Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555535032
rs1555535032
NF1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs727502902
rs727502902
BRAF
TGTA 0.700 CausalMutation CLINVAR

dbSNP: rs113488022
rs113488022
BRAF
0.100 GeneticVariation BEFREE The high mutation frequencies in pleomorphic xanthoastrocytomas, gangliogliomas and extra-cerebellar pilocytic astrocytomas implicate BRAF (V600E) mutation as a valuable diagnostic marker for these rare tumor entities. 21274720

2011
dbSNP: rs113488022
rs113488022
BRAF
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
dbSNP: rs121913377
rs121913377
BRAF
0.100 GeneticVariation BEFREE The high mutation frequencies in pleomorphic xanthoastrocytomas, gangliogliomas and extra-cerebellar pilocytic astrocytomas implicate BRAF (V600E) mutation as a valuable diagnostic marker for these rare tumor entities. 21274720

2011
dbSNP: rs121913377
rs121913377
BRAF
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
dbSNP: rs113488022
rs113488022
BRAF
0.100 GeneticVariation BEFREE Mutant BRAF V600E protein in ganglioglioma is predominantly expressed by neuronal tumor cells. 23435618

2013
dbSNP: rs113488022
rs113488022
BRAF
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
dbSNP: rs113488022
rs113488022
BRAF
0.100 GeneticVariation BEFREE BRAF V600E mutation has been identified in up to 2/3 of pleomorphic xanthoastrocytomas (PXAs), World Health Organization grade II, as well as in varying percentages of PXAs with anaplastic features (PXA-A), gangliogliomas, extracerebellar pilocytic astrocytomas, and, rarely, giant cell glioblastoma multiforme (GC-GBMs). 23552385

2013
dbSNP: rs121913377
rs121913377
BRAF
0.100 GeneticVariation BEFREE Mutant BRAF V600E protein in ganglioglioma is predominantly expressed by neuronal tumor cells. 23435618

2013
dbSNP: rs121913377
rs121913377
BRAF
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
dbSNP: rs121913377
rs121913377
BRAF
0.100 GeneticVariation BEFREE BRAF V600E mutation has been identified in up to 2/3 of pleomorphic xanthoastrocytomas (PXAs), World Health Organization grade II, as well as in varying percentages of PXAs with anaplastic features (PXA-A), gangliogliomas, extracerebellar pilocytic astrocytomas, and, rarely, giant cell glioblastoma multiforme (GC-GBMs). 23552385

2013
dbSNP: rs113488022
rs113488022
BRAF
0.100 GeneticVariation BEFREE Five of 11 (45%) PF GGs and 6 of 9 (67%) ST GGs expressed the BRAF V600E mutation. 24792487

2014
dbSNP: rs113488022
rs113488022
BRAF
0.100 GeneticVariation BEFREE BRAF V600E expression and distribution in desmoplastic infantile astrocytoma/ganglioglioma. 23822828

2014
dbSNP: rs113488022
rs113488022
BRAF
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
dbSNP: rs113488022
rs113488022
BRAF
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
dbSNP: rs113488022
rs113488022
BRAF
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
dbSNP: rs121913377
rs121913377
BRAF
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
dbSNP: rs121913377
rs121913377
BRAF
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
dbSNP: rs121913377
rs121913377
BRAF
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
dbSNP: rs121913377
rs121913377
BRAF
0.100 GeneticVariation BEFREE Five of 11 (45%) PF GGs and 6 of 9 (67%) ST GGs expressed the BRAF V600E mutation. 24792487

2014
dbSNP: rs121913377
rs121913377
BRAF
0.100 GeneticVariation BEFREE BRAF V600E expression and distribution in desmoplastic infantile astrocytoma/ganglioglioma. 23822828

2014
dbSNP: rs113488022
rs113488022
BRAF
0.100 GeneticVariation BEFREE Among brain tumors, the BRAF (V600E) mutation is frequently associated with pleomorphic xanthoastrocytomas (PXAs) and gangliogliomas (GGs). 26264609

2015
dbSNP: rs113488022
rs113488022
BRAF
0.100 GeneticVariation BEFREE BRAF V600E mutation in neocortical posterior temporal epileptogenic gangliogliomas. 25937573

2015
dbSNP: rs121913377
rs121913377
BRAF
0.100 GeneticVariation BEFREE BRAF V600E mutation in neocortical posterior temporal epileptogenic gangliogliomas. 25937573

2015