rs876658657
|
|
Primary malignant neoplasm
|
|
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
|
|
Primary malignant neoplasm
|
|
0.040 |
GeneticVariation
|
BEFREE |
The meta-analysis suggested that the MLH1 -93G>A polymorphism may be a biomarker of cancer susceptibility.
|
22631669 |
2012 |
rs876658657
|
|
Primary malignant neoplasm
|
|
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 |
rs876658657
|
|
Primary malignant neoplasm
|
|
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
|
|
Primary malignant neoplasm
|
|
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 |
rs1799977
|
|
Primary malignant neoplasm
|
|
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 |
rs1799977
|
|
Primary malignant neoplasm
|
|
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 |
rs1799977
|
|
Primary malignant neoplasm
|
|
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 |
rs63750447
|
|
Primary malignant neoplasm
|
|
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 |
rs63750447
|
|
Primary malignant neoplasm
|
|
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 |
rs63750447
|
|
Primary malignant neoplasm
|
|
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 |
rs56250509
|
|
Primary malignant neoplasm
|
|
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 |
rs56250509
|
|
Primary malignant neoplasm
|
|
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 |
rs56250509
|
|
Primary malignant neoplasm
|
|
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 |
rs773647920
|
|
Primary malignant neoplasm
|
|
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
|
|
Primary malignant neoplasm
|
|
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 |
rs780406337
|
|
Primary malignant neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
Even rarer is the 1906G-->C MSH2 mutation carried by less than 1% of Ashkenazim, but as with other HNPCC mutations likely associated with a high risk of malignancy.
|
15516844 |
2004 |
rs63750899
|
|
Primary malignant neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
The mutated MLH1 P648S protein was found to be unstable but still functional in mismatch repair, suggesting that the cancer susceptibility in the family and possibly also the mild disease phenotype in the homozygous individual are linked to shortage of the functional protein.
|
15139004 |
2004 |
rs63750339
|
|
Primary malignant neoplasm
|
|
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 |
rs63750217
|
|
Primary malignant neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
No germline mutation was found in the whole coding sequences of hMSH2 and hMTH1, or in the conservative regions of hMLH1 in any patient, while one cancer DNA showed a somatic mutation at codon 682 (threonine to alanine) in hMSH2.
|
8766523 |
1996 |
rs4986984
|
|
Primary malignant neoplasm
|
|
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
|
|
Primary malignant neoplasm
|
|
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 |
rs1800734
|
|
Primary malignant neoplasm
|
|
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 |
rs1800734
|
|
Primary malignant neoplasm
|
|
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 |
rs1800734
|
|
Primary malignant neoplasm
|
|
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 |