Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE Additionally, 5-aza enhances the therapeutic effect of the DNA damaging agent TMZ in both subcutaneous and orthotopic PDX models of IDH1 R132H mutant glioma. 30184215

2019

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE CRISPR Editing of Mutant IDH1 R132H Induces a CpG Methylation-Low State in Patient-Derived Glioma Models of G-CIMP. 31292202

2019

dbSNP: rs121913500
rs121913500
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

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE IDH1-R132H acts as a tumor suppressor in glioma via epigenetic up-regulation of the DNA damage response. 30760578

2019

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE In 1 case, an IDH1 R132H-mutant glioma was misdiagnosed as a demyelinating condition by frozen section histology during the intraoperative consultation, and no resection was performed pending the final pathology report. 30611146

2019

dbSNP: rs121913500
rs121913500
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

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE The R132H mutation in isocitrate dehydrogenase 1 (IDH1-R132H) is associated with better prognosis in glioma patients. 29115585

2018

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE Sequencing for rare IDH mutations is advised for A,NOS and OA,NOS groups, but not for the IDH1(R132H)-non-mutant diffuse gliomas with 1p/19q co-deletion. 28801347

2018

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE This novel series of IDH1(R132H) inhibitors have potential to be further developed for the treatment of glioma with IDH1 mutation. 29792149

2018

dbSNP: rs121913500
rs121913500
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

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE Oncogenic MicroRNA-20a is downregulated by the HIF-1α/c-MYC pathway in IDH1 R132H-mutant glioma. 29625108

2018

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE Recurrent heterozygous mutation of isocitrate dehydrogenase 1 gene (<i>IDH1</i>), predominantly resulting in histidine substitution at arginine 132, was first identified in glioma. 30416682

2018

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE Patients/Methods In a prospective cohort study, intratumoral IDH1 R132H mutation and podoplanin were determined in brain tumor specimens (mainly glioma) by immunohistochemistry. 29676036

2018

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE MiR-148a increases glioma cell migration and invasion by downregulating GADD45A in human gliomas with IDH1 R132H mutations. 28445981

2017

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE IDH1 R132H mutation regulates glioma chemosensitivity through Nrf2 pathway. 28427200

2017

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE Our results suggest that the pathogenesis of multicentric gliomas is different from the mutant IDH1-R132H pathogenesis of lower-grade glioma and secondary glioblastomas. 27553586

2017

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE • SWI-LIV is significantly increased in high-grade and IDH1-R132H negative gliomas. 27300198

2017

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE This study is to understand the effects of IDH1 R132H mutation in gliomagenesis and to develop new strategies to treat glioma with IDH1 R132H mutation. 28052098

2017

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE In cases tested by DNA sequencing, the fraction of non-R132H mutations was 5.4%, which included only 2 high-grade gliomas in patients ≥55 years (0.9%). 29016871

2017

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE Although there are many changes of genes in tumour malignant progression, IDH1 R132H mutation status in glioma progression remained unclear. 28928859

2017

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation 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

dbSNP: rs121913500
rs121913500
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

dbSNP: rs121913500
rs121913500
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

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE Gliomas were analyzed for MGMT methylation, glioma CpG island methylator phenotype and IDH1 R132H. 27337298

2016

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE We identified a single significant correlation resulting in increased overall survival from temozolomide in lower-grade glioma with IDH1 R132H mutations. 26936071

2016