Variant: rs36053993 

    present in Gene: MUTYH
    present in Chromosome: 1
    Position on Chromosome: 45331556
    Alleles of this Variant: C/T

rs36053993 in MUTYH gene and Colorectal Adenomatous Polyposis, Autosomal Recessive PMID 22158503 2012 MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review.

PMID 17489848 2007 Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.

PMID 24082139 2013 Personalized genomic disease risk of volunteers.

PMID 22703879 2012 Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

PMID 22926731 2012 Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells.

PMID 18091433 2007 Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis.

PMID 23625202 2013 Colorectal cancer in a monoallelic MYH mutation carrier.

PMID 15931596 2005 Germline susceptibility to colorectal cancer due to base-excision repair gene defects.

PMID 26694661 2016 Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population.

PMID 21952991 2012 MutYH mutation carriers have increased breast cancer risk.

PMID 16287072 2006 Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients.

PMID 22744763 2012 High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis.

PMID 23108399 2013 Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability.

PMID 25820570 2015 Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.

PMID 18515411 2008 Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3.

PMID 23805267 2013 Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome.

PMID 21178863 2010 Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis.

PMID 22473953 2012 MUTYH gene expression and alternative splicing in controls and polyposis patients.

PMID 19953527 2010 MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay.

PMID 16557584 2006 MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.

PMID 24444654 2014 Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer.

PMID 21171015 2011 Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer.

PMID 16134147 2005 Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.

PMID 16941501 2006 Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis.

PMID 23361220 2014 MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.

PMID 24728327 2014 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

PMID 11818965 2002 Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.

PMID 15987719 2005 Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair.

PMID 15366000 2004 Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas.

PMID 15635083 2005 The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients.

PMID 16492921 2006 Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study.

PMID 12606733 2003 Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.

PMID 18534194 2008 Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

PMID 20848659 2010 Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.

PMID 20418187 2010 Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis.

PMID 19732775 2009 Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

PMID 21063410 2010 A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants.

PMID 19032956 2009 Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.

PMID 19394335 2009 Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.

PMID 19836313 2009 Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.

PMID 19998059 2010 Biallelic MYH germline mutations as cause of Muir-Torre syndrome.

PMID 12853198 2003 Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.

PMID 19793053 2009 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.

rs36053993 in MUTYH gene and Colorectal Carcinoma PMID 11818965 2002 Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.

PMID 19732775 2009 Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

PMID 19836313 2009 Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.

PMID 19032956 2009 The mean ages of CRC diagnosis in patients were 58 years (homozygous G396D) and 52 years (compound heterozygous G396D/Y179C) versus 46 years (homozygous Y179C; P = .001, linear regression).

PMID 19394335 2009 Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.

rs36053993 in MUTYH gene and MUTYH-Associate Polyposis PMID 19836313 2009 Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.

PMID 25820570 2015 Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.

PMID 24953332 2014 Prevalence of germline MUTYH mutations among Lynch-like syndrome patients.

PMID 24278394 2013 Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.

PMID 27829682 2017 MAP patients carrying the p.Glu480del variant presented with a younger age at polyp diagnosis as compared to patients carrying p.Gly396Asp and p.Tyr179Cys variants.

PMID 22703879 2012 Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

PMID 20848659 2010 Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.

rs36053993 in MUTYH gene and Neoplastic Syndromes, Hereditary PMID 24082139 2013 Personalized genomic disease risk of volunteers.

PMID 22744763 2012 High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis.

PMID 22926731 2012 Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells.

PMID 22473953 2012 MUTYH gene expression and alternative splicing in controls and polyposis patients.

PMID 23108399 2013 Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability.

PMID 21952991 2012 MutYH mutation carriers have increased breast cancer risk.

PMID 23561487 2013 Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients.

PMID 23361220 2014 MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 21063410 2010 A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants.

PMID 22297469 2012 MUTYH gene variants and breast cancer in a Dutch case–control study.

PMID 22158503 2012 MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review.

PMID 19032956 2009 Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.

rs36053993 in MUTYH gene and Small intestine carcinoid PMID 28634180 2017 A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors.

rs36053993 in MUTYH gene and Stomach Neoplasms PMID 19732775 2009 Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

PMID 18534194 2008 Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

PMID 20848659 2010 Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.

PMID 23108399 2013 Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability.

PMID 21178863 2010 Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis.

PMID 19032956 2009 Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.

PMID 19953527 2010 MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay.

PMID 11818965 2002 Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.

PMID 22744763 2012 High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis.

PMID 19998059 2010 Biallelic MYH germline mutations as cause of Muir-Torre syndrome.

PMID 22703879 2012 Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

PMID 21952991 2012 MutYH mutation carriers have increased breast cancer risk.

PMID 20418187 2010 Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis.

PMID 22473953 2012 MUTYH gene expression and alternative splicing in controls and polyposis patients.

PMID 19836313 2009 Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.

PMID 22926731 2012 Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells.

PMID 21063410 2010 A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants.

PMID 23361220 2014 MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.

PMID 24082139 2013 Personalized genomic disease risk of volunteers.

PMID 24728327 2014 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

PMID 23625202 2013 Colorectal cancer in a monoallelic MYH mutation carrier.

PMID 23805267 2013 Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome.

PMID 22158503 2012 MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review.