Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE The 677C > T mutation in 5,10-methylenetetrahydrofolate reductase and colorectal cancer risk. 10464674

1999

dbSNP: rs1217691063
rs1217691063
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE A common C to T transition (C677T) in the MTHFR gene is reported to reduce the risk for colorectal cancer and acute lymphocytic leukemia in homozygotes (TTs). 11408344

2001

dbSNP: rs1217691063
rs1217691063
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE This population-based case-control study was designed to investigate the interrelationships between polymorphisms in the methylenetetrahydrofolate (MTHFR C677T and A1298C) gene and other genes (MTR A2756G; MTRR A66G and CBS 844ins68), intake of B-vitamins and colorectal cancer risk (CRC). 12020105

2002

dbSNP: rs1217691063
rs1217691063
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE We conclude that the MTHFR 1298A>C polymorphism is a less substantial independent risk factor for colorectal cancer compared to the 677C>T polymorphism. 12042673

2002

dbSNP: rs1217691063
rs1217691063
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE This study investigated the relation of MTHFR C677T and A1298C polymorphisms to colorectal cancer in a case-control study in Fukuoka, Japan. 15546509

2004

dbSNP: rs1217691063
rs1217691063
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Colorectal cancer and the methylenetetrahydrofolate reductase 677C -> T and methionine synthase 2756A -> G polymorphisms: a study of 2,168 case-control pairs from the JANUS cohort. 15598777

2004

dbSNP: rs1217691063
rs1217691063
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Different polymorphisms have been described for this enzyme, the most studied being the C677T, which has been shown to be associated with predisposition to colorectal cancer in patients who consume a high alcohol diet. 15033905

2004

dbSNP: rs1217691063
rs1217691063
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE The MTHFR C677T polymorphism and colorectal cancer: the multiethnic cohort study. 15894672

2005

dbSNP: rs1217691063
rs1217691063
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Meta analysis of these studies showed that GSTT1 deletion (pooled OR = 1.42), N-acetyltransferase 2 (NAT2)-rapid acetylator phenotype and genotye (pooled OR = 1.08) and NAT2-rapid acetylator phenotype (pooled OR = 1.15) had a significantly increased risk for colorectal cancer (P<0.05), other genotypes like GSTM1 deletion, GSTP1 1le105Val, NAT1*10, NAT2-rapid acetylator genotype CYP1A1 L1e462Val, CYP1A1 MspI*C, MTHFR C677T and MTR A2759G had no significant relationship with colorectal cancer (P>0.05). 15637738

2005

dbSNP: rs1217691063
rs1217691063
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Although the underlying mechanisms still remain to be clarified, epidemiological findings regarding MTHFR C677T polymorphism provide strong evidence that adequate folate status confers protection from colorectal cancer. 16128738

2005

dbSNP: rs1217691063
rs1217691063
Malignant neoplasm of colon and/or rectum
0.100 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

dbSNP: rs1217691063
rs1217691063
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE This is the first report to our knowledge to provide evidence that the C677T</span> polymorphism modifies the age at onset of colorectal cancer in Caucasian Lynch syndrome subjects with the 677T allele having a protective effect. 17855693

2007

dbSNP: rs1217691063
rs1217691063
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE The protective effect of the homozygous variant TT form of the MTHFR genotype (C677T) on the risk of colorectal cancer seems to be modified by the level of methyl diets, that is, by folate, which has a protective effect, or conversely by alcohol. 17602711

2007

dbSNP: rs1217691063
rs1217691063
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE MTHFR C677T polymorphism may not be important in an individual's susceptibility to gastric and colorectal cancer in Turkey and may not be a useful marker for identifying patients at high risk of developing gastric and colorectal cancer. 16927418

2007

dbSNP: rs1217691063
rs1217691063
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Methylenetetrahydrofolate reductase C677T is not associated with expression of pyrimidine metabolic enzyme genes in colorectal cancer. 16866026

2007

dbSNP: rs1217691063
rs1217691063
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE MTHFR C677T and colorectal cancer risk: A meta-analysis of 25 populations. 17131337

2007

dbSNP: rs1217691063
rs1217691063
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE MTHFR C677T has differential influence on risk of MSI and MSS colorectal cancer. 17350979

2007

dbSNP: rs1217691063
rs1217691063
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE We report a population-based case-control study of folate intake, related dietary factors and MTHFR polymorphisms (C677T, A1298C) and colorectal cancer in a population with relatively high colorectal cancer incidence and relatively low folate intake. 18053312

2008

dbSNP: rs1217691063
rs1217691063
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Certain common polymorphisms within the MTHFR gene (C677T, A1298C) result in reduced enzymatic activity and have been associated with reduced risk for a variety of cancers such as acute lymphocytic leukemia, lung and colorectal cancer. 18804702

2008

dbSNP: rs1217691063
rs1217691063
Malignant neoplasm of colon and/or rectum
0.100 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

dbSNP: rs1217691063
rs1217691063
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE MTHFR 677 C>T and 1298 A>C polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer. 19156174

2009

dbSNP: rs1217691063
rs1217691063
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Association of the 677C -->T polymorphism in the MTHFR gene with colorectal cancer in Mexican patients. 19487547

2009

dbSNP: rs1217691063
rs1217691063
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE A study of the MTHFR gene polymorphism C677T in colorectal cancer. 19203896

2009

dbSNP: rs1217691063
rs1217691063
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE We aimed to test the hypothesis that the C677T genotype is involved in colorectal cancer. 20066895

2009

dbSNP: rs1217691063
rs1217691063
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE The MTHFR C677T and DeltaDNMT3B C-149T polymorphisms confer different risks for right- and left-sided colorectal cancer. 19326430

2009