|
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 |
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 MLH1 I219V polymorphism was associated with colorectal cancer susceptibility (P=0.01).
|
24595079 |
2013 |
|
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 |
|
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 |
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 |
|
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 |
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 |
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 |
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 |
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 |
The MLH1 -93G>A (rs1800734) polymorphism was detected by PCR-RFLP in 49 cases of colorectal cancer.
|
25115745 |
2014 |
|
rs267607894
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer.
|
8872463 |
1996 |
|
rs267607894
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Genetic analysis of familial colorectal cancer in Israeli Arabs.
|
12655564 |
2003 |
|
rs267607894
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis.
|
9087566 |
1997 |
|
rs267607894
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.
|
18033691 |
2008 |
|
rs267607894
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer.
|
9032648 |
1997 |
|
rs267607894
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases.
|
14504054 |
2003 |
|
rs267607894
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer.
|
12132870 |
2001 |