Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs113488022
rs113488022
0.100 GeneticVariation BEFREE However, this same agent does not generally benefit colon cancer patients who have the BRAF(V600E) mutation. 23074264

2012

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE A set of 668 stage II and III CC samples from the PETACC-3 (Pan-European Trails in Alimentary Tract Cancers) clinical trial were used to assess differential gene expression between c.1799T>A (p.V600E) BRAF mutant and non-BRAF, non-KRAS mutant cancers (double wild type) and to construct a gene expression-based classifier for detecting BRAF mutant samples with high sensitivity. 22393095

2012

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Vemurafenib is a B-Raf V600E inhibitor that exerts significant inhibitory effects in melanoma but not in colon cancer, and the mechanism of vemurafenib resistance remains unclear. 30872078

2019

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: rs113488022
rs113488022
0.100 GeneticVariation BEFREE MSI and the BRAF(V600E) mutation have a prognostic impact in colon cancer. 24964758

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The BRAF V600E mutation is reportedly associated with inferior survival among colon cancer patients. 25636897

2015

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE An interaction was observed between the MTHFR C677T polymorphism and freshwater fish consumption on colon cancer risk (P value for interaction = 0.031). 20551579

2010

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE In summary, this meta-analysis suggests that MTHFR C677T polymorphism is associated with increased breast cancer, gastric cancer, and hepatocellular cancer risk in Asians, is associated with increased gastric cancer, multiple myeloma, and NHL risk in Caucasians, is associated with decreased AALL risk in Caucasians, is associated with decreased CALL risk in Asians, is associated with increased breast cancer risk in Asians, is associated with decreased colon cancer risk, and is associated with decreased colorectal cancer risk in male population. 26081619

2015

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The MTHFR polymTHFR polymorphisms, especially the 677C-->T mutation, may contribute to vascular and birth defect risks, while reducing the risk of certain malignancies, such as colon cancer. 14633777

2003

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: 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 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 (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: 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: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Methylenetetrahydrofolate reductase 677 C-->T polymorphism and risk of proximal colon cancer in north Italy. 12576444

2003

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: 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: 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 BRAF V600E was associated with advanced TNM (P < 0.001), more distant metastases (P = 0.025), and worse overall survival (OS, P < 0.001; multivariate HR = 4.2, P = 0.004) in colon cancer patients. 25367198

2014

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE A set of 668 stage II and III CC samples from the PETACC-3 (Pan-European Trails in Alimentary Tract Cancers) clinical trial were used to assess differential gene expression between c.1799T>A (p.V600E) BRAF mutant and non-BRAF, non-KRAS mutant cancers (double wild type) and to construct a gene expression-based classifier for detecting BRAF mutant samples with high sensitivity. 22393095

2012

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE The clinical studies in the manuscript by Al-Marrawi et al. describe the rational combination of signaling inhibitors in a colon cancer patient whose tumor cells express a mutant active B-RAF V600E protein that signals into the MEK1/2-ERK1/2 pathway downstream of K-RAS; this is a particularly aggressive form of colon cancer for which few rational therapeutic interventions have been available until recent times. 24025253

2013

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE However, this same agent does not generally benefit colon cancer patients who have the BRAF(V600E) mutation. 23074264

2012

dbSNP: rs121913377
rs121913377
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 MSI and the BRAF(V600E) mutation have a prognostic impact in colon cancer. 24964758

2014