IDH1, isocitrate dehydrogenase (NADP(+)) 1, 3417

N. diseases: 399; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Glioblastoma with PNET-like components has a higher frequency of isocitrate dehydrogenase 1 (IDH1) mutation and likely a better prognosis than primary glioblastoma. 22076165 2011
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Independent analysis of the publically available TCGA glioblastoma dataset confirmed our strong association between cMYC and mutant IDH1 expression. 23934175 2013
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Multivariate analysis revealed age, Karnofsky performance score, extent of tumor resection, first-line treatment, year of diagnosis, and MGMT promoter methylation status were associated with survival in patients with IDH1(R132H) -nonmutant glioblastoma. 27088883 2016
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE We sought to confirm this impression by analyzing vessels in glioblastoma previously examined using chromogenic in situ hybridization (CISH) for EGFR and immunohistochemistry for mutant IDH1. 22298889 2012
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Morphologic patterns of noncontrast-enhancing tumor in glioblastoma correlate with IDH1 mutation status and patient survival. 28988652 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE The Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy (cIMPACT-NOW) has recommended that isocitrate dehydrogenase 1 and 2 wildtype (IDH1/2wt) diffuse lower-grade gliomas (LGGs) WHO grade II or III that present with a) a telomerase reverse transcriptase promoter mutation (pTERTmt), and/or b) gain of chromosome 7 combined with loss of chromosome 10, and/or c) epidermal growth factor receptor (EGFR) amplification should be reclassified as diffuse astrocytic glioma, IDH1/2-wildtype, with molecular features of glioblastoma, WHO grade IV (IDH1/2wt astrocytomas WHO IV). 31637414 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Furthermore, given that the effect of mutant IDH1 was not recapitulated in glioblastoma cells, the enhancement of JQ1 sensitivity by IDH1 mutation seems to be specific for ICC cells. 30156013 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Overexpression of IDH1(R132H) and IDH2(R172K) mutant protein in glioblastoma cells resulted in increased radiation sensitivity and altered ROS metabolism and suppression of growth and migration in vitro. 23115158 2013
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE No significant difference was observed in the frequency of amplification of these genes in primary and secondary glioblastomas or in glioblastomas with and without IDH1 mutations, suggesting that amplification of PDGFRA, KIT and KDR may be implicated in the pathogenesis of a small fraction of both subtypes of glioblastoma. 21382095 2011
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Expression of R132H mutational IDH1 in human U87 glioblastoma cells affects the SREBP1a pathway and induces cellular proliferation. 23011765 2013
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE We initially screened 86 unselected high-grade astrocytomas, followed by 174 IDH1-R132H1 immunonegative glioblastomas derived from patients aged 60 years and older enrolled in the Nordic phase III trial of elderly patients with newly diagnosed glioblastoma. 27626492 2016
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Complete 1p/19q co-deletion, MGMT promoter methylation and/or IDH1 mutation generally signified a better prognosis for patients with a diffuse glioma including glioblastoma. 23429602 2013
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Following the publication of a landmark genetic sequencing study in 2008, which identified IDH1 as a frequently mutated gene in glioblastoma, much work has been carried out to further characterize the frequency, associations and clinical implications of IDH1/2 mutations. 21955197 2011
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE The association of a SNP known to confer risk for IDH1/2 mutant glioma and higher prevalence of IDH1/2 mutation within younger individuals 18-53 suggests that more younger individuals may present initially with 'secondary glioblastoma.' 30152087 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE IDH1/2 mutations are the most significant predictor of favorable outcome of glioblastoma patients. 21442241 2011
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Doomed from the TERT? A Two-Stage Model of Tumorigenesis in IDH-Wild-Type Glioblastoma. 30991024 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE We investigated the prognostic significance of O6-methylguanine-DNA methyltransferase (MGMT) promoter methylation and TP53 mutation status dependent on isocitrate dehydrogenase 1 (IDH1) mutation in glioblastoma patients. 25605197 2014
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Biopsy resulted in a diagnosis of glioblastoma with methylated MGMT promoter and wild-type IDH1. 24473978 2014
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Patients with IDH1/2 wild-type gliomas and glioblastoma-like genomic alterations, including gain on chromosome arm 7q (+7q), loss on chromosome arm 10q (-10q), TERT promoter mutation and oncogene amplification, displayed the worst outcome. 25783747 2015
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE IDH1 mutation may not be prognostically favorable in glioblastoma when controlled for tumor location: A case-control study. 27522495 2016
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE The metabolic genes isocitrate dehydrogenase 1 (IDH1) and IDH2 are commonly mutated in low-grade glioma and in a subset of glioblastoma. 28980701 2017
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Mean CBF1 expression is significantly increased in isocitrate dehydrogenase 1 (IDH1) R132H mutant glioblastoma and serves as prognostic marker for prolonged overall survival in brain tumours, particularly after therapy with temozolomide. 28571041 2017
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE • Significant correlation exists between radiological parameters such as volumetric and ADC values and major genomic profiles such as IDH mutation and ATRX loss status • Radiological parameters such as the ADC value were feasible predictors of glioblastoma patients' prognosis • Imaging features can predict major genomic profiles of the tumours and the prognosis of glioblastoma patients. 29721688 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Isocitrate dehydrogenase 1 (IDH1) mutation-specific microRNA signature predicts favorable prognosis in glioblastoma patients with IDH1 wild type. 23988086 2013
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE A novel molecular recursive partitioning analysis classification has recently been reported integrating the MGMT promoter methylation (MGMTmeth) and IDH1 mutation (IDH1mut) status for glioblastoma (GBM-molRPA) patients treated with temozolomide-based chemoradiation. 30236994 2018