|
rs63750447
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In a search for germline mutations in the DNA mismatch repair genes hMSH2 and hMLH1 in Chinese patients with colorectal cancer we identified a novel missense mutation (V384D) in exon 12 of the hMLH1 gene in 4 out of 26 individuals.
|
9526167 |
1998 |
|
rs56250509
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Females who were heterozygous or homozygous for the C677T MTHFR polymorphism were at increased risk of developing CIMP+ CRC (odds ratio 2.17, 95% confidence interval 1.03-4.57; p=0.037).
|
12427779 |
2002 |
|
rs28930073
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Association studies identified a new MLH1 variant (415G-->C, resulting in the amino acid substitution D132H) in approximately 1.3% of Israeli individuals with CRC self-described as Jewish, Christian and Muslim.
|
15184898 |
2004 |
|
rs1418586322
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Although rare in the general population, the A636P mutation is detected in up to 7% of Ashkenazi Jewish patients with early age-of-onset colorectal cancer, and may account for up to one third of HNPCC in the Ashkenazi Jewish population.
|
15516845 |
2004 |
|
rs765480781
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association studies identified a new MLH1 variant (415G-->C, resulting in the amino acid substitution D132H) in approximately 1.3% of Israeli individuals with CRC self-described as Jewish, Christian and Muslim.
|
15184898 |
2004 |
|
rs28930073
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The MLH1 D132H risk variant has significantly lower allele frequency in American compared with Israeli cancer patients and, alone, is unlikely to explain significant amounts of American sporadic colorectal cancer or uterine cancer susceptibility.
|
15991064 |
2005 |
|
rs56250509
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Although the mechanism responsible for the link between the C677T polymorphism and microsatellite instability was not apparent, this finding may provide a clue towards a better understanding of the pathogenesis of microsatellite instability in human colorectal cancer.
|
16819711 |
2006 |
|
rs876658657
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Among case patients from Ontario, an association between the MLH1 -93G>A polymorphism and a strong family history of colorectal cancer (for Amsterdam criteria I and II, P = .004 and P = .02, respectively) was observed.
|
17374836 |
2007 |
|
rs1799977
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Four single nucleotide polymorphisms in 3 mismatch repair genes (MSH3 R940Q, MSH3 T1036A, MSH6 G39E and MLH1 I219V) were genotyped in 237 colorectal cancer cases and a subcohort of 2,189 participants.
|
17205513 |
2007 |
|
rs56250509
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The diversity of the Mediterranean diet and the heterogeneity of acquired epigenetic alterations in colorectal cancer (CRC) led us to examine the possible association between dietary factors and promoter hypermethylation in genes implicated in the pathogenesis of these neoplasms (p16(INK4a), p14(ARF), hMLH1) and the interaction with methylene tetrahydrofolate reductase (MTHFR) C677T polymorphism.
|
17465256 |
2007 |
|
rs56250509
|
|
|
0.050 |
GeneticVariation |
BEFREE |
When MTHFR C677T genotype frequencies in MSS CRC cases were compared to controls, individuals with homozygous variant genotype were at 19% reduced risk of cancer compared to wild type (OR = 0.81; 95% CI: 0.65-1.02).
|
17350979 |
2007 |
|
rs1418586322
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We previously described a founder mutation, MSH2*1906G >C (A636P) that causes HNPCC in 8/1345 (0.59%) of Ashkenazim with colorectal cancer.
|
17414604 |
2007 |
|
rs756045117
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In conclusion, we have found a strong association between the germline polymorphism (c.-56C>T) of the MGMT promoter and promoter methylation/silencing of MGMT in colorectal cancer.
|
17621591 |
2007 |
|
rs1466012753
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, we have found a strong association between the germline polymorphism (c.-56C>T) of the MGMT promoter and promoter methylation/silencing of MGMT in colorectal cancer.
|
17621591 |
2007 |
|
rs876658657
|
|
|
0.080 |
GeneticVariation |
BEFREE |
These findings suggest that the MLH1 -93G>A polymorphism defines a low penetrance risk allele for CRC.
|
18712731 |
2008 |
|
rs876658657
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The MLH1 -93 G>A promoter polymorphism has been reported to be associated with an increased risk of microsatellite unstable colorectal cancer.
|
18615680 |
2008 |
|
rs56250509
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Methylenetetrahydrofolate reductase C677T genotype affects promoter methylation of tumor-specific genes in sporadic colorectal cancer through an interaction with folate/vitamin B12 status.
|
18595133 |
2008 |
|
rs1799977
|
|
|
0.050 |
GeneticVariation |
BEFREE |
In relation to the more frequent 655A-->G polymorphism, association analyses revealed that G carriers (AG or GG genotype) displayed a higher risk of CRC compared with AA homozygous [odds ratio (OR) AG=2.55, 95% confidence interval (CI)=1.48-4.39; P=0.01 and OR GG=2.48, 95% CI=1.20-5.11; P=0.01, respectively].
|
19665066 |
2009 |
|
rs1800734
|
|
|
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 |
|
rs63751310
|
|
|
0.010 |
GeneticVariation |
BEFREE |
R659X mutation in the MLH1 gene in hereditary non-polyposis colorectal cancer(HNPCC) in an Indian extended family.
|
20167975 |
2010 |
|
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 |
|
rs35502531
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We genotyped p.Lys618Ala in 1034 individuals (373 sporadic colorectal cancer [CRC] patients, 250 index subjects from families suspected of having LS [revised Bethesda guidelines] and 411 controls).
|
21247423 |
2011 |
|
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 |