rs121913500, IDH1

N. diseases: 96
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.800 GeneticVariation 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
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE Interestingly, non-p.R132H mutations segregate in distinct histological and molecular subtypes of glioma. 20077503 2010
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation UNIPROT
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.800 GeneticVariation BEFREE R132H mutation of isocitrate dehydrogenase 1 (IDH1) is found in ~75% of low-grade gliomas and secondary glioblastomas as well as in several other types of cancer. 29792149 2018
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE IDH1-R132H acts as a tumor suppressor in glioma via epigenetic up-regulation of the DNA damage response. 30760578 2019
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE <i>IDH1</i> mutations only affected brainstem gliomas (6/24 vs 0/78; <i>p</i> = 7.5 × 10<sup>-5</sup>), were mostly non-R132H (contrasting with hemispheric gliomas, <i>p</i> = 0.0001), and were associated with longer survival (54 vs 12 months). 29728520 2018
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.800 GeneticVariation BEFREE We found that both low-grade and high-grade (i.e., GBM) IDH1 R132H gliomas exhibit low Fn14 mRNA and protein levels compared to IDH1 WT gliomas. 29453678 2018
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE IDH1(R132H) mutation increases U87 glioma cell sensitivity to radiation therapy in hypoxia. 24895549 2014
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE Gliomas were analyzed for MGMT methylation, glioma CpG island methylator phenotype and IDH1 R132H. 27337298 2016
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE IDH1 R132H mutation regulates glioma chemosensitivity through Nrf2 pathway. 28427200 2017
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE Small-size DNA (150-250 base pairs) was extracted from the plasma of 31 controls and 80 patients with glioma with known IDH1(R132H) status and correlated with MRI data. 23035067 2012
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.800 GeneticVariation BEFREE Data showed that 53.7% (72/134) of cases showed mutations affecting codon 132 of IDH1, including 73.2% of LOs, 82.9% of AOs and three primary GBMs (6.5%).All IDH1 mutations were Arg132His. 22922798 2012
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE Our results indicate the usefulness of assessing the R132H IDH1 mutation in glioma patients: the presence or absence of the R132H mutation can help pathologists to distinguish pilocytic astrocytomas (IDH1 WT) from diffuse ones (R132H IDH1/WT). 23934769 2014
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE Mutations in the isocitrate dehydrogenase (IDH) 1 gene are commonly found in human glioma, with the majority of low-grade gliomas harboring a recurrent point mutation (IDH1 R132H). 31768950 2019
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.800 GeneticVariation BEFREE Three GBM-O samples had IDH1 (p.R132H) mutations; two of these also demonstrated 1p/19q co-deletion and had a proneural transcriptional profile, a molecular signature characteristic of oligodendroglioma. 26757882 2016
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE This case suggests that 1p/19q co-deletion may rarely precede IDH1 mutations or that IDH1 mutations may be secondarily lost, as demonstrated by IDH1-R132H positive and negative cells in a glioma with diffuse 1p/19q co-deletion. 25907263 2016
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE Further, overexpression of β-catenin in IDH1-R132H glio</span>ma cells restored the cellular phenotype induced by this mutation. 26860959 2016
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE In conclusion, we established an anti-IDH1(R132H)-specific monoclonal antibody IMab-1, which should be significantly useful for diagnosis and biological evaluation of mutation-bearing gliomas. 19818334 2009
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE Using murine glioma progenitor cells, we demonstrate that IDH1(R132H) exerts a growth-inhibitory effect that is paralleled by deficiency in metabolic flux from glucose and glutamine to lipids. 25225364 2014
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE Of 158 tumors with sufficient tissue, 110 (70 %) showed nuclear cMYC immunopositivity--most frequent (95 %, χ(2) p = 0.0248) and intense (mean 1.33, ANOVA p = 0.0179) in anaplastic astrocytomas versus glioblastomas (63 %) or low grade gliomas (74 %). cMYC expression associated with younger age as well as p53 immunopositivity (OR = 3.6, p = 0.0332) and mutant IDH1 (R132H) (OR = 7.4, p = 0.06) among malignant gliomas in our cohort. 23934175 2013
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE These results support a role for Fn14 in the more aggressive and invasive phenotype associated with IDH1 WT tumors and indicate that the low levels of Fn14 gene expression noted in IDH1 R132H mutant gliomas may be due to epigenetic regulation via changes in DNA methylation. 29453678 2018
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.800 GeneticVariation BEFREE We evaluated nuclear cMYC protein levels and IDH1 (R132H) by immunohistochemistry in patients with oligodendroglioma/oligoastrocytomas (n = 20), astrocytomas (grade II) (n = 19), anaplastic astrocytomas (n = 21) or glioblastomas (n = 111). 23934175 2013
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE As IDH1(R132H) is present in all tumour cells of these slow-growing gliomas, a mutation-specific anti-IDH1(R132H) vaccine may represent a viable novel therapeutic strategy for IDH1(R132H)-mutated tumours. 25043048 2014
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016