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 |
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 |
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 |
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 |
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 |
rs1799977
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The MLH1 I219V polymorphism was associated with colorectal cancer susceptibility (P=0.01).
|
24595079 |
2013 |
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 |
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 |
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 |
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 |
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 |
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 |
Additionally, there was no persuasive evidence showing that SNPs of rs1800734 and rs1799977 were related to CRC susceptibility.
|
25986311 |
2015 |
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 |
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 |
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 |
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 |
rs1800734
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The MLH1 -93G>A (rs1800734) polymorphism was detected by PCR-RFLP in 49 cases of colorectal cancer.
|
25115745 |
2014 |
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 |
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 |
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 |
rs35502531
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We also reviewed the literature concerning MLH1 K618A in families with colorectal cancer.
|
22426235 |
2012 |
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 |
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 |
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 |