 2004
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group LHGDN Absence of MutY homologue mutation in patients with multiple sporadic adenomatous polyps in Korea. 16521226 2006
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE After further requests, her family case history revealed that her brother had had between 10 and 15 adenomas and turned out to carry both MUTYH germ line mutations. 18172263 2008
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE Although the number of adenomas appears to be dependent on the number of mutated MYH alleles present in a patient, little is known on the relation of this number with cancer risk. 17949294 2007
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group LHGDN Among patients with multiple adenomas, biallelic MYH mutations account for approximately 30% of APC mutation negative cases and two thirds of these carry mutations other than the "common" Y165C and G382D variants. 17219385 2007
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. 19793053 2009
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE AXIN2 and MUTYH genes were screened for germline mutations by PCR and direct sequencing in 39 unrelated patients with multiple adenomas or colorectal cancer without evidence of APC mutation nor mismatch repair defect. 16941501 2006
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE Because biallelic MYH mutations occur in patients with both high and low numbers of adenomas, we hypothesized that MYH is involved in the tumorigenesis of microsatellite stable colorectal cancers in patients without vertical transmission of disease and who fulfill the Bethesda guidelines. 16645203 2006
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE Bi-allelic germline mutations in the MUTYH gene give rise to multiple adenomas and an increased incidence of colorectal cancer. 16943222 2006
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE Biallelic germline MUTYH mutations have been proved to greatly predispose to non-familial adenomatous polyposis (FAP) and non-hereditary non-polyposis colorectal cancer (HNPCC) familial recessive forms of colorectal cancer with multiple adenomas. 17931073 2007
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group LHGDN Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations. 12393807 2002
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group LHGDN Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas. 15890374 2005
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group LHGDN Mutations in MBD4 are unlikely to be implicated in HPS; MYH mutations should be studied, especially when adenomas occur in the same patient. 16831587 2006
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE Mutations in the MYH gene should be considered in individuals with multiple adenomas whose family history does not reflect an autosomal dominant pattern of inheritance. 15947872 2005
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 Biomarker group LHGDN None of the 141 normal-population adenoma patients carried biallelic germline MYH variants (95% CI = 0.06-4.1%) and 3 were heterozygotes (2.1%). 14999774 2004
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE One of 75 cancers had bi-allelic germline mutations in MYH and on retrospective analysis of medical records this patient was found to have synchronous multiple small adenomas in addition to carcinoma. 12707038 2003
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE Our objective was to determine the significance of MYH mutations in a series of Canadian patients with multiple adenomas. 17219385 2007
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE Recently, biallelic mutations in the base excision repair gene MYH have been shown to predispose to a multiple adenoma and carcinoma phenotype. 16287072 2006
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE Recently, germline mutations in the base-excision repair gene MYH (1p33-34) have been described in patients with multiple adenomas, pointing to a possible role as disease modifier in FAP. 14735163 2004
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE Recessively inherited mutations in the base excision repair gene MYH have recently been associated with predisposition to colorectal adenomas and cancer in materials selected for occurrence of multiple adenomas. 12937124 2003
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group LHGDN The heterozygous genotype of OGG1 c.1-18G>T was closely associated with multiple adenoma families (P < 0.001), while MYH A359V mutation exhibited a tendency (P = 0.053). 17252231 2007
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group LHGDN The multiple colorectal adenoma phenotype and MYH, a base excision repair gene. 15290654 2004