SNP information rs36053993

Research and publications:

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

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

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

  17956577   Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer.

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

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

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

  19732775   Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

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

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

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

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

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

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

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

  21273643   In vitro functional effects of XPC gene rare variants from bladder cancer patients.

  21815886   First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome.

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

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

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

  22532847   Pooled sample-based GWAS: a cost-effective alternative for identifying colorectal and prostate cancer risk variants in the Polish population.

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

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

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

  23035301   MUTYH Polyposis.

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

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

  23625202   Colorectal cancer in a monoallelic MYH mutation carrier.

  23757202   Free the data: one laboratory's approach to knowledge-based classification of genomic variants and preparation for integration of genomic data into EMR.

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

  23946381   Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence.

  24033266   A systematic approach to assessing the clinical significance of genetic variants.

  24082139   Personalized genomic disease risk of volunteers.

  24420788   The MUTYH hotspot mutations p.G396D and p.Y179C do not cause substantial genetic susceptibility to biliary cancer.

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

  25340522   Germline mutations in MAP3K6 are associated with familial gastric cancer.

  25741868   Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

  26845104   Improving performance of multigene panels for genomic analysis of cancer predisposition.

  27471558   Gut Microbiota Imbalance and Base Excision Repair Dynamics in Colon Cancer.

  28591191   Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability.

  28634180   A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors.

  31780696   Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico.

  31818908   Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.

  32072083   Association of functional variants and protein-to-protein physical interactions of human MutY homolog linked with familial adenomatous polyposis and colorectal cancer syndrome.

  33606809   Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis.

  33889545   Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.