| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.090 | GeneticVariation | BEFREE | Here we use the presence of a colorectal cancer (CRC) risk variant (rs1800734) within the MLH1 promoter to investigate the poorly understood mechanisms of MLH1 promoter methylation and loss of expression. | 31530880 | 2019 |
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|
0.090 | GeneticVariation | BEFREE | To explore these distinct patterns, MLH1 CpG island and shore methylation was assessed in CRC cell lines stratified by rs1800734 genotype. | 28304185 | 2017 |
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|
0.090 | GeneticVariation | BEFREE | A single nucleotide polymorphism (SNP) in the CpG island of <i>MLH1</i> (<i>MLH1</i>-93G>A or rs1800734) is associated with CpG island hypermethylation and decreased <i>MLH1</i> expression in CRC tumours. | 28293327 | 2017 |
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|
0.090 | GeneticVariation | BEFREE | Additionally, there was no persuasive evidence showing that SNPs of rs1800734 and rs1799977 were related to CRC susceptibility. | 25986311 | 2015 |
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|
0.090 | GeneticVariation | BEFREE | The MLH1 -93G>A (rs1800734) polymorphism was detected by PCR-RFLP in 49 cases of colorectal cancer. | 25115745 | 2014 |
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|
0.090 | GeneticVariation | BEFREE | We previously demonstrated that SNPs (rs1800734, rs749072, and rs13098279) in the MLH1 gene region are associated with MLH1 promoter island methylation, loss of MLH1 protein expression, and microsatellite instability (MSI) in colorectal cancer (CRC) patients. | 23240038 | 2012 |
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|
0.090 | GeneticVariation | BEFREE | When candidate SNPs were examined, our data did not support most of the previously reported associations with CRC susceptibility, an exception being an effect of the MLH1 promoter SNP -93G>A (rs1800734). | 22294770 | 2012 |
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|
0.090 | GeneticVariation | BEFREE | We evaluated the significance of rs1800734 on CRC risk by genotyping 10 409 CRC cases and 6965 controls. | 21565826 | 2011 |
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|
0.090 | GeneticVariation | BEFREE | The observed association of rs1800734 with MSI-H CRC occurs through its effect on the MLH1 promoter methylation, MLH1 IHC deficiency, or both. | 20967208 | 2010 |