|
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 |
|
rs56250509
|
|
|
0.050 |
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
|
|
|
0.050 |
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
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Although the mechanism responsible for the link between the C677T polymorphism and microsatellite instability was not apparent, this finding may provide a clue towards a better understanding of the pathogenesis of microsatellite instability in human colorectal cancer.
|
16819711 |
2006 |
|
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 |
|
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 |
|
rs63750447
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The overall results suggested that the mutation in rs63750447 predicted a higher CRC risk (AB vs. BB: OR 2.283, 95 % CI 1.612-3.232, P = 0.000; AA+AB vs. BB: OR 2.291, 95 % CI 1.618-3.244, P = 0.000), while rs1800734 and rs1799977 were not associated with CRC risks.
|
25986311 |
2015 |
|
rs63750447
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In a search for germline mutations in the DNA mismatch repair genes hMSH2 and hMLH1 in Chinese patients with colorectal cancer we identified a novel missense mutation (V384D) in exon 12 of the hMLH1 gene in 4 out of 26 individuals.
|
9526167 |
1998 |
|
rs756045117
|
|
|
0.020 |
GeneticVariation |
BEFREE |
DNMT3b -149C/T promoter variants and methylation of colorectal cancer-associated genes.
|
25769449 |
2015 |
|
rs756045117
|
|
|
0.020 |
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 |
|
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 |
|
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 |
|
rs63750242
|
|
|
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 |
|
rs63750977
|
|
|
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 |
|
rs63751310
|
|
|
0.010 |
GeneticVariation |
BEFREE |
R659X mutation in the MLH1 gene in hereditary non-polyposis colorectal cancer(HNPCC) in an Indian extended family.
|
20167975 |
2010 |
|
rs63751467
|
|
|
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 |
|
rs765480781
|
|
|
0.010 |
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 |
|
rs876659167
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The role of one of the most frequently reported MMR gene VUS, MSH2 c.380A>G (p.Asn127Ser), is especially interesting because its concomitant defect with another variant could finally explain its recurrent occurrence in CRC patients.
|
22581703 |
2012 |