Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Association between rectal or colon cancer risk and serine hydroxymethyltransferase 1 (SHMT1) C1420T or methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms was assessed. 20920350

2010

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE In microsatellite stable tumors, homozygous carriers of the G39E polymorphism had an increased risk of CIMP+ colon cancer (odds ratio (OR) 2.2, 95% confidence interval (CI) 1.1, 4.2) and BRAF V600E mutation (OR 3.1, 95% CI 1.01, 9.7) in a case-control comparison. 19582761

2009

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE These data suggest that the BRAF V600E mutation is not the target gene for abnormal MMR in carcinogenesis in patients with sporadic endometrial cancer, unlike in colon cancer. 19424571

2009

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with a decreased risk of colon cancer although it may increase the risk of breast cancer. 19123462

2009

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE (1) When men and women were assessed together, the frequencies of the MTHFR C677T and A1298 genotypes or their alleles were not significantly different between controls and co</span>lon cancer or rectal cancer cases. 18712959

2009

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE In microsatellite stable tumors, homozygous carriers of the G39E polymorphism had an increased risk of CIMP+ colon cancer (odds ratio (OR) 2.2, 95% confidence interval (CI) 1.1, 4.2) and BRAF V600E mutation (OR 3.1, 95% CI 1.01, 9.7) in a case-control comparison. 19582761

2009

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE These data suggest that the BRAF V600E mutation is not the target gene for abnormal MMR in carcinogenesis in patients with sporadic endometrial cancer, unlike in colon cancer. 19424571

2009

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Prognostic significance of defective mismatch repair and BRAF V600E in patients with colon cancer. 18519771

2008

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Prognostic significance of defective mismatch repair and BRAF V600E in patients with colon cancer. 18519771

2008

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE We investigated the role of BRAF activating mutation (BRAF-V600E) in colorectal tumourigenesis by studying the effects of forced expression of BRAF-V600E in the 'normal' colon epithelial NCM460 cell line and by targeting endogenous BRAF-V600E in MSI-High (MSI-H) colon cancer cell lines. 17427169

2007

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The BRAF V600E mutation and 5 CpG island markers (MINT1, MINT2, MINT31, p16 and hMLH1) were assessed in 1154 cases of colon cancer. 17096326

2007

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Relationships between adenomatous polyposis coli (APC) mutations, BRAF V600E mutations, and the CpG island methylator phenotype (CIMP) in colon cancer have not been explored. 17293392

2007

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Relationships between adenomatous polyposis coli (APC) mutations, BRAF V600E mutations, and the CpG island methylator phenotype (CIMP) in colon cancer have not been explored. 17293392

2007

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE The BRAF V600E mutation and 5 CpG island markers (MINT1, MINT2, MINT31, p16 and hMLH1) were assessed in 1154 cases of colon cancer. 17096326

2007

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE We investigated the role of BRAF activating mutation (BRAF-V600E) in colorectal tumourigenesis by studying the effects of forced expression of BRAF-V600E in the 'normal' colon epithelial NCM460 cell line and by targeting endogenous BRAF-V600E in MSI-High (MSI-H) colon cancer cell lines. 17427169

2007

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Recently, methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) mutations were discovered to be associated with childhood acute lymphoblastic leukemia (ALL), as well as colon cancer, lymphoma, esophageal and stomach cancer. 16886608

2006

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE We conclude that the BRAF V600E mutation in microsatellite-stable colon cancer is associated with a significantly poorer survival in stages 2 to 4 colon cancer but has no effect on the excellent prognosis of microsatellite-unstable tumors. 16024606

2005

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Adequate intake of folate was a protective factor from colon cancer (OR=0.32, 95% CI: 0.12-0.88) and MTHFR C677T</span> polymorphism showed a statistically significant effect (OR=0.25, 95% CI: 0.06-0.93), reducing the risk of colon cancer in groups that have an intake of folate exceeding 115.64ng per 1000kcal per day. 15829374

2005

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE We conclude that the BRAF V600E mutation in microsatellite-stable colon cancer is associated with a significantly poorer survival in stages 2 to 4 colon cancer but has no effect on the excellent prognosis of microsatellite-unstable tumors. 16024606

2005

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Recently, an oncogenic V600E hotspot mutation within BRAF, a kinase encoding gene from the RAS/RAF/MAPK pathway, has been found to be associated with sporadic MSI-H colon cancer, but its association with HNPCC remains to be further clarified. 15342696

2004

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The 5,10-methylenetetrahydrofolate reductase gene (MTHFR) 677C-->T polymorphism modifies the risk of coronary artery disease and colon cancer and is related to plasma concentrations of total homocysteine (tHcy). 15447919

2004

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Using data from an incident case-control study (1608 cases and 1972 controls) we investigated two polymorphisms in the MTHFR gene, C677T and A1298C, and their associations with risk of colon cancer. 14973104

2004

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Recently, an oncogenic V600E hotspot mutation within BRAF, a kinase encoding gene from the RAS/RAF/MAPK pathway, has been found to be associated with sporadic MSI-H colon cancer, but its association with HNPCC remains to be further clarified. 15342696

2004

dbSNP: rs1463038513
rs1463038513
APC
0.100 GeneticVariation BEFREE APC gene loss of heterozygosity, mutations, E1317Q, and I1307K germ-line variants in sporadic colon cancer in Croatia. 15507235

2004

dbSNP: rs1801155
rs1801155
APC
0.100 GeneticVariation BEFREE APC gene loss of heterozygosity, mutations, E1317Q, and I1307K germ-line variants in sporadic colon cancer in Croatia. 15507235

2004