SNP information rs1799977

Research and publications:

  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

  17267408   Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.

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

  17870204   Polymorphisms in hMLH1 and risk of early-onset lung cancer in a southeast Chinese population.

  18414213   ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

  18523027   Mismatch repair polymorphisms and risk of colon cancer, tumour microsatellite instability and interactions with lifestyle factors.

  18701435   Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.

  18723338   Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients.

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

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

  19203531   Modulation of the efficacy of temozolomide and dacarbazine melanoma treatment by DNA-repair factors in vivo and in vitro.

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

  19665066   A MLH1 polymorphism that increases cancer risk is associated with better outcome in sporadic colorectal cancer.

  19781088   Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study.

  19930554   Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers.

  20056646   Population-based study of the association of variants in mismatch repair genes with prostate cancer risk and outcomes.

  20063070   Detection of allelic imbalance in MLH1 expression by pyrosequencing serves as a tool for the identification of germline defects in Lynch syndrome.

  20149637   Common variants in human CRC genes as low-risk alleles.

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

  20473912   De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one.

  20805886   Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.

  20860725   MLH1 Differential allelic expression in mutation carriers and controls.

  20967208   Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer.

  21093899   Endometrial cancer and genetic variation in PTEN, PIK3CA, AKT1, MLH1, and MSH2 within a population-based case-control study.

  21156845   The host genetic background of DNA repair mechanisms is an independent predictor of survival in diffuse large B-cell lymphoma.

  21700777   Genetic polymorphisms of multiple DNA repair pathways impact age at diagnosis and TP53 mutations in breast cancer.

  22136435   The MLH1 2101C>A (Q701K) variant increases the risk of gastric cancer in Chinese males.

  22174852   Comparing methods for mapping cis acting polymorphisms using allelic expression ratios.

  22594646   Common variants in mismatch repair genes associated with increased risk of sperm DNA damage and male infertility.

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

  22740958   Polymorphisms of mismatch repair gene hMLH1 and hMSH2 and risk of gastric cancer in a Chinese population.

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

  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.

  24086368   An epistatic interaction between the PAX8 and STK17B genes in papillary thyroid cancer susceptibility.

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

  24491308   Systematic review and meta-analysis of candidate gene association studies of lower urinary tract symptoms in men.

  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.

  25491747   Interactions between meat intake and genetic variation in relation to colorectal 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.

  25986311   Association between MutL homolog 1 polymorphisms and the risk of colorectal cancer: a meta-analysis.

  26275295   The hMLH1 -93G>A Polymorphism and Risk of Ovarian Cancer in the Chinese Population.

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

  26900293   Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients.

  27608007   Pharmacogenetics Biomarkers and Their Specific Role in Neoadjuvant Chemoradiotherapy Treatments: An Exploratory Study on Rectal Cancer Patients.

  29190978   Pooling-analysis on hMLH1 polymorphisms and cancer risk: evidence based on 31,484 cancer cases and 45,494 cancer-free controls.

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

  29616133   Mismatch repair single nucleotide polymorphisms and thyroid cancer susceptibility.

  31175773   Allelic polymorphisms of dna repair genes and their influence on the formation of resistance to the development of bronchopulmonary pathology under the action of industrial aerosols.

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

  32957448   Micronuclei Formation upon Radioiodine Therapy for Well-Differentiated Thyroid Cancer: The Influence of DNA Repair Genes Variants.

  34868194   LORSEN: Fast and Efficient eQTL Mapping With Low Rank Penalized Regression.