Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
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
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE Prognostic significance of defective mismatch repair and BRAF V600E in patients with colon cancer. 18519771

2008

dbSNP: rs113488022
rs113488022
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
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
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
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
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
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
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
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
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
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
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
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
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
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
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
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
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
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
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
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
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
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: rs1217691063
rs1217691063
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
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
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
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
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
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
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE Methylenetetrahydrofolate reductase 677 C-->T polymorphism and risk of proximal colon cancer in north Italy. 12576444

2003

dbSNP: rs1217691063
rs1217691063
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
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: rs121913377
rs121913377
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE Immunohistochemistry with Anti-BRAF V600E (VE1) Mouse Monoclonal Antibody is a Sensitive Method for Detection of the BRAF V600E Mutation in Colon Cancer: Evaluation of 120 Cases with and without KRAS Mutation and Literature Review. 29127628

2019

dbSNP: rs121913377
rs121913377
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE A colon cancer cell line with RNF43-G659Vfs*41 and BRAF-V600E mutations was sensitive to activation of Wnt/β-catenin signaling. 31811196

2019

dbSNP: rs121913377
rs121913377
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE Long term response on Regorafenib in non-V600E BRAF mutated colon cancer: a case report. 31185985

2019

dbSNP: rs121913377
rs121913377
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE Our results highlight the need to evaluate the action of glucocorticoid on cancer progression in melanoma, thyroid and colon carcinoma in which B-RAF-V600E is a frequent oncogene, and cancers in which evasion from senescence has been shown. 31371485

2019

dbSNP: rs121913377
rs121913377
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
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: rs121913377
rs121913377
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE Colon carcinoma BRAF V600E HT29 cells exhibited poor response to radiation compared to BRAF wild-type COLO320 and HCT116 cells. 29663854

2018

dbSNP: rs121913377
rs121913377
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE However, the cluster drawn by the two mutations of V600E and E542K showed that all samples with those mutations belonged to the right-sided colon cancer group. 29556349

2018