IDH2, isocitrate dehydrogenase (NADP(+)) 2, 3418

N. diseases: 380; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.200 GeneticVariation group BEFREE We first demonstrated identical IDH mutations in the brain tumor samples from various locations in this patient, but different 1p,19q results by fluorescent in-situ hybridization, different whole genome copy number profiles by OncoScan analysis, and a discrepant IDH2M131I mutation unique to one tumor, supporting a multifocal disease process in the setting of somatic IDH mosaicism. 30159860 2018
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.200 Biomarker group BEFREE Exon 4 of IDH1 and IDH2 was analyzed in a series of brain tumors classified according to current WHO criteria. 29535392 2018
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.200 GeneticVariation group BEFREE We analyzed 26 brain tumor samples with known IDH1 or IDH2 mutation and compared readouts to those from 28 brain tumor samples of wildtype IDH status. 29499756 2018
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.200 GeneticVariation group BEFREE The aim of this study is to investigate in depth the prevalence of non-R132H IDH ("non-canonical") mutations in brain tumors classified according to the 2016 WHO scheme and their clonal distribution in neoplastic cells. 28748342 2017
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.200 GeneticVariation group BEFREE The new 2016 WHO brain tumor classification defines different diffuse gliomas primarily according to the presence or absence of IDH mutations ( IDH-mt) and combined 1p/19q loss. 28640702 2017
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.200 GeneticVariation group BEFREE Our findings indicate that CDKN2A/B risk genotypes are associated with primary glioblastoma without IDH mutation, and that there is an inverse association between RTEL1 risk genotypes and 1p/19q codeletion, suggesting that these genetic variants have a molecular impact on the genesis of high graded brain tumors. 26839018 2016
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.200 GeneticVariation group CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.200 Biomarker group BEFREE In this study, we address this need by presenting a proton magnetic resonance spectroscopy ((1)H-MRS) acquisition scheme that uses an ultrahigh magnetic field (≥ 7T) capable of noninvasively detecting 2-HG with quantitative measurements sufficient to differentiate mutant cytosolic IDH1 and mitochondrial IDH2 in human brain tumors. 26669865 2016
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.200 GeneticVariation group BEFREE Together, these findings (1) show that IDH mutation status is associated with a distinct angiogenesis transcriptome signature which is non-invasively predictable with rCBV imaging and (2) highlight the potential future of radiogenomics (i.e. the correlation between cancer imaging and genomic features) towards a more accurate diagnostic workup of brain tumors. 26538165 2015
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.200 AlteredExpression group BEFREE We used human glioma tissues and derived brain tumor stem cells (BTSCs) to study the expression of HIF1α target genes in IDH mutant ((mt)) and IDH wild-type ((wt)) tumors. 24366912 2014
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.200 Biomarker group BEFREE There is growing interest in identification of diagnostic, prognostic or predictive blood biomarkers in CNS tumor patients, and emerging studies indicate that certain brain tumors are indeed associated with distinct profiles of circulating factors such as proteins (e.g., glial fibrillary acidic protein), DNA fragments (e.g., containing mutated IDH) or miRNAs (e.g., miRNA-21). 23547822 2013
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.200 GeneticVariation group BEFREE IDH mutation screening is rapidly becoming part of the routine pathological work up of human brain tumors, providing both diagnostic and prognostic information. 23307057 2013
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.200 GeneticVariation group BEFREE Acquired somatic mutations of IDH1 and IDH2 have recently been reported in some types of brain tumors and a small proportion of acute myeloid leukemia (AML) cases. 22397365 2012
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.200 GeneticVariation group BEFREE Pyrosequencing of IDH1 and IDH2 mutations in brain tumors and non-neoplastic conditions. 23111198 2012
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.200 GeneticVariation group BEFREE IDH1 and IDH2, which catalyse the interconversion of isocitrate and 2-OG, are frequently mutated in human brain tumours and leukaemias. 22343896 2012
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.200 GeneticVariation group BEFREE To address this, we analyzed IDH1(R132) and IDH2(R172) mutation status 53 metastatic brain tumors, including nine melanoma metastases. 20603105 2010
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.200 GeneticVariation group BEFREE IDH1 and IDH2 mutations are prognostic but not predictive for outcome in anaplastic oligodendroglial tumors: a report of the European Organization for Research and Treatment of Cancer Brain Tumor Group. 20160062 2010