Condition: MUTYH-Associate Polyposis


rs1060501335 in MUTYH gene and MUTYH-Associate Polyposis PMID 25820570 2015 Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.

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

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

PMID 23322991 2012 Impaired suppressive activities of human MUTYH variant proteins against oxidative mutagenesis.

PMID 17949294 2007 Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis.

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

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

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

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

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

PMID 18301448 2008 No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.

PMID 28135145 2017 Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.

PMID 29478780 2018 Inherited DNA-Repair Defects in Colorectal Cancer.

PMID 20618354 2010 MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations.

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

PMID 30487145 2018 High-frequency actionable pathogenic exome variants in an average-risk cohort.

PMID 28141798 2017 Oxidative DNA damage induces hypomethylation in a compromised base excision repair colorectal tumourigenesis.

PMID 29330641 2018 Characteristics of MUTYH variants in Japanese colorectal polyposis patients.

PMID 24569162 2014 Genetic instability in lymphoblastoid cell lines expressing biallelic and monoallelic variants in the human MUTYH gene.

PMID 15890374 2005 Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas.

PMID 23507534 2013 Role of MUTYH in human cancer.

PMID 17703316 2007 Germline mutations of the MYH gene in Korean patients with multiple colorectal adenomas.

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

PMID 22865608 2013 MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis.

PMID 23361220 2014 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.

PMID 16616356 2006 Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization.

PMID 16140997 2005 Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP).

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

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

PMID 19527492 2009 Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas.

PMID 27705013 2016 Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients.

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

PMID 18495334 2008 The role of MYH gene in genetic predisposition to colorectal cancer: another piece of the puzzle.

PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

PMID 20725929 2010 Leiden Open Variation Database of the MUTYH gene.

PMID 19806110 2009 Idiopathic gastric acid hypersecretion in a patient with MUTYH-associated polyposis.

PMID 17931073 2007 To evaluate their role in the susceptibility to sporadic colon and rectum cancers, we screened 1024 French sporadic colorectal cancer cases and 1121 French healthy controls for Caucasian MUTYH-associated polyposis mutations, including already known mutations p.Gly382Asp and p.Tyr165Cys, and new mutation p.Val479Phe.

PMID 25368107 2015 Genomic variations integrated database for MUTYH-associated adenomatous polyposis.

PMID 22538434 2012 French experts report on MUTYH-associated polyposis (MAP).

PMID 17161978 2007 MUTYH-associated polyposis--from defect in base excision repair to clinical genetic testing.

PMID 18992148 2008 Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.

PMID 19725997 2007 Base excision repair and the role of MUTYH.

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

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 28533537 2017 Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.

PMID 18422726 2008 Genomic and functional analyses of MUTYH in Japanese patients with adenomatous polyposis.

PMID 24799981 2014 Impaired 8-hydroxyguanine repair activity of MUTYH variant p.Arg109Trp found in a Japanese patient with early-onset colorectal cancer.