Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.200 Biomarker disease BEFREE In addition to standard indications for MUTYH testing, our data provide evidence to support consideration of MAP in the differential diagnosis for some individuals with fewer than 10 polyps, depending on other personal and/or family history, as well as for individuals suspected to have Lynch syndrome or FAP. 30604180 2019
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
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
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.200 GeneticVariation disease 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
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.200 AlteredExpression disease BEFREE Variants of MUTYH defective in functional activity lead to MUTYH-associated polyposis (MAP), which progresses to cancer with very high penetrance. 31203172 2019
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
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
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.200 CausalMutation disease CLINVAR Characteristics of MUTYH variants in Japanese colorectal polyposis patients. 29330641 2018
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.200 CausalMutation disease CLINVAR Inherited DNA-Repair Defects in Colorectal Cancer. 29478780 2018
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.200 GeneticVariation disease BEFREE The methods described herein have not only been leveraged to provide insight into the roles of the MutY Fe-S cluster but have also been provided crucial information needed to delineate the impact of inherited variants of the human homolog MUTYH associated with a colorectal cancer syndrome known as MUTYH-associated polyposis or MAP. 29746241 2018
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.200 GeneticVariation disease BEFREE On the basis of the prevalence of pathogenic MUTYH and NTHL1 variants in the normal population, we estimate that the frequency of the novel NTHL1-associated tumour syndrome is five times lower than that of MUTYH-associated polyposis. 29105096 2018
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.200 CausalMutation disease CLINVAR High-frequency actionable pathogenic exome variants in an average-risk cohort. 30487145 2018
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.200 GeneticVariation disease BEFREE MUTYH hotspot variants known for Caucasians, namely p.G396D and p.Y179D, were not among the detected variants.Of five patients, two with biallelic MUTYH variants were diagnosed with MUTYH-associated polyposis, while two others had monoallelic MUTYH variants. 29330641 2018
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.200 GeneticVariation disease BEFREE The analysis of 1120 healthy subjects revealed 15 heterozygous carriers of recurrent MUTYH mutations, thus the expected incidence of MUTYH-associated polyposis in Russia is likely to be 1:23 000. 29406563 2018
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.200 GeneticVariation disease BEFREE Biallelic MUTYH mutations impair this enzymatic function and are associated with colorectal cancer (CRC) in MUTYH-Associated Polyposis (MAP) syndrome. 28551381 2017
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.200 GeneticVariation disease CLINVAR Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort. 28533537 2017
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.200 Biomarker disease BEFREE To determine prevalence, spectrum and genotype-phenotype correlations of MUTYH variants in Italian patients with suspected MAP (MUTYH-associated polyposis), a retrospective analysis was conducted to identify patients who had undergone MUTYH genetic testing from September 2002 to February 2014. 27829682 2017
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.200 AlteredExpression disease BEFREE Germline biallelic inactivation of MUTYH represents a familial cancer syndrome called MUTYH-associated polyposis. 29027306 2017
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.200 GeneticVariation disease BEFREE Finally, we touch on the insight gleaned from studies with MAP-associated MUTYH variants and recent advances in understanding the multifaceted roles of MUTYH in the cell, both in the prevention of mutagenesis and tumorigenesis. 28087410 2017
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.200 CausalMutation disease CLINVAR Oxidative DNA damage induces hypomethylation in a compromised base excision repair colorectal tumourigenesis. 28141798 2017
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.200 GeneticVariation disease BEFREE Here, by analysing a series of colorectal cancers (CRCs) using exome sequencing, we identified a particular spectrum of somatic mutations characterized by an enrichment of C > A transversions in NpCpA or NpCpT contexts in three tumours from a MUTYH-associated polyposis (MAP) patient and in two cases harbouring pathogenic germline MUTYH mutations. 28127763 2017
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.200 CausalMutation disease CLINVAR Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. 27829682 2017
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.200 CausalMutation disease CLINVAR Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. 28135145 2017
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.200 GeneticVariation disease BEFREE MYH-associated polyposis is a recessively inherited syndrome of colorectal cancer predisposition attributed to biallelic germline mutations in the base excision repair gene MYH. 27145315 2016
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.200 Biomarker disease BEFREE APC is associated with the familial adenomatous polyposis (FAP/AFAP) and MUTYH with the MUTYH-associated polyposis (MAP), while POLE and POLD1 mutations cause the polymerase proofreading-associated polyposis (PPAP). 27705013 2016
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.200 CausalMutation disease CLINVAR Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients. 27705013 2016
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.200 GeneticVariation disease CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016