Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 GeneticVariation BEFREE Epithelioid GBM with BRAF V600E mutation can be considered a good treatment indication for precision medicine, and this patient-derived cell line should be useful for prediction of the tumor response and clarification of its biological characteristics. 31345255

2019

dbSNP: rs113488022
rs113488022
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
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
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 GeneticVariation BEFREE BRAF V600E, TERT promoter mutations and CDKN2A/B homozygous deletions are frequent in epithelioid glioblastomas: a histological and molecular analysis focusing on intratumoral heterogeneity. 29105198

2018

dbSNP: rs113488022
rs113488022
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 GeneticVariation BEFREE The aim of the current study was to examine BRAF V600E mutations in 20 GBMs, including GBMs with epithelioid features, giant cell GBMs and conventional GBMs. 30013630

2018

dbSNP: rs113488022
rs113488022
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 GeneticVariation BEFREE Here, we describe a case of systemic metastases of a clonal subpopulation of BRAF V600E mutated glioblastoma in a patient previously treated with surgery, radiation, temozolomide and bevacizumab. 29744614

2018

dbSNP: rs113488022
rs113488022
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 GeneticVariation BEFREE This case suggests that the BRAF V600E mutation may be involved in the malignant transformation to glioblastoma. 26404554

2016

dbSNP: rs113488022
rs113488022
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 GeneticVariation BEFREE The serine/threonine-protein kinase B-Raf (BRAF) V600E mutation has been found at a high frequency of 54% in epithelioid glioblastomas. 26375727

2016

dbSNP: rs113488022
rs113488022
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 GeneticVariation BEFREE Our data suggest routine screening for BRAF V600E mutations for glioblastomas WHO grade IV below the age of 30, especially in glioblastomas with epithelioid features and in all rhabdoid meningiomas WHO grade III. 27350555

2016

dbSNP: rs113488022
rs113488022
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 GeneticVariation BEFREE We report here the detection of the BRAF V600E mutation in a patient with c-GBM and describe the patient's clinical course as well as the results of histopathological analysis. 25885250

2015

dbSNP: rs113488022
rs113488022
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
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
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 GeneticVariation BEFREE BRAF VE1 immunoreactivity patterns in epithelioid glioblastomas positive for BRAF V600E mutation. 25581727

2015

dbSNP: rs113488022
rs113488022
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 GeneticVariation BEFREE These findings suggest that epithelioid GBM may arise from a PXA with a BRAF V600E mutation. 24894018

2014

dbSNP: rs113488022
rs113488022
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 GeneticVariation BEFREE BRAF V600E mutational analyses should be performed on E-GBMs, particularly in all pediatric and young-aged adults, given the potential for BRAF inhibitor therapy in this subset of GBM patients. 23552385

2013

dbSNP: rs113488022
rs113488022
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 GeneticVariation BEFREE BRAF V600E mutations were identified in only 2 of 71 (2.8%) glioblastoma (GBM) analyzed, including 1 of 9 (11.1%) giant cell GBM (gcGBM). 21479234

2011