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 Biomarker disease BEFREE Frequent gains at chromosome 7q34 involving BRAF in pilocytic astrocytoma. 18716556 2008
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 Biomarker disease BEFREE Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas. 18974108 2008
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 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 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
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 Biomarker disease BEFREE Thus, combined molecular analysis of BRAF and IDH1 is a sensitive and highly specific approach to separate pilocytic astrocytoma from diffuse astrocytoma. 19543740 2009
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 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 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 Recent studies of genetic abnormalities in pediatric low-grade gliomas (LGGs) have focused on activation of the ERK/MAPK pathway by KIAA1549-BRAF gene fusions in the majority of pilocytic astrocytomas (PAs) and by rare mutations in elements of the pathway across histopathologically diverse LGGs. 21046410 2010
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 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 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 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 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 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 Biomarker disease BEFREE Our in vivo model for PA shows that the activated BRAF kinase domain is sufficient to induce PA and highlights its role as a potential therapeutic target. 21403401 2011
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE For the first time, we report concomitant presence of a somatic BRAF(V600E) mutation in an NF1 patient indicating that more than one Ras/ERK pathway component can be affected in PA. 21190184 2011
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE We tested expression of established senescence markers in three independent cohorts of sporadic PA. We also assessed for OIS in vitro, using forced expression of wild-type and V600E-mutant BRAF in two astrocytic cell lines: human telomerase reverse transcriptase (hTERT)-immortalized astrocytes and fetal astrocytes. 21610151 2011
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE In addition, our study confirmed previously reported BRAF and RAF1 fusion variants in 72% (90/125) of PA. Mutations in BRAF (8/125), KRAS (2/125) and NF1 (4/125) and the rare RAF1 gene fusions (2/125) were mutually exclusive with BRAF rearrangements, with the exception of two cases in our series that concomitantly harbored more than one hit in the MAPK pathway. 21424530 2011
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 AlteredExpression disease BEFREE Further studies in larger RGNT case series are needed in order to demonstrate the possible presence of KIAA1549-BRAF fusion and better delineate its relationship with pilocytic astrocytomas. 21518014 2011
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.600 GeneticVariation disease BEFREE The high mutation frequencies in pleomorphic xanthoastrocytomas, gangliogliomas and extra-cerebellar pilocytic astrocytomas implicate BRAF (V600E) mutation as a valuable diagnostic marker for these rare tumor entities. 21274720 2011
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 Chromosomal 7q34 duplication and BRAF-KIAA1549 fusion is a characteristic genetic alteration in pilocytic astrocytomas. 22568401 2012