SNP information rs4987188

Research and publications:

  11920   Isolation and partial characterization of an histidine-rich polypeptide from parotid saliva of the monkey, Macaca nemestrina.

  7704024   Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability.

  10023327   MSH2 codon 322 Gly to Asp seems not to confer an increased risk for colorectal cancer susceptibility.

  10469597   Mutator phenotypes of common polymorphisms and missense mutations in MSH2.

  10874307   Evaluation of enzymatic mutation detectiontrade mark in hereditary nonpolyposis colorectal cancer.

  12624141   Cancer risk in 348 French MSH2 or MLH1 gene carriers.

  17119116   Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study

  17374836   MLH1 -93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer.

  17720936   Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.

  18033691   Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.

  18383312   Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).

  18470917   Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification.

  18830263   Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma

  18951465   Very small embryonic-like stem cells are present in adult murine organs: ImageStream-based morphological analysis and distribution studies.

  19029193   Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk.

  19389263   Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.

  20150366   DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma.

  21681552   Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.

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

  22949387   Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

  22977643   Association between the hMSH2 IVS12-6 T>C polymorphism and cancer risk: A meta-analysis.

  23565320   DNA repair genotype and lung cancer risk in the beta-carotene and retinol efficacy trial.

  23720673   Molecular epidemiology of DNA repair gene polymorphisms and head and neck cancer.

  24292105   Epidemiological analysis of hereditary endometrial cancer in a large study population.

  24689082   A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.

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

  25134804   Gly322Asp and Asn127Ser single nucleotide polymorphisms (SNPs) of hMSH2 mismatch repair gene and the risk of triple-negative breast cancer in Polish women.

  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.

  26811195   Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families.

  29181059   Polymorphism of MSH2 Gly322Asp and MLH1 -93G>A in non-familial colon cancer - a case-controlled study.

  29209986   Data on Single Nucleotide Polymorphism of DNA Repair Genes and Breast Cancer Risk from Poland.

  29458332   Identification of genetic variants for clinical management of familial colorectal tumors.

  30728902   Polymorphism of DNA repair genes in breast cancer.

  32039725   Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.

  32749112   Association of Polymorphisms of Mismatch Repair Genes hMLHI and hMSH2 with Breast Cancer Susceptibility: A Meta-Analysis.

  35691022   The interplay between XPG-Asp1104His polymorphism and reproductive risk factors elevates risk of breast cancer in Tanzanian women: A multiple interaction analysis.