Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE Activating point mutations of BRAF, such as BRAF (V600E), also lead to pilocytic astrocytoma. 23439714 2013
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 Biomarker disease BEFREE In addition, the frequent oncogenic aberration of BRAF in pilocytic astrocytomas may serve as a novel diagnostic marker and therapeutic target. 20714900 2010
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 AlteredExpression disease BEFREE Nevertheless, the most important causative factors seem to be NF1 gene inactivation, in cases related to neurofibromatosis type 1, and BRAF gene overexpression in sporadic PAs, both resulting in MAPK/Erk pathway upregulation. 24554201 2014
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 Biomarker disease BEFREE Detection of the KIAA1549-BRAF fusion gene in cells forming microvascular proliferations in pilocytic astrocytoma. 31329636 2019
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE KIAA1549-BRAF is the most frequently identified genetic mutation in sporadic pilocytic astrocytoma (PA), creating a fusion BRAF (f-BRAF) protein with increased BRAF activity. 30504064 2019
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE More recently, cases of PA with gangliocytic differentiation (PA-GD) have been described, and these cases are thus far restricted to those with the KIAA1549-BRAF fusion. 31147230 2019
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 AlteredExpression disease BEFREE The review of imaging features indicated that cyst formation is associated with the existence of KIAA1549-BRAF fusion in PA and GG and the lack of BRAF mutation in GG. 31147232 2019
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 Biomarker disease BEFREE Induction of senescence by BRAF may help explain the low-grade pathobiology of pilocytic astrocytoma, whereas worse clinical outcomes associated with tumors lacking p16(INK4a) expression could reflect failure to induce senescence or an escape from oncogene-induced senescence. 21636552 2011
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 Biomarker disease BEFREE The latest discovery involving the tandem duplication and fusion BRAF-KIAA1549 on chromosome 7q34 in pilocytic astrocytoma has drawn attention to the MAPK-ERK pathway and its potential chemotherapeutic manipulation. 20919607 2010
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 Biomarker disease BEFREE In summary, we confirmed the high frequency of KIAA1549:BRAF fusion in PAs and its association with a better outcome. 26083571 2015
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE The data further support previous observations that these two alterations of the BRAF, KIAA1549 fusions and V600E point mutations, are associated primarily with pilocytic astrocytomas and nonpilocytic gliomas, respectively. 21884820 2011
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 Biomarker disease BEFREE BRAF fusion involving the KIAA1549 gene is a hallmark of pilocytic astrocytoma, but it has also been recorded in rare cases of gangliogliomas, 1p/19q co-deleted oligodendroglial tumors, and it is also a common feature of disseminated oligodendroglial-like leptomeningeal neoplasm. 29802359 2018
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE Gliomas in people with NF1 show alterations in the RAS/MAPK pathway, generally in the absence of BRAF alterations (common to sporadic pilocytic astrocytomas) or IDH or histone H3 mutations (common to diffuse gliomas subsets). 30963251 2020
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE BRAF mutations are most frequently detected in certain subtypes of low-grade glioma, such as pilocytic astrocytoma (PA), pleomorphic xanthoastrocytoma (PXA), ganglioglioma (GG) and dysembryoplastic neuroepithelial tumor (DNT). 27792249 2017
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE Among many molecular abnormalities, BRAF mutation and mTOR activation in pilocytic astrocytomas and subependymal giant cell astrocytomas are actionable targets sensitive to vemurafenib and everolimus, respectively. 26118895 2015
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE This article provides an overview of the most common molecular markers in neurooncology, including 1p/19q codeletion in oligodendroglial tumors, mutations in the isocitrate dehydrogenase 1 and 2 genes in diffuse gliomas, hypermethylation of the O(6)-methylguanine-DNA methyltransferase gene promoter in glioblastomas and anaplastic gliomas, alterations in the epidermal growth factor receptor and phosphatase and tensin homolog genes in high-grade gliomas, as well as BRAF alterations in pilocytic astrocytomas. 21526954 2011
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE In our study we evaluated 51 PAs for BRAF duplication and BRAF V600E point mutation. 25066317 2016
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 Biomarker disease BEFREE These findings were confirmed by immunohistochemistry for neuronal markers, as well as combined phospho-S6/ phospho-p70S6K immunoreactivity in 4 (of 4) LGSI vs. 5 (of 13) NF1-associated PA (p=0.02), and 13 (of 39) sporadic PA. Phospho-ERK immunoreactivity was uniformly present in PA and LGSI groups, while BRAF duplication was absent by FISH in 8 NF1-associated low grade astrocytomas. 21228927 2010
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 Biomarker disease BEFREE Oncogenic RAF1 rearrangement and a novel BRAF mutation as alternatives to KIAA1549:BRAF fusion in activating the MAPK pathway in pilocytic astrocytoma. 19363522 2009
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 Biomarker disease BEFREE The emergence of genomic arrays, including comparative genomic hybridization and SNP arrays, have helped in the discovery of novel critically important genes and novel genomic biomarkers involved in PCNST oncogenesis (e.g., BRAF duplication in pilocytic astrocytoma). 22468817 2012
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE Our results further emphasize the importance of BRAF alterations in PA and the need to characterize them in a given tumor as this can affect therapeutic strategies and their potential use as tumor marker in molecular diagnostics. 30575814 2019
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE We identified 1 of 3 previously identified BRAF rearrangements in 42/70 sporadic PAs. 19794125 2009
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE Adult with cerebellar anaplastic pilocytic astrocytoma associated with BRAF V600E mutation and p16 loss. 23196000 2013
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease 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
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 Biomarker disease BEFREE This review summarizes recent studies on diagnostic and prognostic markers in gliomas such as the BRAF fusion gene in pilocytic astrocytomas and 1p/19q codeletion, O-6-methylguanine-DNA methyltransferase status and isocitrate dehydrogenase 1 (IDH1)/IDH2 mutations in diffuse gliomas. 19667985 2009