Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913535
rs121913535
G 0.700 CausalMutation CLINVAR

dbSNP: rs142441643
rs142441643
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555534667
rs1555534667
NF1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1567813248
rs1567813248
A 0.700 GeneticVariation CLINVAR

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE No significant differences regarding additional imaging features emerged between BRAF V600E-mutant and wild-type lesions, with the exception of the number of tumors with cystic components, significantly higher in BRAF V600E-mutant PAs (p = 0.011) CONCLUSION: Assessment of the DWI characteristics of GGs and PAs may assist in predicting BRAF V600E status, suggesting a radiogenomic correlation and prompt molecular characterization of these tumors. 31667545

2020

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE No significant differences regarding additional imaging features emerged between BRAF V600E-mutant and wild-type lesions, with the exception of the number of tumors with cystic components, significantly higher in BRAF V600E-mutant PAs (p = 0.011) CONCLUSION: Assessment of the DWI characteristics of GGs and PAs may assist in predicting BRAF V600E status, suggesting a radiogenomic correlation and prompt molecular characterization of these tumors. 31667545

2020

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Stratum 1 comprised patients with WHO grade I pilocytic astrocytoma harbouring either one of the two most common BRAF aberrations (KIAA1549-BRAF fusion or the BRAF<sup>V600E</sup> [Val600Glu] mutation). 31151904

2019

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Both p.V600E mutation and KIAA1549-BRAF fusion have been described in pilocytic astrocytoma (PA) and GG, but they differ with regards to the rates of different BRAF alterations, and careful histological examination is an important component of patho-molecular correlations. 31147230

2019

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Both p.V600E mutation and KIAA1549-BRAF fusion have been described in pilocytic astrocytoma (PA) and GG, but they differ with regards to the rates of different BRAF alterations, and careful histological examination is an important component of patho-molecular correlations. 31147230

2019

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Stratum 1 comprised patients with WHO grade I pilocytic astrocytoma harbouring either one of the two most common BRAF aberrations (KIAA1549-BRAF fusion or the BRAF<sup>V600E</sup> [Val600Glu] mutation). 31151904

2019

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF-V600E mutations are most commonly found in pleomorphic xanthoastrocytoma, ganglioglioma, epithelioid glioblastoma, and gliomas diagnosed at a younger age; BRAF-KIAA1549 fusion is the most common BRAF alteration in pilocytic astrocytoma. 30265855

2018

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE These tumors expressed GFAP (5/6), OLIG2 (2/3), and S100 (1/1), and the pilocytic astrocytoma was negative for BRAF (V600E) mutant protein. 30074494

2018

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE BRAF-V600E mutations are most commonly found in pleomorphic xanthoastrocytoma, ganglioglioma, epithelioid glioblastoma, and gliomas diagnosed at a younger age; BRAF-KIAA1549 fusion is the most common BRAF alteration in pilocytic astrocytoma. 30265855

2018

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE These tumors expressed GFAP (5/6), OLIG2 (2/3), and S100 (1/1), and the pilocytic astrocytoma was negative for BRAF (V600E) mutant protein. 30074494

2018

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Histologically, V600E-carrying PA appeared more infiltrative, yet our limited clinical follow-up failed to detect a deleterious prognostic significance. 25066317

2016

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Histologically, V600E-carrying PA appeared more infiltrative, yet our limited clinical follow-up failed to detect a deleterious prognostic significance. 25066317

2016

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Aneuploid genomes were identified in 45% of adult compared with 17% of pediatric PA. Gains were non-random, favoring chromosomes 5, 7, 6 and 11 in order of frequency, and preferentially affecting non-cerebellar PA and tumors with BRAF V600E mutations and not with KIAA1549-BRAF fusions or FGFR1 mutations. 26378811

2015

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Aneuploid genomes were identified in 45% of adult compared with 17% of pediatric PA. Gains were non-random, favoring chromosomes 5, 7, 6 and 11 in order of frequency, and preferentially affecting non-cerebellar PA and tumors with BRAF V600E mutations and not with KIAA1549-BRAF fusions or FGFR1 mutations. 26378811

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE This study identified the expression of KIAA1549-BRAF fusion gene and BRAF V600E mutation, mutations at exon 4 of the IDH1 and IDH2 genes in samples of pilocytic astrocytomas (PA) and grade-II astrocytomas (A-II) pediatric patients. 24532263

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE B-K fusion in adult PA does not influence outcome, and BRAF V600E mutation appears to be a very rare event. 24470550

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF(V600E) was also seen in five of 11 (45%) non-brainstem GGs and one of eight (13%) brainstem PAs. 24238153

2014

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE B-K fusion in adult PA does not influence outcome, and BRAF V600E mutation appears to be a very rare event. 24470550

2014

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE This study identified the expression of KIAA1549-BRAF fusion gene and BRAF V600E mutation, mutations at exon 4 of the IDH1 and IDH2 genes in samples of pilocytic astrocytomas (PA) and grade-II astrocytomas (A-II) pediatric patients. 24532263

2014

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE BRAF(V600E) was also seen in five of 11 (45%) non-brainstem GGs and one of eight (13%) brainstem PAs. 24238153

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE These results suggest that (a) BRAF-KIAA1549 fusion may be common in PAs with atypical clinicoradiologic and histologic features, including those at extracerebellar sites, (b) BRAF V600E mutation is uncommon in extracerebellar PAs, and (c) TP53 mutation analysis remains a valuable tool in identifying childhood gliomas that will likely behave in a malignant fashion. 24057326

2013