|
rs1800734
|
|
|
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 |
|
rs1224959447
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Nine such MLH1 variants have been identified in South American colorectal cancer (CRC) patients (p.Tyr97Asp, p.His112Gln, p.Pro141Ala, p.Arg265Pro, p.Asn338Ser, p.Ile501del, p.Arg575Lys, p.Lys618del, p.Leu676Pro), and evidence of pathogenicity or neutrality was not available for the majority of these variants.
|
29520894 |
2018 |
|
rs63750242
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Nine such MLH1 variants have been identified in South American colorectal cancer (CRC) patients (p.Tyr97Asp, p.His112Gln, p.Pro141Ala, p.Arg265Pro, p.Asn338Ser, p.Ile501del, p.Arg575Lys, p.Lys618del, p.Leu676Pro), and evidence of pathogenicity or neutrality was not available for the majority of these variants.
|
29520894 |
2018 |
|
rs63750977
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Nine such MLH1 variants have been identified in South American colorectal cancer (CRC) patients (p.Tyr97Asp, p.His112Gln, p.Pro141Ala, p.Arg265Pro, p.Asn338Ser, p.Ile501del, p.Arg575Lys, p.Lys618del, p.Leu676Pro), and evidence of pathogenicity or neutrality was not available for the majority of these variants.
|
29520894 |
2018 |
|
rs63751467
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Nine such MLH1 variants have been identified in South American colorectal cancer (CRC) patients (p.Tyr97Asp, p.His112Gln, p.Pro141Ala, p.Arg265Pro, p.Asn338Ser, p.Ile501del, p.Arg575Lys, p.Lys618del, p.Leu676Pro), and evidence of pathogenicity or neutrality was not available for the majority of these variants.
|
29520894 |
2018 |
|
rs1800734
|
|
|
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 |
|
rs1800734
|
|
|
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 |
|
rs1799977
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The G allele of rs1799977 polymorphism was proved to connect with susceptibility of colorectal cancer (allele model: OR = 1.21, P = 0.023; dominate model: OR = 1.32, P <0.0001) and prostate cancer (dominate model: OR = 1.36, P <0.0001).
|
29190978 |
2017 |
|
rs1800734
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Additionally, there was no persuasive evidence showing that SNPs of rs1800734 and rs1799977 were related to CRC susceptibility.
|
25986311 |
2015 |
|
rs1799977
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Additionally, there was no persuasive evidence showing that SNPs of rs1800734 and rs1799977 were related to CRC susceptibility.
|
25986311 |
2015 |
|
rs63750447
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The overall results suggested that the mutation in rs63750447 predicted a higher CRC risk (AB vs. BB: OR 2.283, 95 % CI 1.612-3.232, P = 0.000; AA+AB vs. BB: OR 2.291, 95 % CI 1.618-3.244, P = 0.000), while rs1800734 and rs1799977 were not associated with CRC risks.
|
25986311 |
2015 |
|
rs756045117
|
|
|
0.020 |
GeneticVariation |
BEFREE |
DNMT3b -149C/T promoter variants and methylation of colorectal cancer-associated genes.
|
25769449 |
2015 |
|
rs1800734
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The MLH1 -93G>A (rs1800734) polymorphism was detected by PCR-RFLP in 49 cases of colorectal cancer.
|
25115745 |
2014 |
|
rs876658657
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Two SNPs of hMLH1 (hMLH1 -93G>A and IVS3-1403A>T) were significantly associated with OS of CRC in dominant model and recessive model, respectively.
|
24793746 |
2014 |
|
rs876658657
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The MLH1 -93G>A (rs1800734) polymorphism was detected by PCR-RFLP in 49 cases of colorectal cancer.
|
25115745 |
2014 |
|
rs35502531
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals.
|
24743384 |
2014 |
|
rs876658657
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Our results suggest an influence of MLH1 promoter polymorphism -93G>A in modulating susceptibility risk in Malaysian CRC patients, especially those with sporadic disease.
|
23621208 |
2013 |
|
rs1799977
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The MLH1 I219V polymorphism was associated with colorectal cancer susceptibility (P=0.01).
|
24595079 |
2013 |
|
rs1800734
|
|
|
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 |
|
rs1800734
|
|
|
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 |
|
rs876658657
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Our results suggest that the MLH1 -93G>A polymorphism may contribute to individual susceptibility to CRC and act as a risk factor for MSI-CRC.
|
23226285 |
2012 |
|
rs35502531
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We also reviewed the literature concerning MLH1 K618A in families with colorectal cancer.
|
22426235 |
2012 |
|
rs876659167
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The role of one of the most frequently reported MMR gene VUS, MSH2 c.380A>G (p.Asn127Ser), is especially interesting because its concomitant defect with another variant could finally explain its recurrent occurrence in CRC patients.
|
22581703 |
2012 |
|
rs1800734
|
|
|
0.090 |
GeneticVariation |
BEFREE |
We evaluated the significance of rs1800734 on CRC risk by genotyping 10 409 CRC cases and 6965 controls.
|
21565826 |
2011 |
|
rs876658657
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The -93G > A (rs1800734) polymorphism within the core promoter region of the MutL homolog 1 (MLH1) gene has recently been proposed as a low penetrance variant for colorectal cancer (CRC).
|
21565826 |
2011 |