|
rs1800734
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Using sensitive allele-specific detection methods, we demonstrate that MLH1 is the target gene for rs1800734 mediated cancer risk.
|
31530880 |
2019 |
|
rs1799977
|
|
|
0.040 |
GeneticVariation |
BEFREE |
To elucidate the veritable relationship between three hMLH1 polymorphisms (rs1800734, rs1799977, rs63750447) and cancer risk, we performed this meta-analysis based on overall published data up to May 2017, from PubMed, Web of knowledge, VIP, WanFang and CNKI database, and the references of the original studies or review articles.
|
29190978 |
2017 |
|
rs1800734
|
|
|
0.040 |
GeneticVariation |
BEFREE |
This screen identifies the A-allele of rs1800734 within the promoter region of MLH1 as perturbing the binding of TFAP4 and consequently increasing DCLK3 expression through a long-range interaction, which promotes cancer malignancy through enhancing expression of the genes related to epithelial-to-mesenchymal transition.
|
28195176 |
2017 |
|
rs1799977
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The mutations of MLH1 V384D (15.7%), R217C (4.1%), and I219V (5.2%) were common in this cancer.
|
27487738 |
2016 |
|
rs876658657
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Our investigations demonstrated that the hMLH1 -93G/A polymorphism is not a candidate for susceptibility to overall cancers, and that the hMLH1 1151T/A polymorphism is significantly associated with higher cancer risk in Asian populations.
|
23587910 |
2013 |
|
rs1799977
|
|
|
0.040 |
GeneticVariation |
BEFREE |
For the I219V polymorphism, however, there was no main effect associated with overall cancer risk in any genetic model.
|
22631669 |
2012 |
|
rs1800734
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The -93G>A (rs1800734) polymorphism located in the promoter of mismatch repair gene, MLH1, has been identified as a low-penetrance variant for cancer risk.
|
23226285 |
2012 |
|
rs876658657
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The -93G>A (rs1800734) polymorphism located in the promoter of mismatch repair gene, MLH1, has been identified as a low-penetrance variant for cancer risk.
|
23226285 |
2012 |
|
rs876658657
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The meta-analysis suggested that the MLH1 -93G>A polymorphism may be a biomarker of cancer susceptibility.
|
22631669 |
2012 |
|
rs876658657
|
|
|
0.040 |
GeneticVariation |
BEFREE |
These findings showed no persuasive evidence that MLH1 -93 G/A polymorphism was associated with an increased risk of cancer.
|
21745804 |
2011 |
|
rs1799977
|
|
|
0.040 |
GeneticVariation |
BEFREE |
When the analysis was restricted to our 'super-controls', healthy individuals with no family history for cancer, also rs1799977:A>G (MLH1 I219V) was associated with an increased risk in both colon and rectum patients with an odds ratio of 1.28 (CI=1.02-1.60) and 1.34 (CI=1.05-1.72), respectively (under the dominant model); while 2 SNPs, rs1800932:A>G (MSH6 P92P) and rs459552:T>A (APC D1822V) seemed to confer a protective effect.
|
20149637 |
2010 |
|
rs1800734
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We hypothesised that a common substitution in the basal promoter of MLH1 (position -93, rs1800734) modifies the risk of cancer after methylating chemotherapy.
|
17959715 |
2008 |
|
rs63750447
|
|
|
0.030 |
GeneticVariation |
BEFREE |
To elucidate the veritable relationship between three hMLH1 polymorphisms (rs1800734, rs1799977, rs63750447) and cancer risk, we performed this meta-analysis based on overall published data up to May 2017, from PubMed, Web of knowledge, VIP, WanFang and CNKI database, and the references of the original studies or review articles.
|
29190978 |
2017 |
|
rs63750447
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The mutations of MLH1 V384D (15.7%), R217C (4.1%), and I219V (5.2%) were common in this cancer.
|
27487738 |
2016 |
|
rs56250509
|
|
|
0.030 |
GeneticVariation |
BEFREE |
However, we did not find association between polymorphism in MTHFR C677T and risk of hypermethylation in P16, MGMT, hMLH1 and hMLH2 genes either in cancer or remote normal-appearing tissues.
|
23803092 |
2013 |
|
rs63750447
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our investigations demonstrated that the hMLH1 -93G/A polymorphism is not a candidate for susceptibility to overall cancers, and that the hMLH1 1151T/A polymorphism is significantly associated with higher cancer risk in Asian populations.
|
23587910 |
2013 |
|
rs56250509
|
|
|
0.030 |
GeneticVariation |
BEFREE |
To explore the role of aberrant hypermethylation of cancer-related genes, such as P16, MGMT, and hMLH1, in the esophageal squamous cell carcinoma (ESCC) as well as its relation to dietary folate intake and MTHFR C677T polymorphism, we conducted a molecular epidemiologic study in China.
|
18199718 |
2008 |
|
rs56250509
|
|
|
0.030 |
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 |
|
rs587778967
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Two cancer syndrome gene variants likely to affect native translation initiation were identified by clinical genetic testing: MLH1:c.1A>G p.(Met1?) and BRCA2:c.67+3A>G.
|
24302565 |
2015 |
|
rs773647920
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Two cancer syndrome gene variants likely to affect native translation initiation were identified by clinical genetic testing: MLH1:c.1A>G p.(Met1?) and BRCA2:c.67+3A>G.
|
24302565 |
2015 |
|
rs587778967
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The carcinomas showed microsatellite instability in the presence of MLH1, PMS2, MSH2 and MSH6 proteins, indicating that the variant c.1A>G leads to an alternative protein with reduced activity that is retained in the tumours.Our data suggest that the MSH2 variant c.1A>G (p.Met1?) should not be considered as a regular pathogenic mutation that leads to a strongly increased cancer risk, though it possibly contributes to a more severe phenotype when combined with a truncating mutation on the other allele.
|
18781192 |
2009 |
|
rs773647920
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The carcinomas showed microsatellite instability in the presence of MLH1, PMS2, MSH2 and MSH6 proteins, indicating that the variant c.1A>G leads to an alternative protein with reduced activity that is retained in the tumours.Our data suggest that the MSH2 variant c.1A>G (p.Met1?) should not be considered as a regular pathogenic mutation that leads to a strongly increased cancer risk, though it possibly contributes to a more severe phenotype when combined with a truncating mutation on the other allele.
|
18781192 |
2009 |
|
rs63750339
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Surgically resected ACs (n=59) were examined regarding (1) clinicopathological features, (2) histological subtypes, (3) expression of IMP3, maspin, MUC5AC and S100P and (4) next-generation sequencing using a hybrid capture-based platform (Illumina HiSeq2500), including 315 cancer-related genes plus introns from 28 genes often rearranged or altered in cancer.
|
31256008 |
2019 |
|
rs4986984
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The mutations of MLH1 V384D (15.7%), R217C (4.1%), and I219V (5.2%) were common in this cancer.
|
27487738 |
2016 |
|
rs35502531
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We evaluated the role of MLH1 K618A in predisposition to cancer by genotyping 1512 control subjects to assess its frequency in the general population.
|
22426235 |
2012 |