|
rs876658657
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Several studies have investigated the associations of hMLH1 -93G>A (rs1800734) and Ile219Val (rs1799977) in diverse tumor types with discordant results, but their roles in ovarian cancer in the Chinese population remains to be elucidated.
|
26275295 |
2015 |
|
rs876658657
|
|
|
0.040 |
GeneticVariation |
BEFREE |
When stratified by tumor location, hMLH1 -93G>A and IVS3-1403A>T were associated with colon cancer survival (for hMLH1 -93G>A, AA+AG vs. GG, HRadj = 0.34, 95 % CI 0.17-0.68, p < 0.01; for hMLH1 IVS3-1403A>T, AT vs. AA, HR(adj) = 2.20, 95 % CI 1.11-4.36, p = 0.02), rather than rectal cancer.
|
24793746 |
2014 |
|
rs876658657
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The variant MLH1 -93G>A appears to be related to cases with focal IHC activity more than to complete absence of the MLH1 protein in the tumour tissue.
|
23374646 |
2013 |
|
rs876658657
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The MLH1 -93 G>A promoter polymorphism was associated with CIMP (odds ratio (OR) 3.44, 95% confidence interval (CI) 1.85, 6.42), MLH1 methylation (OR 4.16, 95%CI 2.20, 7.86), BRAF mutations (OR 4.26, 95%CI 1.83, 9.91), and older age at diagnosis (OR 3.65, 95%CI 2.08, 6.39) in microsatellite unstable tumors.
|
18615680 |
2008 |
|
rs56250509
|
|
|
0.030 |
GeneticVariation |
BEFREE |
MTHFR 677C>T genotype and folate status were generally not associated with DNA methylation in the colon of a folate-replete population without neoplasia.
|
24108782 |
2013 |
|
rs56250509
|
|
|
0.030 |
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 |
|
rs56250509
|
|
|
0.030 |
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 |
|
rs1800734
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The rs1800734-AA genotype had a higher cumulative DDRd weight as well as higher mutational load; TP53 was the most common somatically altered DDR gene.MSI was observed in 24% of the tumors.
|
30952131 |
2019 |
|
rs1799977
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Several studies have investigated the associations of hMLH1 -93G>A (rs1800734) and Ile219Val (rs1799977) in diverse tumor types with discordant results, but their roles in ovarian cancer in the Chinese population remains to be elucidated.
|
26275295 |
2015 |
|
rs1800734
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Several studies have investigated the associations of hMLH1 -93G>A (rs1800734) and Ile219Val (rs1799977) in diverse tumor types with discordant results, but their roles in ovarian cancer in the Chinese population remains to be elucidated.
|
26275295 |
2015 |
|
rs35502531
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The germline MLH1 K618A variant and susceptibility to Lynch syndrome-associated tumors.
|
22426235 |
2012 |
|
rs35502531
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A subset of colorectal tumour DNA samples from 17 patients carrying the p.Lys618Ala variant was screened for microsatellite instability using five mononucleotide markers.
|
21247423 |
2011 |
|
rs1799977
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In this case-control study, we analyzed three MLH1 single-nucleotide polymorphisms (exon 5: 415G-->C, rs28930073; exon 8: 655A-->G, rs1799977 and exon 16: 1852-1853AA-->GC) in 140 sporadic colorectal cancer cases and 125 healthy individuals to evaluate the relationship among CRC risk and clinicopathologic and genetic characteristics of the tumors.
|
19665066 |
2009 |
|
rs63750447
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Tumor mutation burdens (TMB) were not significantly different between MLH1 V384D carrier and wild type.
|
31358837 |
2019 |
|
rs565410865
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The SNPs rs565410865 was also statistical significance between the genotypes of and the age group (p = 0.0027) and tumor location (p = 0,0191).
|
28667494 |
2018 |
|
rs267607713
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors.
|
25060679 |
2015 |
|
rs756045117
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Considering the role of the DNMT3b -149C/T promoter polymorphism on the gene expression, we evaluated the associations of this polymorphism with colorectal cancer (CRC) risk and hypermethylation of six tumor suppressor genes in CRC tumors.
|
25769449 |
2015 |
|
rs63751194
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We recommend a screening strategy for the local LS by starting with tumor IHC and the hotspot mutation testing at MLH1 c.793C>T followed by comprehensive mutation scanning in MLH1 and MSH2 prior to proceeding to other MMR genes.
|
24710284 |
2014 |
|
rs587778967
|
|
|
0.010 |
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 |
|
rs63751701
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The objective of our investigation was to evaluate associations between the MSH6 G39E (116G>A) polymorphism and CpG island methylator phenotype (CIMP) and BRAF V600E mutations in tumors from a sample of 1048 individuals with colon cancer and 1964 controls from Utah, Northern California, and Minnesota.
|
19582761 |
2009 |
|
rs773647920
|
|
|
0.010 |
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 |
|
rs35831931
|
|
|
0.010 |
GeneticVariation |
BEFREE |
After subsequent analysis of the whole family of the index patient, the p.Val716Met variant can be defined as a rare polymorphism with the possible contribution of pathogenicity to tumor formation and c.2210+1G>C as a true pathogenic mutation causing an out-of-frame deletion of exon 13.
|
17189986 |
2006 |
|
rs376642306
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we show segregation of the putative pathogenic MSH6 missense mutation c.1346T>C p.Leu449Pro with microsatellite instability-high Lynch syndrome-related tumours lacking MSH6 expression in a large 17th century pedigree.
|
16283884 |
2005 |
|
rs63750193
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we show segregation of the putative pathogenic MSH6 missense mutation c.1346T>C p.Leu449Pro with microsatellite instability-high Lynch syndrome-related tumours lacking MSH6 expression in a large 17th century pedigree.
|
16283884 |
2005 |
|
rs63751094
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the tumor from the patient with the missense mutation c.122A>G [p.D41G] a normal expression of the proteins coded by MLH1 and MSH2 was noticed.
|
15365996 |
2004 |