rs34612342, MUTYH

N. diseases: 32
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation BEFREE Given that these tumor features are associated with the response to immune checkpoint inhibitors, we administered nivolumab to a CRC patient who carried two inactive MUTYH alleles (p.Y179C and p.G396D) and previously experienced failure of chemotherapy. 31377904 2019
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.800 GeneticVariation BEFREE Biallelic mutations in the MUTYH gene predispose individuals to MUTYH-associated polyposis (MAP), and the most commonly observed mutation in some MAP populations is Y165C. 30698731 2019
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. 27829682 2017
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation BEFREE MUTYH p.Y179C mutation was associated with an increased risk of CRC among Egyptian patients rather than MUTYH p.G396D mutation. 27631816 2017
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.800 CausalMutation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570 2015
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.800 GeneticVariation BEFREE MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. 23361220 2014
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.800 CausalMutation CLINVAR In MAP patients of European origin, the combined allele frequency of the mutations p.Tyr179Cys and p.Gly396Asp ranges between 50 and 82%, while these mutations have not been identified in Far Eastern Asian populations, supporting the hypothesis that a founder effect has occurred at some point in European history. 23361220 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation BEFREE Biallelic p.(Tyr179Cys) MUTYH germline mutations were found in one patient (frequency 1.18%) with CRC, urothelial carcinoma and a sebaceous gland carcinoma. 24518836 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 CausalMutation CLINVAR MUTYH-associated colorectal cancer and adenomatous polyposis. 23605219 2014
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. 23361220 2014
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.800 GeneticVariation BEFREE In the Asian population, Y179C and G396D are uncommon, whereas other variants are suggested to be the major causes of MAP. 23605219 2014
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. 24444654 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation BEFREE Homozygote carriers of G396D had nonsignificantly elevated risk of CRC (OR = 11.0, 95% CI: 0.91-213.9, p = 0.06), and combined bi-allelic carriers of G396D and Y179C had increased risk, OR = 17.4, 95% CI = (1.9-316.7, p = 0.009). 22371070 2012
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.800 GeneticVariation BEFREE Three individuals were biallelic MUTYH variant carriers (p.Y179C/p.G382D: typical MAP; p.Y179C/p.Q338H: atypical MAP with late onset and lower polyp burden; p.G382D/p.Q338H: inflammatory bowel disease), and four subjects were monoallelic mutation carriers. 22469480 2012
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.800 GeneticVariation BEFREE Cell lines that stably express the MUTYH-associated polyposis variants G382D and Y165C have significantly lower OG:A repair versus wild-type MEFs and MEFs expressing human wild-type MUTYH. 22926731 2012
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells. 22926731 2012
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR The first mutations in the MYH gene reported in Moroccan colon cancer patients. 22266422 2012
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 CausalMutation CLINVAR Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. 22703879 2012
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer. 21171015 2011
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.800 GeneticVariation BEFREE The present study was carried out among the Moroccan population, using molecular epidemiology methods, to estimate the prevalence of homozygote or compound heterozygote genotype conferring MAP due to three mutations reported as recurrent in MAP: c.494A>G (Y165C), c.1145G>A (G382D) and c.1186_1187insGG (p.Glu396fsX42). 20939750 2011
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.800 GeneticVariation BEFREE Two common mutations, p.Y179C and p.G396D, are present in approximately 70-80% of MAP in European families with identified MUTYH germline mutations. 21424714 2011
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation BEFREE Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in Southern Brazil. 21424714 2011
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis. 20418187 2010
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay. 19953527 2010
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.800 GeneticVariation BEFREE Fourteen years of colonoscopic surveillance of an MAP patient (compound heterozygous p.Y165C/p.G382D) showed that adenoma development was slow after initial diagnosis of a single colorectal carcinoma at the age of 44, but then the annual number of new adenomas increased substantially in the patient's early fifties. 19672709 2010