Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800734
rs1800734
0.040 GeneticVariation BEFREE Modulation of transcription factor binding and epigenetic regulation of the MLH1 CpG island and shore by polymorphism rs1800734 in colorectal cancer. 28304185

2017

dbSNP: rs1800734
rs1800734
0.040 GeneticVariation BEFREE Additionally, there was no persuasive evidence showing that SNPs of rs1800734 and rs1799977 were related to CRC susceptibility. 25986311

2016

dbSNP: rs1800734
rs1800734
0.040 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

2013

dbSNP: rs1800734
rs1800734
0.040 GeneticVariation BEFREE We evaluated the significance of rs1800734 on CRC risk by genotyping 10 409 CRC cases and 6965 controls. 21565826

2011

dbSNP: rs1799977
rs1799977
0.020 GeneticVariation BEFREE Additionally, there was no persuasive evidence showing that SNPs of rs1800734 and rs1799977 were related to CRC susceptibility. 25986311

2016

dbSNP: rs35502531
rs35502531
0.020 GeneticVariation BEFREE The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals. 24743384

2014

dbSNP: rs35502531
rs35502531
0.020 GeneticVariation BEFREE We also reviewed the literature concerning MLH1 K618A in families with colorectal cancer. 22426235

2012

dbSNP: rs1799977
rs1799977
0.020 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

dbSNP: rs28930073
rs28930073
0.020 GeneticVariation BEFREE Genetic testing for the MLH1 D132H allele exclusively is therefore unlikely to be cost effective for genetic risk assessment in American population-based and clinic-based colorectal cancer and endometrial cancer patients. 15991064

2005

dbSNP: rs28930073
rs28930073
0.020 GeneticVariation BEFREE The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer. 15184898

2004

dbSNP: rs63750447
rs63750447
0.010 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

2016

dbSNP: rs63751595
rs63751595
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

dbSNP: rs63750693
rs63750693
0.010 GeneticVariation BEFREE For both mutations, the estimated penetrance is moderate (age-cumulative colorectal cancer risk by age 70 of 20.1% and 14.1% for c.306+5G>A and of 6.8% and 7.3% for c.1865T>A in men and women carriers, respectively) in the lower range of variability estimated for other pathogenic Spanish MLH1 mutations. 20858721

2010

dbSNP: rs756045117
rs756045117
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

2008

dbSNP: rs587778883
rs587778883
0.010 GeneticVariation BEFREE Furthermore, HNPCC CRCs had more G13D mutations than MSS (P < 0.0001), MSI-H (P = 0.02) or MSI-H tumours with hMLH1 hypermethylation (P = 0.03). 15294875

2005

dbSNP: rs765480781
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

dbSNP: rs63750217
rs63750217
0.010 GeneticVariation BEFREE The E-cadherin gene (CDH1) variants T340A and L599V in gastric and colorectal cancer patients in Korea. 10896919

2000