rs121913377, BRAF

N. diseases: 480
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Childhood Ganglioglioma
CUI: C1332969
Disease: Childhood Ganglioglioma
0.100 GeneticVariation BEFREE Role of diffusion weighted imaging for differentiating cerebral pilocytic astrocytoma and ganglioglioma BRAF V600E-mutant from wild type. 31667545 2020
Childhood Ganglioglioma
CUI: C1332969
Disease: Childhood 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
Childhood Ganglioglioma
CUI: C1332969
Disease: Childhood 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
Childhood Ganglioglioma
CUI: C1332969
Disease: Childhood 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
Childhood Ganglioglioma
CUI: C1332969
Disease: Childhood 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
Childhood Ganglioglioma
CUI: C1332969
Disease: Childhood Ganglioglioma
0.100 GeneticVariation BEFREE Desmoplastic infantile astrocytoma/ganglioglioma with rare BRAF V600D mutation. 27860162 2017
Childhood Ganglioglioma
CUI: C1332969
Disease: Childhood Ganglioglioma
0.100 GeneticVariation BEFREE Combined pleomorphic xanthoastrocytoma-ganglioglioma with BRAF V600E mutation: case report. 27015517 2016
Childhood Ganglioglioma
CUI: C1332969
Disease: Childhood 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
Childhood Ganglioglioma
CUI: C1332969
Disease: Childhood 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
Childhood Ganglioglioma
CUI: C1332969
Disease: Childhood 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
Childhood Ganglioglioma
CUI: C1332969
Disease: Childhood Ganglioglioma
0.100 GeneticVariation BEFREE BRAF V600E expression and distribution in desmoplastic infantile astrocytoma/ganglioglioma. 23822828 2014
Childhood Ganglioglioma
CUI: C1332969
Disease: Childhood Ganglioglioma
0.100 GeneticVariation BEFREE Mutant BRAF V600E protein in ganglioglioma is predominantly expressed by neuronal tumor cells. 23435618 2013
Childhood Ganglioglioma
CUI: C1332969
Disease: Childhood Ganglioglioma
0.100 GeneticVariation BEFREE BRAF V600E mutation, a genetic abnormality seen in a significant percentage of pleomorphic xanthoastrocytomas and GGs, was assessed by polymerase chain reaction and identified in the tumor. 22082607 2011