rs121913377, BRAF

N. diseases: 480
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.100 GeneticVariation BEFREE PA and GG BRAF V600E-mutant had significantly lower rADCmean (p < 0.001) and rADCmin (p < 0.001) values than wild type, regardless of tumor histology and location. 31667545 2020
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.100 GeneticVariation BEFREE The p.Val600Glu was found in 14/75 grade II GG.No EP were BRAF mutated. 31673897 2019
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.100 GeneticVariation BEFREE In the third case, where the interval spanned multiple decades, the GG was found to be positive for both BRAF p.V600E immunohistochemistry (IHC) and for the KIAA1549-BRAF fusion. 31147230 2019
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.100 GeneticVariation BEFREE Thus BRAF V600E mutation is common in desmoplastic non-infantile astrocytoma/ganglioglioma, but does not affect the prognosis. 29902580 2018
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.100 GeneticVariation BEFREE Here, we show that the oncogenic BRAF somatic mutation p.Val600Glu (V600E) in developing neurons underlies intrinsic epileptogenicity in ganglioglioma, one of the leading causes of intractable epilepsy<sup>2</sup>. 30224756 2018
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.100 GeneticVariation BEFREE We demonstrate in this first series of midline GGs that the H3 K27M mutation can occur in association with the BRAF V600E mutation in grade I glioneuronal tumors. 27984673 2018
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.100 GeneticVariation BEFREE Three gangliogliomas with BRAF p.V600E mutation had concurrent CDKN2A homozygous deletion and one additionally harbored a subclonal mutation in PTEN. 29880043 2018
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.100 GeneticVariation BEFREE These data suggest that BRAF V600E can predict the regrowth rate of brainstem gangliogliomas after microsurgery, and a BRAF V600E-targeted therapeutic may be a promising early intervention measure for patients who harbour BRAF V600E mutation after microsurgery. 28986151 2017
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.100 GeneticVariation BEFREE Desmoplastic infantile astrocytoma/ganglioglioma with rare BRAF V600D mutation. 27860162 2017
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.100 GeneticVariation BEFREE In GGs alone, high expression of LC3B revealed significant correlation with BRAF V600E mutation and temporal location (P=0.020; P=0.015), while Beclin-1 showed no correlation with them (P>0.05). 28667867 2017
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.100 GeneticVariation BEFREE BRAF V600E mutations (20 pediatric, 7 young adults and 2 adults) were found mostly in gangliogliomas, PXAs, few astrocytomas and few DNTs. 26115961 2016
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.100 GeneticVariation BEFREE Combined pleomorphic xanthoastrocytoma-ganglioglioma with BRAF V600E mutation: case report. 27015517 2016
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.100 GeneticVariation BEFREE An extensive literature search revealed that our patient is the fourth case of pigmented ganglioglioma described in the literature and was positive for BRAF V600E mutation by molecular studies. 26432496 2016
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.100 GeneticVariation BEFREE In conclusion, although spinal gangliogliomas display histologic and clinical features similar to their supratentorial counterparts, they show a relatively low frequency of BRAF(V600E) mutations, alteration otherwise common in hemispheric and brain stem gangliogliomas. 26826417 2016
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.100 GeneticVariation BEFREE Personalized Treatment for a Patient With a BRAF V600E Mutation Using Dabrafenib and a Tumor Treatment Fields Device in a High-Grade Glioma Arising From Ganglioglioma. 27799506 2016
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.100 GeneticVariation BEFREE A BRAF:p.V600E mutation was present in 35 % of gangliogliomas and 18 % of DAs. 26810070 2016
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.100 GeneticVariation BEFREE BRAF V600E mutation in neocortical posterior temporal epileptogenic gangliogliomas. 25937573 2015
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.100 GeneticVariation BEFREE Among brain tumors, the BRAF (V600E) mutation is frequently associated with pleomorphic xanthoastrocytomas (PXAs) and gangliogliomas (GGs). 26264609 2015
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.100 GeneticVariation BEFREE We document two rare cases of massively metastatic spinal cord GGs in adult patients who were negative for BRAF V600E mutations via multiple methods. 25015869 2014
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.100 GeneticVariation BEFREE In both GGs and DNTs, the presence of BRAF V600E mutation was significantly associated with the expression of CD34, phosphorylated ribosomal S6 protein (pS6; marker of mTOR pathway activation) in dysplastic neurons and synaptophysin (P < 0.05). 23941441 2014
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.100 GeneticVariation BEFREE VE1 immunostaining for BRAF(V600E) showed concordance with sequencing in nine of nine brainstem GGs including the two cases equivocal by Sanger. 24238153 2014
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.100 GeneticVariation BEFREE Five of 11 (45%) PF GGs and 6 of 9 (67%) ST GGs expressed the BRAF V600E mutation. 24792487 2014
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.100 GeneticVariation BEFREE BRAF V600E expression and distribution in desmoplastic infantile astrocytoma/ganglioglioma. 23822828 2014
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.100 GeneticVariation BEFREE Mutant BRAF V600E protein in ganglioglioma is predominantly expressed by neuronal tumor cells. 23435618 2013
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.100 GeneticVariation BEFREE In conclusion, DNT shared with PXA and GG, BRAF(V600E) mutation and/or CD34 expression, which represent molecular markers for these tumors, and we recommend searching for CD34 expression and BRAF(V600E) mutation in all DNT, especially the non-specific forms. 23442159 2013