Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Tumor-derived fibronectin is involved in melanoma cell invasion and regulated by V600E B-Raf signaling pathway. 16960555

2007

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE These data suggest that p16 deletion adversely impacts the outcomes of BRAF-driven gliomas, that high proliferation index may be a better marker of progression risk than BRAF, that BRAF rearrangement and BRAF V600E might not necessarily produce comparable outcomes, and that none of these markers is stronger than tumor location in determining prognosis in pediatric low-grade gliomas. 22492957

2012

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Tumor specimens were analyzed for microsatellite instability, KRAS (codons 12 and 13), BRAF (V600E), and PIK3CA (exons 9 and 20) mutations; MLH1 and MGMT methylation; and IGF2 expression by immunohistochemistry. 25110432

2014

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Tumors from 4 patients (22%) harbored BRAF V600E mutations, 2 (11%) had KRAS mutations (G12A, G13D) and 2 (11%) had HRAS mutations (Q61R, Q61K). 25641339

2015

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Given the strong genotype:phenotype correlation known to be present in thyroid cancer, the separation of BRAF(V600E)-like and RAS-like t</span>umors has profound implications for its classification, especially the follicular variant of papillary carcinoma. 26569424

2016

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Five-year disease-free survival was 89.6 % for BRAF(V600E) positive and 96.3 % for negative tumours, p < 0.001. 27138882

2016

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Tumor mismatch repair deficiency (MMR-D) and BRAF c.1799T > A (p.V600E) mutation status were also examined. 27821793

2017

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Tumor DNA was tested for microsatellite instability (MSI) and somatic mutations in oncogenes BRAF (V600E) and KRAS. 28921583

2018

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Tumor immunohistochemical (IHC) MMR for protein expression and microsatellite instability (MSI) status were evaluated, and in those with loss of MLH1 expression by IHC, somatic BRAF V600E mutation and both somatic and germline MLH1 methylation levels were studied. 30693488

2019

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Tumor cell sensitivity to vemurafenib can be predicted from protein expression in a BRAF-V600E basket trial setting. 31672130

2019

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE This observation is strongly supported by the analysis of a large database consisting of 712 BRAF V600E-positive melanoma samples showing higher rates of BRAF V600E and RAS mutations co-occurrence in metastatic lesions compared to local tumors (OR = 3.8, p = 0.035). 30036146

2018

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE A BRAF exon 15 V600E was identified in 3 of 61 GIST patients, who shared similar clinical features, being 49- to 55-years-old females and having their tumors located in the small bowel. 18615679

2008

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE A considerable proportion of BRAF V600E mutated tumour cells was detected in the cortical tumour component, whereas the pronounced leptomeningeal tumoural stroma was predominantly negative for VE1 binding. 23822828

2014

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE A molecular screening of the tumor revealed a BRAF V600E mutation. 31781502

2019

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE A network model for the determination of tumor metabolic fluxes from (13)C NMR kinetic isotopomer data has been developed and validated with perfused human DB-1 melanoma cells carrying the BRAF V600E mutation, which promotes oxidative metabolism. 26703469

2016

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE A panel of 34 hotspots, including RAS (KRAS and NRAS exons 2/3/4) and BRAF (V600E), was analyzed in tumor FFPE samples from 102 mCRC patients treated with anti-EGFR therapy. dPCR was compared with conventional quantitative PCR (qPCR). 27037411

2016

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE A quarter of tumors had a driver oncogene identified (EGFR/ALK/ROS1/BRAF V600E) with an approved oral targeted therapy, with the highest prevalence in those patients with no or light (≤15 pack-years) history of tobacco use. 29413057

2018

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE A renal metanephric adenoma showing both a 2p16e24 deletion and BRAF V600E mutation: a synergistic role for a tumor suppressor gene on chromosome 2p and BRAF activation? 24432405

2014

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE A subset of tumors from a total of 55 collected (25 polyps and 30 cancers) from 43 individuals across 11 families underwent pathology review, examination for V599E using allele-specific polymerase chain reaction, and for methylation of the MINT31 CpG island. 15765445

2005

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE About half of these tumors show characteristic BRAF-V600E mutation. 29615337

2018

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Accordingly, the combination of MEK inhibitor with EGFR inhibitor was effective at shrinking tumors in mouse model of BRAF non-V600E mutant lung cancer. 29348459

2018

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Activating point mutation of the BRAF gene resulting in V600E (previously designated as V599E) is a common event in thyroid papillary carcinoma, being found in approx 40% of this tumor. 16299399

2005

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Additionally, an analysis of the correlation network reconstructed using TCGA-SKCM emphasized KMO and KYNU with high variability among BRAF wild-type compared with V600E, which underscored their role in distinct CD4+ T-cell behavior in tumour immunity. 31434983

2019

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Additionally, the advent of small-molecule inhibitors of BRAF V600E rendered assessment of BRAF mutation status essential in tumors such as melanoma. 25744437

2015

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Agreement between tum</span>or tissue BRAF(V600E</span>) and plasma cfBRAF(V600E) was 84.3%. 25411185

2015