KIAA1549, KIAA1549, 57670

N. diseases: 64; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma
0.100 Biomarker disease BEFREE Detection of the KIAA1549-BRAF fusion gene in cells forming microvascular proliferations in pilocytic astrocytoma. 31329636 2019
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma
0.100 Biomarker 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: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma
0.100 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: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma
0.100 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: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma
0.100 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: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma
0.100 Biomarker disease BEFREE However, KIAA1549-BRAF fusion gene was identified by fluorescence in situ hybridization (FISH), supporting for the diagnosis of PA. 29768357 2018
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma
0.100 GeneticVariation 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: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma
0.100 GeneticVariation disease BEFREE KIAA1549-BRAF fusion is the most common genetic event in pilocytic astrocytoma (PA), and leads to activation of the mitogen activated protein kinase (MAPK) signaling pathway. 29141672 2017
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma
0.100 AlteredExpression disease BEFREE Taken together, we have established the first patient-derived long term expandable PA cell line expressing the KIAA1549:BRAF-fusion suitable for preclinical drug testing. 28002790 2017
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma
0.100 AlteredExpression disease BEFREE A recurrent feature of PA is deregulation of the mitogen activated protein kinase (MAPK) pathway most often through KIAA1549-BRAF fusion, but also by other BRAF- or RAF1-gene fusions and point mutations (e.g.BRAFV600E). 28448514 2017
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma
0.100 GeneticVariation disease BEFREE Case 1 was likely a pilocytic astrocytoma (PA) with three deletions in 7q33q34 and an exon 15-9 KIAA1549-BRAF fusion. 25040262 2015
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma
0.100 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: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma
0.100 Biomarker disease BEFREE The KIAA1549:BRAF fusion gene is considered a driver genetic event in pilocytic astrocytoma. 25382612 2015
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma
0.100 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: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma
0.100 AlteredExpression disease BEFREE The unique predilection of these tumors to form within the optic pathway and brainstem (NF1-PA) and cerebellum (sporadic PA) raises the possibility that gliomagenesis requires more than biallelic inactivation of the NF1 tumor suppressor gene or expression of the KIAA1549:BRAF transcript. 23624918 2014
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma
0.100 Biomarker disease BEFREE Our study supports the notion that BRAF duplication is more typical of posterior fossa pilocytic astrocytoma and that molecular alterations other than KIAA1549 fusion may underlie MAPK pathway activation in pilocytic astrocytoma of the optic nerve. 23702730 2013
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma
0.100 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: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma
0.100 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: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma
0.100 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