Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 GeneticVariation BEFREE In conclusion, our findings suggest that targeting ErbB-3 receptors could represent an effective therapeutic approach in BRAF-V600E mutant colon cancer. 26160848

2015

dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
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

dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
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
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 GeneticVariation BEFREE We used a shRNA-based genetic screen focused on genes upregulated in BRAF(V600E) CCs to identify vulnerabilities of this tumor subtype that might be exploited therapeutically. 27058664

2016

dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 GeneticVariation BEFREE Prognostic significance of defective mismatch repair and BRAF V600E in patients with colon cancer. 18519771

2008

dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
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
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 GeneticVariation BEFREE Female patients and older group harbored a higher KRAS mutation (P = 0.018 and P = 0.031, respectively); BRAF (V600E) mutation showed a higher frequency in colon cancer and poor differentiation tumors (P = 0.020 and P = 0.030, respectively); proximal tumors appeared a higher PIK3CA mutation (P<0.001) and distant metastatic tumors shared a higher NRAS mutation (P = 0.010). 24339949

2013

dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 GeneticVariation BEFREE Mechanisms of Acquired Resistance to BRAF V600E Inhibition in Colon Cancers Converge on RAF Dimerization and Are Sensitive to Its Inhibition. 28951457

2017

dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 GeneticVariation BEFREE The mutational status of KRAS and BRAF(V600E) oncogenes combined with analysis of the DNA mismatch repair system with/without the CpG island methylator phenotype (CIMP) has been shown to identify colon cancer subtypes with distinct clinical features and prognoses. 26872400

2016

dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 GeneticVariation BEFREE Sorafenib and cetuximab therapy led to a mixed radiographic response with some areas showing dramatic improvement and other areas showing stable disease over a 7-month period which is a notably long period of progression-free survival for V600E BRAF mutated colon cancer. 23792568

2013

dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 GeneticVariation BEFREE In contrast, colon cancers that harbour the same BRAF(V600E) mutation are intrinsically resistant to BRAF inhibitors, due to feedback activation of the epidermal growth factor receptor (EGFR). 24670642

2014

dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 GeneticVariation BEFREE We reproducibly associate higher expression of the ligand-receptor axis of TFF2 and CXCR4 with BRAF V600E-mutant colon cancer (P = 3.0 × 10(-3) and 0.077, respectively for TCGA; P = 3.0 × 10(-8) and 5.1 × 10(-7) for CIT). 25899003

2015

dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 GeneticVariation BEFREE The BRAF V600E mutation is reportedly associated with inferior survival among colon cancer patients. 25636897

2015

dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 GeneticVariation BEFREE The results of these studies suggest that combined treatment of BRAF(V600E)-driven colon cancers with both vemurafenib and EGFR inhibitors is worth clinical evaluation. 23074264

2012

dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 GeneticVariation BEFREE Long term response on Regorafenib in non-V600E BRAF mutated colon cancer: a case report. 31185985

2019

dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
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
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 GeneticVariation BEFREE Colon cancers from 2008 to 2012 tested by pyrosequencing for BRAF V600E mutation were selected. 23650027

2013

dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 GeneticVariation BEFREE BRAF (V600E) and KRAS mutations were analyzed in node-positive colon cancer patients (n = 3305) treated with FOLFOX-based chemotherapy in an adjuvant trial (Alliance N0147). 26160882

2015

dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
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
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
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