Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0699790
Disease:
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: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0699790
Disease:
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: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0699790
Disease:
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: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0699790
Disease:
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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0699790
Disease:
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: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0699790
Disease:
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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0699790
Disease:
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: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0699790
Disease:
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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0699790
Disease:
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: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0699790
Disease:
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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0699790
Disease:
Colon Carcinoma
0.100 GeneticVariation BEFREE Prognostic significance of defective mismatch repair and BRAF V600E in patients with colon cancer. 18519771 2008
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0699790
Disease:
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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0699790
Disease:
Colon Carcinoma
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: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0699790
Disease:
Colon Carcinoma
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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0699790
Disease:
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: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0699790
Disease:
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: rs1238788540
rs1238788540
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE In a study of 1,604 incident colon cancer cases and 1,969 matched population-based controls genotyped for BER variants OGG1 (S326C) and XRCC1 (R194W, R280H, and R399Q), we found no associations with colon cancer overall. 19959686 2009
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0699790
Disease:
Colon Carcinoma
0.100 GeneticVariation BEFREE Unresponsiveness of colon cancer to BRAF(V600E) inhibition through feedback activation of EGFR. 22281684 2012
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0699790
Disease:
Colon Carcinoma
0.100 GeneticVariation BEFREE Unresponsiveness of colon cancer to BRAF(V600E) inhibition through feedback activation of EGFR. 22281684 2012
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0699790
Disease:
Colon Carcinoma
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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0699790
Disease:
Colon Carcinoma
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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0699790
Disease:
Colon Carcinoma
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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0699790
Disease:
Colon Carcinoma
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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0699790
Disease:
Colon Carcinoma
0.100 GeneticVariation BEFREE Herein, we present the case of a patient with bulky V600E-mutant BRAF hepatic flexure colon carcinoma, treated initially with FOLFOX plus bevacizumab neoadjuvant therapy and surgery. 23792567 2013
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0699790
Disease:
Colon Carcinoma
0.100 GeneticVariation BEFREE Herein, we present the case of a patient with bulky V600E-mutant BRAF hepatic flexure colon carcinoma, treated initially with FOLFOX plus bevacizumab neoadjuvant therapy and surgery. 23792567 2013