SNP information rs1800734

Research and publications:

  17230510   Evidence for heritable predisposition to epigenetic silencing of MLH1.

  17301300   Inheritance of a cancer-associated MLH1 germ-line epimutation.

  17959715   Polymorphic MLH1 and risk of cancer after methylating chemotherapy for Hodgkin lymphoma.

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

  18712731   MLH1 -93G>A promoter polymorphism and risk of mismatch repair deficient colorectal cancer.

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

  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.

  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.

  21036793   Molecular pathological epidemiology of colorectal neoplasia: an emerging transdisciplinary and interdisciplinary field

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

  21093954   Polymorphisms of MLH1 and MSH2 genes and the risk of lung cancer among never smokers.

  21565826   MLH1-93G > A is a risk factor for MSI colorectal cancer.

  21738611   B vitamins, methionine and alcohol intake and risk of colon cancer in relation to BRAF mutation and CpG island methylator phenotype (CIMP).

  21980013   Role of genetic susceptibility in development of treatment-related adverse outcomes in cancer survivors.

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

  22294770   Investigation of the effects of DNA repair gene polymorphisms on the risk of colorectal cancer.

  22371642   Germline mutation analysis of MLH1 and MSH2 in Malaysian Lynch syndrome patients.

  22623965   The cumulative effects of polymorphisms in the DNA mismatch repair genes and tobacco smoking in oesophageal cancer risk.

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

  22927776   Interaction between polymorphisms of DNA repair genes significantly modulated bladder cancer risk.

  23240038   MLH1 region polymorphisms show a significant association with CpG island shore methylation in a large cohort of healthy individuals.

  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.

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

  24205329   Detection of regulatory SNPs in human genome using ChIP-seq ENCODE data.

  24325908   Analysis of DNA repair gene polymorphisms in glioblastoma.

  24515656   Lung cancer risk and genetic variants in East Asians: a meta-analysis.

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

  24944790   Screening for 392 polymorphisms in 141 pharmacogenes.

  25047469   The hMLH1 -93G>A promoter polymorphism is associates with outcomes in oral squamous cell carcinoma patients.

  25115745   Effect of MLH1 -93G>A on gene expression in patients with colorectal cancer.

  25252909   Mismatch repair gene polymorphisms and association with lung cancer development.

  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.

  26724419   Polymorphisms in mismatch repair genes are associated with risk and microsatellite instability of gastric cancer, and interact with life exposures.

  26911399   Functional annotation of colorectal cancer susceptibility loci identifies MLH1 rs1800734 associated with MSI patients.

  26987333   Polymorphisms of Selected DNA Repair Genes and Lung Cancer in Chromium Exposure.

  28195176   The non-coding variant rs1800734 enhances DCLK3 expression through long-range interaction and promotes colorectal cancer progression.

  28293327   The dynamic DNA methylation landscape of the mutL homolog 1 shore is altered by MLH1-93G>A polymorphism in normal tissues and colorectal cancer.

  28304185   Modulation of transcription factor binding and epigenetic regulation of the MLH1 CpG island and shore by polymorphism rs1800734 in colorectal cancer.

  28791697   The association of genetic variations in DNA repair pathways with severe toxicities in NSCLC patients undergoing platinum-based chemotherapy.

  28827732   Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies.

  29108386   Single nucleotide polymorphisms in MLH1 predict poor prognosis of hepatocellular carcinoma in a Chinese population.

  29156846   S100A14 rs11548103 G>A polymorphism is associated with a decreased risk of esophageal cancer in a Chinese population.

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

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

  29304767   MLH1-93 G/a polymorphism is associated with MLH1 promoter methylation and protein loss in dysplastic sessile serrated adenomas with BRAF(V600E) mutation.

  29399184   Influence of hypoxia-related genetic polymorphisms on the prognosis of patients with metastatic gastric cancer treated with EOF.

  30038702   Polymorphisms in DNA mismatch repair pathway genes predict toxicity and response to cisplatin chemoradiation in head and neck squamous cell carcinoma patients.

  30519050   Association of MLH1 single nucleotide polymorphisms with clinical outcomes of first-line irinotecan-based chemotherapy in colorectal cancer.

  30952131   Whole exome sequencing-based analysis to identify DNA damage repair deficiency as a major contributor to gliomagenesis in adult diffuse gliomas.

  30989434   A polymorphism within the mismatch repair gene predicts prognosis and adjuvant chemotherapy benefit in gastric cancer.

  31035658   Polymorphisms of Mismatch Repair Pathway Genes Predict Clinical Outcomes in Oral Squamous Cell Carcinoma Patients Receiving Adjuvant Concurrent Chemoradiotherapy.

  31209889   DNA repair and cancer in colon and rectum: Novel players in genetic susceptibility.

  31273068   Genetic polymorphisms in hMSH2 and hMLH1 genes are associated with prognosis in epithelial ovarian cancer patients.

  31342644   The association of four SNPs in DNA mismatch repair genes with idiopathic male infertility in northwest China.

  31530880   The polymorphic variant rs1800734 influences methylation acquisition and allele-specific TFAP4 binding in the MLH1 promoter leading to differential mRNA expression.

  31953835   Genetic Polymorphism of Mismatch Repair Genes and Susceptibility to Prostate Cancer.

  32641106   The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability.

  32756484   DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.

  33082400   MLH1 single-nucleotide variant in circulating tumor DNA predicts overall survival of patients with hepatocellular carcinoma.

  33794988   Correction to: The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability.

  34540891   Umbrella Review on Associations Between Single Nucleotide Polymorphisms and Lung Cancer Risk.