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 Plasma analyzed by mutant-specific PCR for V600E BRAF showed 86% sensitivity and 67% specificity in predicting tumor DNA sequencing results. 19088048

2008

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Univariate analysis revealed an association between the BRAF(V600E) mutation and both tumor size and extracapsular invasion. 19710001

2009

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE PXA has been demonstrated to manifest the V600E BRAF mutation in nearly 70 % of all tumors, a mutation that constitutively activates the BRAF/MEK signaling pathway. 23756728

2013

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE PLX4032 induces potent cell cycle arrest, inhibits proliferation, and initiates apoptosis exclusively in V600E-positive cells in a variety of in vitro experimental systems; follow-up xenograft studies demonstrate extreme selectivity and efficacy against melanoma tumors bearing the V600E oncoproduct. 20973932

2010

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE BRAF V600E mutation was found in 54.5%.It was more frequent in patients > 45 years (p=0.0001), and associated with larger tumour size (p=0.004). 26177218

2015

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Targeting CAS could represent a potential therapeutic approach particularly in combination with BRAF inhibitors such as vemurafenib in BRAF(V600E)-positive tumors. 26892809

2016

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE All tumors had a midline location (spinal cord n = 6, thalamus n = 5, brainstem n = 5, cerebellum n = 3, hypothalamus n = 1, and pineal region n = 1) and were IDH and BRAF-V600E wild type. 28201752

2017

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE While the association of the BRAF(V600E) mutation with aggressive histopathological tumor features and clinical behavior has been extensively studied in papillary thyroid carcinoma (PTC), the BRAF(K601E) mutation has not been well characterized. 26422023

2016

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Thus, testing for BRAF-V600E allows for a genetics-based differential diagnosis between HCL and HCL-like tumors, even noninvasively in routine blood samples. 28297625

2017

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE The tumor with T1799A BRAF mutation and tumor sizes of 2 cm or more were clinicopathologic parameters associated with lower STAT1 activity. 22514085

2012

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Five of the 7 (71%) responders were BRAF(WT), of which 1 carried c-KIT(L576P) and another N-RAS(Q61R) mutation, while only 2 (29%) of the responding tumors were BRAF(V600E/K). 22351689

2012

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE RNA-seq data was downloaded from the Gene Expression Omnibus (GEO) database for pre- and post-treatment tumor samples from three melanoma patients with EGFR-activating BRAF V600E mutations, and from The Cancer Genome Atlas (TCGA) melanoma database for tumor and non-tumor samples from patients with the BRAF V600E mutation and unknown EGFR activation status. 29387237

2018

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Indeed, PLX4720 not only directly limited BRAF(V600E)-induced tumor cell proliferation, but also affected NK cell functions. 25351955

2014

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 Mutational activation of BRAF is the most prevalent genetic alteration in human melanoma, with ≥50% of tumours expressing the BRAF(V600E) oncoprotein. 23302800

2013

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Six had V600E-positive tumours (n=4 had PD; n=1 had SD; n=1 unevaluable for response), and 11 had tumours containing wild-type BRAF (n=9 PD; n=1 SD; n=1 unevaluable for response). 16880785

2006

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Thirteen PTCs had the B-Raf proto-oncogene, serine/threonine kinase (BRAF) valine-to-glutamic acid mutation at position 600 (BRAF(V) (600E)) (13 of 27 tumors; 48%), 11 measured <2 cm, and 6 had lymphatic invasion (46%), with vascular invasion in 3. 26784937

2016

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE The BRAF-V600E mutation is associated with tumor aggressiveness and poor prognosis in melanoma patients. 27363650

2016

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Interestingly, MTDH expression was associated with extrathyroidal extension (p < 0.05) and not associated with age, gender, overall tumor stage, or BRAF (V600E) mutation status. 27146414

2016

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Molecular analysis demonstrated presence of BRAF V600E mutation in the tumor. 29389234

2018

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE BRAF V600E mutation testing of colorectal tumors demonstrating aberrant MLH1 protein expression by IHC was the most common secondary tumor test, with 53% of laboratories performing the test; 15% of laboratories also applied the BRAF V600E test to endometrial tumors with aberrant MLH1 expression despite no evidence for its utility. 30294856

2018

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Among unselected mCRC patients, BRAF V600E mutation was detected in 48 of 546 primary tumors (8.8%). 20857202

2011

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE We found that PLX4720 treatment downregulated tumor Ccl2 gene expression and decreased tumor CCL2 expression in both Braf(V600E) mouse melanoma transplants and in de novo melanomas in a manner that was coincident with reduced tumor growth. 23454771

2013

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Colorectal cancer (CRC) is one of the most common cancers worldwide, with 8-10% of these tumours presenting a BRAF (V600E) mutation. 30087414

2018

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