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 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 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 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 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 GeneticVariation disease BEFREE The frequency of BRAF-KIAA1549 fusion transcripts is significantly lower in adult patients with pilocytic astrocytoma, weakening the sensitivity of this specific diagnostic marker in that age group. 21696415 2011
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE Our study shows that cellular polymorphism in PAs and gangliogliomas does not affect the results of molecular analysis investigating the status of the KIAA1549-BRAF fusion gene. 27389560 2016
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE Chromosomal 7q34 duplication and BRAF-KIAA1549 fusion is a characteristic genetic alteration in pilocytic astrocytomas. 22568401 2012
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE The most frequent genetic alteration identified in pediatric pilocytic astrocytomas and pilomyxoid variant is the KIAA1549-BRAF fusion, which typically results from a 2.0 Mb tandem duplication in chromosome band 7q34. 26945035 2016
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE The mitogen-activating protein kinase (MAPK) pathway and, more specifically, BRAF mutations have been shown to be prevalent in pediatric pilocytic astrocytomas and may represent one such area to target. 28009226 2017
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE Abnormalities in proto-oncogene B-Raf (BRAF) are typical in several subgroups of gliomas, including pilocytic astrocytomas, optic nerve gliomas, pleomorphic xanthoastrocytomas (PXA), anaplastic PXAs and gangliogliomas. 30013630 2018
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease 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
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE We report actionable targets, including frequent FGFR1 mutation in optic-pathway PA that makes them excellent candidates to anti-FGFR therapies, and BRAF non-canonical mutations in PA. 31673897 2019
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE Pediatric LGG show alterations in FGFR1 and BRAF in pilocytic astrocytomas and FGFR1 alterations in diffuse astrocytomas, each converging on the mitogen-activated protein kinase signaling pathway. 25664944 2015
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE Using a combined analysis of RNA sequencing and copy number variation data we identified a new BRAF fusion involving the 5' gene fusion partner GTF2I (7q11.23), not previously described in PA. 28448514 2017
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE Different fusion variants involving BRAF and KIAA1549 were demonstrated, present in 80% of pilocytic astrocytomas in children. 20976706 2010
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE Besides, more benign brain tumors such as ganglioglioma, dysembryoblastic neuroepithelial tumours and supratentorial pilocytic astrocytomas, only pleomorphic xanthoastrocytomas (50-78%) and epitheloid glioblastoma (50%) regularly exhibit BRAF mutations. 29039591 2017