Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Among brain tumors, the BRAF (V600E) mutation is frequently associated with pleomorphic xanthoastrocytomas (PXAs) and gangliogliomas (GGs). 26264609

2015

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE An institutional cohort of 105 brain tumors (51 dysembryoplastic neuroepithelial tumors (DNTs), 14 subependymal giant cell astrocytomas (SEGAs), 12 glioblastoma with neuronal marker expression (GBM-N), and 28 pleomorphic xanthoastrocytomas (PXAs)) from 100 patients were investigated for the presence of BRAF(V600E) by direct sequencing. 25346165

2015

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE An activating mutation of BRAF (BRAF-V600E) has been reported in a subset of malignant brain tumors. 24721513

2014

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Future clinical trials should address whether BRAF V600E mutant brain tumour patients will benefit from BRAF V600E-directed targeted therapies. 24353007

2014

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE PKM2-regulated MLC2 phosphorylation, which is greatly enhanced by EGF stimulation or EGFRvIII, K-Ras G12V and B-Raf V600E mutant expression, plays a pivotal role in cytokinesis, cell proliferation and brain tumour development. 25412762

2014

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE The BRAF V600E mutation and KIAA1549-BRAF fusion are alterations found in several brain tumors and show a distinct prognostic impact in some entities. 31181803

2019

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Efficacy of BRAF V600E targeted therapies in brain tumors harboring the mutation has been shown in several case reports and is currently being studied in larger clinical trials. 29380516

2018

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE This report presents 2 cases of malignant brain tumors with <i>BRAF</i> V600E mutations that were resistant to radiation and temozolomide, and reports on their response to targeted treatment with the BRAF and MEK inhibitors dabrafenib and trametinib. 29632053

2018

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Epithelioid glioblastoma is a recognized glioblastoma variant, recently added to the World Health Organization brain tumor classification, with similar prognosis as the classic variant and B-Raf V600E mutations in 50% of the cases. 31258848

2019

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE The BRAF V600E mutation occurs frequently in certain brain tumors such as pleomorphic xanthoastrocytoma, ganglioglioma, and pilocytic astrocytoma, and less frequently in epithelioid and giant cell glioblastoma. 25885250

2015

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE BRAF V600E-mutations have been described in a modest 6% to 7% of primary central nervous system (CNS) tumors, but with increased prevalence in the pediatric population and in certain brain tumor subtypes. 24725538

2014

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE The patient's resected brain tumor is BRAF V600E mutated, NRAS wild type (WT), and TERT C250T mutated. 26597176

2015

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Future clinical trials should address whether BRAF (V600E) mutant brain tumor patients will benefit from BRAF (V600E)-directed targeted therapies. 21274720

2011

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Therefore the BRAF V600E mutation is a highly interesting oncological target in brain tumors. 27350555

2016

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Pleomorphic xanthoastrocytoma is a rare brain tumor with unique high frequency of BRAF V600E mutation which is plausible for targeted therapy. 29200156

2018

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Using BRAF(V600E) as a marker of autophagy dependence in pediatric brain tumors. 25484091

2014

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Emerging evidence support the effectiveness of targeted therapies for brain tumors with BRAF V600E mutation. 31345255

2019

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Autophagy inhibition improves chemosensitivity in BRAF(V600E) brain tumors. 24823863

2014

dbSNP: rs121913500
rs121913500
0.790 GeneticVariation BEFREE The IDH1-R132H mutation predicts a better clinical outcome for glioma patients, and the expression of IDH1-R132H correlates with a favorable outcome in patients with brain tumors. 27655638

2016

dbSNP: rs121913500
rs121913500
0.790 GeneticVariation BEFREE The aim of this study is to investigate in depth the prevalence of non-R132H IDH ("non-canonical") mutations in brain tumors classified according to the 2016 WHO scheme and their clonal distribution in neoplastic cells. 28748342

2017

dbSNP: rs121913500
rs121913500
0.790 GeneticVariation BEFREE This study evaluates the presence of R132H mutation in isocitrate dehydrogenase (<i>IDH1</i>) gene and the vascular endothelial growth factor (<i>VEGF</i>) +936 C/T polymorphism in brain tumors. 28948065

2017

dbSNP: rs121913500
rs121913500
0.790 GeneticVariation BEFREE A total of 343 brain tumors were studied for IDH1 and IDH2 mutations by direct sequencing and for protein expression by immunohistochemistry with mIDH1(R132H) antibody. 21643842

2011

dbSNP: rs121913500
rs121913500
0.790 GeneticVariation BEFREE Mean CBF1 expression is significantly increased in isocitrate dehydrogenase 1 (IDH1) R132H mutant glioblastoma and serves as prognostic marker for prolonged overall survival in brain tumours, particularly after therapy with temozolomide. 28571041

2017

dbSNP: rs121913500
rs121913500
0.790 GeneticVariation BEFREE Patients/Methods In a prospective cohort study, intratumoral IDH1 R132H mutation and podoplanin were determined in brain tumor specimens (mainly glioma) by immunohistochemistry. 29676036

2018

dbSNP: rs121913500
rs121913500
0.790 GeneticVariation BEFREE Here, we describe the isolation of a glioma brain tumor stem cell line (BT142) with an endogenous R132H mutation in IDH1, aggressive tumor-initiating capacity, and 2-HG production. 22166263

2012