Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Review of histology showed malignant PXA with BRAF V600E mutation. 31748891

2020

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE We find that PXAs are genetically defined by the combination of CDKN2A biallelic inactivation and RAF alterations that were present in all 19 cases, most commonly as CDKN2A homozygous deletion and BRAF p.V600E mutation but also occasionally BRAF or RAF1 fusions or other rearrangements. 30051528

2019

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE A BRAF V600E mutation and homozygous deletion of CDKN2A/B were observed, which is similar to the genetic features of PXA or epithelioid glioblastoma, but the additional loss of ATRX nuclear immunoreactivity and absence of TERT promoter mutation were unusual findings, indicating a novel genetic profile. 30972500

2019

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Genetic analysis to screen for MAPK/ERK pathway mutations is warranted on PXAs negative for the V600E mutation. 30517658

2019

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Additionally, a trial of a MEK inhibitor or tyrosine kinase inhibitor could be considered for PXA regardless of V600E mutation status. 30120661

2018

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE CDKN2A/B deletion was present in similar proportion of PXA (83%), A-PXA (93%), BRAF V600E (87%), and wild-type (87%) tumors. 28181325

2018

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Pleomorphic xanthoastrocytoma is a rare brain tumor with unique high frequency of BRAF V600E mutation which is plausible for targeted therapy. 29200156

2018

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE BRAF V600E, TERT, and IDH2 Mutations in Pleomorphic Xanthoastrocytoma: Observations from a Large Case-Series Study. 30240866

2018

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE The ability of the polio: rhinovirus recombinant, PVSRIPO, to infect PXA (645 [BRAF V600E mutation], 2363) and medulloblastoma (D283, D341) cells were determined by viral propagation measurement and cell proliferation. 29878245

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 To our knowledge only five cases of PXA with melanin pigment have been reported and none of which described BRAF V600E mutation analysis. 27645472

2017

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Specifically, both the initial and recurrent tumors of the patient showed the same BRAF V600E mutation, which refutes previous suggestions that BRAF mutations may be limited to intracranial PXAs and also shows that BRAF mutations may occur earlier in PXA tumorigenesis. 27956254

2017

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Xenotransplantation of pediatric low grade gliomas confirms the enrichment of <i>BRAF</i> V600E mutation and preservation of <i>CDKN2A</i> deletion in a novel orthotopic xenograft mouse model of progressive pleomorphic xanthoastrocytoma. 29152094

2017

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE On sequencing of the 2 components separately after microdissection, both showed identical IDH1 R132H and TP53 R273C point mutations, whereas the BRAF V600E mutation was limited to the PXA-like component. 26414224

2016

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE BRAF V600E mutations are found frequently in circumscribed low-grade gliomas such as pleomorphic xanthoastrocytoma (PXA) and extra-cerebellar pilocytic astrocytoma, or epithelioid glioblastomas (E-GBM), a rare variant of GBM. 26445861

2016

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Our data indicate, that in addition to the histological and immunohistochemical evaluation, investigation of MGMT promoter methylation and in particular BRAF V600E mutations represent reliable additional tools to sustain differentiation of gcGBM from PXA on a molecular basis. 27253461

2016

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE BRAF V600E mutation was present in four eGBMs and four ePXAs. 26238627

2016

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE The BRAF V600E mutation occurs frequently in certain brain tumors such as pleomorphic xanthoastrocytoma, ganglioglioma, and pilocytic astrocytoma, and less frequently in epithelioid and giant cell glioblastoma. 25885250

2015

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Prognostic significance of histological anaplasia and BRAF V600E mutation were retrospectively evaluated in 74 patients with pleomorphic xanthoastrocytoma (PXA). 25318587

2015

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE These findings suggest that epithelioid GBM may arise from a PXA with a BRAF V600E mutation. 24894018

2014

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Although this glioma was difficult to clarify, diagnosis of pleomorphic xanthoastrocytoma with anaplastic feature was suggested based on the association of some pathological feature (eosinophilic granular bodies, reticulin network and diffuse CD34 expression) and the BRAF V600E mutation. 24857351

2014

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Immunohistochemistry is highly sensitive and specific for detection of BRAF V600E mutation in pleomorphic xanthoastrocytoma. 24252190

2013

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE In this small retrospective series of select patients with recurrent PXA manifesting the BRAF V600E activating mutation, vemurafenib appears to have single agent activity with manageable toxicity. 23756728

2013

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE The finding that BRAF V600E mutations are common in the majority of PXA has important therapeutic implications and may help in differentiating less aggressive PXAs from lethal gcGBMs and GBMs. 21479234

2011