Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 CausalMutation disease CGI
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 AlteredExpression disease BEFREE Pilocytic astrocytomas: BRAFV600E and BRAF fusion expression patterns in pediatric and adult age groups. 31321520 2019
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 Biomarker disease BEFREE Pilocytic astrocytomas are grade 1 tumors usually occurring in children and young adults with KIAA1549-BRAF fusion defining the majority of pilocytic astrocytomas. 31355086 2019
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE Pilocytic astrocytoma (PA), the most common childhood brain tumor, is a low-grade glioma with a single driver BRAF rearrangement. 31427603 2019
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE BRAF mutations are new markers found in pilocytic astrocytomas. 23278177 2013
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE BRAF(V600E) mutation was detected in PXA (60%), GG (38.7%), DNT (30%, including 3/11 specific and 3/9 non-specific forms) and PA (12.5%). 23442159 2013
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE BRAF(V600E) was also seen in five of 11 (45%) non-brainstem GGs and one of eight (13%) brainstem PAs. 24238153 2014
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 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 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 A BRAF V600E mutation was detected in 1 PA, "diffuse variant" case; an IDH1 R132G mutation was found in 1 DA case. 22710963 2012
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 Biomarker disease BEFREE A Multiplex Quantitative Reverse Transcription Polymerase Chain Reaction Assay for the Detection of KIAA1549-BRAF Fusion Transcripts in Formalin-Fixed Paraffin-Embedded Pilocytic Astrocytomas. 31087282 2019
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE A single BRAF V600E mutation was identified in the fusion-negative extracerebellar PA of a very young child who succumbed to the disease. 24057326 2013
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 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 Activation of the MAP Kinase (MAPK) pathway caused by the BRAFV600E mutation or the KIAA1549-BRAF fusion has been reported in pediatric GG and PA, respectively. 25524464 2014
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 Although oncogenic rearrangements of the BRAF gene have recently been described in PAs, it is not clear whether such alterations have an impact on outcome. 20044755 2010
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 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
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 Biomarker disease BEFREE At a median follow-up of 55 months, the 5-year progression-free survival (PFS) rate for BRAF (V600)-mutant diencephalic low-grade astrocytomas (LGAs) was 22 ± 12 %, shorter than BRAF (V600)-WT PAs (52 ± 13 %) but higher than PMAs (10 ± 6 %). 26264609 2015
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE B-K fusion in adult PA does not influence outcome, and BRAF V600E mutation appears to be a very rare event. 24470550 2014
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
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 Chromosome band 7q34 deletions, which resulted in a FAM131B-BRAF fusion, were identified in one pilocytic astrocytoma (PA) and one dysembryoplastic neuroepithelial tumor (DNT). 24767714 2014