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: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 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
0.500 GeneticVariation group BEFREE Mutations in the isocitrate dehydrogenase 1 (IDH1) gene have been identified in a number of cancer types, including brain cancer. 29849122 2018
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE We show that compound 5 exhibits good brain exposure and potent 2-HG inhibition in a HT1080-derived mouse xenograft model, which makes it a potential preclinical candidate to treat IDH1-mutant brain tumors. 31561044 2019
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 Biomarker group BEFREE Isocitrate Dehydrogenase-1 (<i>IDH1)</i> is a driver gene in several cancers including brain tumors such as low-grade and high-grade gliomas. 29971034 2018
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 Biomarker group BEFREE Heterozygous mutations in the gene encoding isocitrate dehydrogenase-1 (IDH1) occur in certain human brain tumors, but their mechanistic role in tumor development is unknown. 19359588 2009
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 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
0.500 GeneticVariation group BEFREE Metrics used for this range from quantification of single oncometabolites (such as 2-hydroxyglutarate in mutant IDH1 glial brain tumours) to selected metabolite ratios (such as total choline to N-acetylaspartate (plain ratio or CNI index)) or the whole <sup>1</sup> H MRSI(I) pattern through pattern recognition analysis. 30633389 2019
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Cytosolic isocitrate dehydrogenase 1 (IDH1) with an R132H mutation in brain tumors loses its enzymatic activity for catalyzing isocitrate to α-ketoglutarate (α-KG) and acquires new activity whereby it converts α-KG to 2-hydroxyglutarate. 24077277 2013
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Increased overall survival for patients with glioma brain tumours is associated with mutations in the metabolic regulator isocitrate dehydrogenase 1 (IDH1). 27820599 2016
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 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
0.500 GeneticVariation group 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: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE We investigated IDH1 mutations in a series of 134 brain tumors to determine the prevalence and prognostic impact of IDH1 mutations. 22922798 2012
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Other than brain tumor or hematologic malignancies, intrahepatic cholangiocarcinoma (iCC) is a well-known solid tumor with IDH1 mutation (6.8-20%). 28403884 2017
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE The IDH1-R132H mutation predicts a better clinical outcome for glioma patients, and the expression of IDH1-R132H correlates with a favorable outcome in patients with brain tumors. 27655638 2016
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 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
0.500 GeneticVariation group BEFREE Genetic alterations of IDH1 and Vegf in brain tumors. 28948065 2017
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 Biomarker group BEFREE We also used targeted genotyping to examine the role of tumor-related genes in brain tumor development and specifically examined the clinical consequences of MAE at TP53 and IDH1. 22144470 2012
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 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
0.500 GeneticVariation group BEFREE We assessed IDH1 mutations in brain tumors diagnosed in patients from three families with Li-Fraumeni syndrome. 19340432 2009
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 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
0.500 Biomarker group BEFREE Recently, aberrant methylation of MLH1, MGMT and MSI were shown to be associated with mutations in genes such as BRAF, RAS and IDH1 in colon and brain tumours. 23414134 2013
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE The intraoperative assessment of IDH1 mutation is useful in brain tumor surgeries. 26695622 2016
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Mutant IDH1 Disrupts the Mouse Subventricular Zone and Alters Brain Tumor Progression. 28148827 2017
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 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
0.500 GeneticVariation group BEFREE We show that a conformation-specific Fab can reactivate an IDH1 mutant associated with brain tumors. 28373671 2017