rs121913377, BRAF

N. diseases: 480
Disease: Anaplastic Pleomorphic Xanthoastrocytoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Anaplastic Pleomorphic Xanthoastrocytoma
CUI: C4283858
Disease: Anaplastic Pleomorphic Xanthoastrocytoma
0.050 GeneticVariation BEFREE In the present report we describe a BRAF V600E-mutated tumor with divergent morphological appearance comprising of anaplastic pleomorphic xanthoastrocytoma and astroblastoma. 30557911 2019
Anaplastic Pleomorphic Xanthoastrocytoma
CUI: C4283858
Disease: Anaplastic Pleomorphic Xanthoastrocytoma
0.050 GeneticVariation BEFREE The results suggested that testing for EZH2 expression and BRAF V600E mutations might be helpful to evaluate the prognoses of EGBM and APXA patients. 31214915 2019
Anaplastic Pleomorphic Xanthoastrocytoma
CUI: C4283858
Disease: Anaplastic Pleomorphic Xanthoastrocytoma
0.050 GeneticVariation BEFREE Recurrent copy number alterations in low-grade and anaplastic pleomorphic xanthoastrocytoma with and without BRAF V600E mutation. 28181325 2018
Anaplastic Pleomorphic Xanthoastrocytoma
CUI: C4283858
Disease: Anaplastic Pleomorphic Xanthoastrocytoma
0.050 GeneticVariation BEFREE The identification of BRAF V600E, TERT, and IDH2 mutations in PXA expands our molecular understanding of PXA. 30240866 2018
Anaplastic Pleomorphic Xanthoastrocytoma
CUI: C4283858
Disease: Anaplastic Pleomorphic Xanthoastrocytoma
0.050 GeneticVariation BEFREE Two of four MN1 intact cases by FISH showed genetic features of either anaplastic pleomorphic xanthoastrocytoma (BRAF p.V600E mutation, CDKN2A/B homozygous deletion and TERT promoter mutation) or IDH-wildtype glioblastoma (trisomy 7, monosomy 10, CDK4 amplification and TP53, NRAS and TERT promoter mutations) and these cases had an aggressive clinical course. 28960623 2018