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: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease BEFREE Mutations of both the IDH1 and IDH2 (isocitratedehydrogenase enzyme 1 and 2) genes have recently been described in cases of human glioma. 20847279 2010
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE 1p/19q codeletion and IDH1 mutations are also useful to support and extend the histological classification of gliomas since they are strongly linked to oligodendroglial morphology and grade II/III gliomas, as opposed to glioblastoma, respectively. 20862485 2010
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE When compared with de novo GBMs and controls, this latter group was characterized by a very high frequency of IDH1 mutations and by a hypermethylated profile similar to the recently described glioma CpG island methylator phenotype. 20926426 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Absence of IDH mutation identifies a novel radiologic and molecular subtype of WHO grade II gliomas with dismal prognosis. 21080178 2010
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE We sequenced the isocitrate dehydrogenase 1 gene (IDH1) at codon 132 in 382 patients with anaplastic astrocytoma and glioblastoma from the NOA-04 trial and from a prospective translational cohort study of the German Glioma Network. 21088844 2010
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE In contrast, BRAF fusion and IDH1 mutation analyses promise to be very helpful for classifying and grading gliomas, while their potential predictive value has yet to be established. 21129061 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Although much is known about molecular and chromosomal characteristics that distinguish glioma histological subtypes, DNA methylation patterns of gliomas and their association with other tumor features such as mutation of isocitrate dehydrogenase (IDH) genes have only recently begun to be investigated. 21163902 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE INA was expressed by 43% of gliomas with IDH1 mutation (n=197) versus 12% of gliomas without IDH1 mutation (n=156) (p<0.0001). 21194923 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Isocitrate dehydrogenase 1 (IDH1) mutations are common in grade II-III diffuse gliomas and secondary glioblastomas. 21213123 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE NAAG also was significantly lower in human glioma tissues containing IDH mutations than in gliomas without such mutations. 21289278 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease BEFREE The mechanistic consequences of this mutation have not yet been fully clarified, with conflicting opinions existing in the literature; however, IDH-1 mutation may be used as a surrogate marker to distinguish between primary and secondary glioblastoma multiforme (sGBM) from malignant progression of a lower grade glioma. 21301070 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease BEFREE Recent work has identified novel point mutations in isocitrate dehydrogenase 1 (IDH1) in the majority of the World Health Organization grades II and III infiltrative gliomas and secondary grade IV glioblastomas. 21314850 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE In contrast to this, all of these mutants confer 10- to 100-fold higher 2HG production to cells, and glioma tissues containing IDH1 R132 or IDH2 R172 mutations contain high levels of 2HG compared to glioma tissues without IDH mutations (54.4 vs. 0.1 mg 2HG/g protein). 21326614 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Isocitrate dehydrogenase 1 (IDH1) mutations, which are early and frequent genetic alterations in gliomas, are specific to a single codon in the conserved and functionally important Arginine 132 (R132) in IDH1. 21352804 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease BEFREE Expression of most NADPH-producing dehydrogenase genes was not elevated in 34 cancer data sets except for IDH1 in glioma and thyroid cancer, indicating an association with the IDH1 mutation. 21527585 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Currently, three molecular markers, related to better outcome, are particularly useful and complement the histological classification: the 1p/19q codeletion strongly predicts prolonged response to treatment and prolonged survival in oligodendroglial tumors; the O(6)-methylguanine-DNA methyltransferase promoter methylation, which is hypothesized to render the cell more vulnerable to alkylants, is associated with a stronger benefit of concomitant chemoradiotherapy in glioblastomas; mutations of the IDH1 (more rarely IDH2) gene affects 40% of gliomas (but 100% of the 1p/19q codeleted gliomas) and is inversely correlated to grade. 21554053 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE We sequenced IDH1 at codon 132 and IDH2 at codon 172 in 33 patients with WHO grade II and III gliomas who benefited from a preoperative (18)F-FDG positron emission tomography (PET). 21643985 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Miscoding mutations and promoter methylation of the TET2 gene were screened for in 29 low-grade diffuse gliomas lacking IDH1/2 mutations. 21690245 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Detection of IDH1 mutations and the status of MGMT promoter on intraoperative fresh tissue section from frameless neuronavigation needle biopsy. Analysis on 17 patients with brain glial tumor ineligible for craniotomy and tumor resection. 21781445 2013
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Here, we demonstrated that (1) IDH1/2 mutation is closely correlated with MGMT promoter methylation and 1p/19q codeletion in LGGs, (2) LINE-1 methylation levels in primary and secondary GBMs are lower than those in LGGs and normal brain tissues, (3) LINE-1 methylation is proportional to MGMT promoter methylation in gliomas, and (4) higher LINE-1 methylation is a favorable prognostic factor in primary GBMs, even compared to MGMT promoter methylation. 21829728 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Metabolism of glioma and IDH1/IDH2 mutations. 21885076 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE In contrast to the strong accumulation of 2HG in the serum of patients with IDH1/2 mutated acute myeloid leukaemia, no accumulation was observed in this series of IDH1/2 mutated gliomas. 21913188 2012
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Mutations in IDH genes are thought to occur early in tumorigenesis and define a subgroup of glioma that are characterized by specific metabolic changes and improved prognosis. 21955197 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE To address this, we investigated molecular and prognostic features of grade III glioma with and without IDH1/2 mutation. 21971842 2012
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Here we report on three additional 2HG-producing IDH1 mutations: IDH1 R100, which is affected in adult glioma, IDH1 G97, which is mutated in colon cancer cell lines and pediatric glioblastoma, and IDH1 Y139. 21996744 2012