Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE More c.1799T>A (p.V600E) colorectal cancers were found in the right colon [47% (47/100)], compared with c.1781A>G (p.D594G) colorectal cancers [7% (1/15), <i>P</i> = 3.7 × 10<sup>-03</sup>]. 27815357 2017
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE Mutation analysis of 66 arbitrary selected colorectal carcinomas revealed that CD274-positive tumors usually (88%) carried the BRAF V600E mutation. 27813511 2017
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE None of the MMRD small bowel adenocarcinomas harbored the BRAF V600E mutation, whereas 60% of MMRD colorectal carcinomas were positive for BRAF V600E with concurrent loss of MLH1 and PMS2 expression. 27258561 2017
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE There were also tendencies toward associations of Fn-high with the BRAF V600E mutation (P = 0.047) and active Crohn-like lymphoid reactions (P = 0.052) in MSI-H CRCs. 28597080 2017
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE Alterations in <i>MEK1/2</i> occur in cancers, both in the treatment-naïve state and following targeted therapies, most notably BRAF and MEK inhibitors in <i>BRAF</i>-V600E-mutant melanoma and colorectal cancer. 28655712 2017
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE In 212 RAS wild-type patients, V600E mutation was higher in older patients (9.5% vs. 2.2%, p=0.017), women (9.2% vs. 2.2%, p=0.021) and right-sided CRCs (10.5% vs. 3.4%, p=0.06). dMMR was detected in 7.75% of all stages of CRCs, with the highest dMMR rate of 40% in stage II right-sided colon cancer. 28416767 2017
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE In the context of colorectal cancer, we present a method for constructing a surrogate biomarker that is able to predict with high accuracy whether a sample belongs to the "BRAF-positive" group, a high-risk group comprising V600E BRAF mutants and BRAF-mutant-like tumors. 28523274 2017
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE We provide a global assessment of gene expression motifs that differentiate BRAF V600E subtypes from other colorectal cancers. 27354468 2017
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE However, the prognostic implications of BRAF V600E mutation and the associated clinicopathological characteristics in CRCs remain controversial. 27914130 2017
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE Prognostic value of BRAF V600E mutation and microsatellite instability in Japanese patients with sporadic colorectal cancer. 27672042 2017
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE Identification and Characterization of Small-Molecule Inhibitors to Selectively Target the DFG-in over the DFG-out Conformation of the B-Raf Kinase V600E Mutant in Colorectal Cancer. 27624806 2016
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE In protein extracts (2 mg) from 11 CRC tissue specimens, the MRM assay could measure WT BRAF in all 11 cases (0.32-1.66 ng) and the V600E BRAF in two cases (0.1-0.13 ng; mutant-to-WT ratio, 0.16-0.17). 27497007 2016
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE Sporadic MSI CRC often harbours BRAF(V600E); however, no consistent data exist regarding targeted treatment approaches in BRAF(wt) MSI CRC. 26001389 2016
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE Common BRAF(V600E)-directed pathway mediates widespread epigenetic silencing in colorectal cancer and melanoma. 26787892 2016
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE Our data show that IHC could be used in routine clinical practice as a screening method for BRAF V600E mutant protein detection in CRC patients. 27569082 2016
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE Concomitant with such properties, EBI-907 exhibits potent and selective cytotoxicity against a broader range of BRAF(V600E)-dependent cell lines including certain colorectal cancer cell lines with innate resistance to Vemurafenib. 26810733 2016
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE The aim of this study was to evaluate the concordance between the BRAF (V600E) mutation test and immunohistochemistry (IHC) and to evaluate the diagnostic accuracy of BRAF IHC for colorectal cancer (CRC) through a systematic review, meta-analysis, and diagnostic test accuracy review. 27197524 2016
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE Although the presence of the BRAF V600E mutation is indicative of a sporadic cancer, up to 30% to 50% of colorectal carcinomas with MLH1 promoter hypermethylation will lack a BRAF mutation. 27438990 2016
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE The BRAF V600E mutation has been associated with worse survival in MSS CRC. 26376292 2016
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE We screened 535 formalin-fixed paraffin-embedded CRC tissue samples for the BRAF V600E mutation, and selected 7 BRAF-mutated and 7 KRAS-mutated CRCs that were tumor size, stage, and microsatellite status-matched. 27082577 2016
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE Immunohistochemical detection of the BRAF V600E mutant protein in colorectal cancers in Taiwan is highly concordant with the molecular test. 26588428 2016
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE Although BRAF(V600E) mutation is associated with adverse clinical outcomes in patients with colorectal cancer (CRC), response and resistance mechanisms for therapeutic BRAF(V600E) inhibitors remains poorly understood. 26750638 2016
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE Approximately 5-10% of metastatic colorectal cancers harbor a BRAF-V600E mutation, which is correlated with resistance to EGFR-targeted therapies and worse clinical outcome. 26160848 2015
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE The MSS/BRAF(V600E) subtype was associated with increased disease-specific mortality even in stage I-II CRC. 25973534 2015
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE We hypothesized it would be more commonly methylated and inactivated in serrated pathway colorectal cancers that are hallmarked by a BRAF V600E mutation and a methylator phenotype, compared to traditional pathway cancers that are BRAF wild type. 25613750 2015