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 In this study, we generated clonal U87 and U251 glioma cell lines overexpressing the R132H mutant protein (IDH1-R132H). 25283382

2015

dbSNP: rs121913500
rs121913500
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

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE The isocitrate dehydrogenase 1 (IDH1) R132H mutation is the most common mutation in World Health Organization (WHO) grade II gliomas, reported to be expressed in 70-80%, but only 5-10% of high grade gliomas. 24903073

2014

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 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

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE This study analyses a series of 184 glioma cases in a tissue microarray (TMA)-based approach to assess the frequency of R132H point mutations in formalin-fixed, paraffin-embedded tissue samples. 23361281

2013

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 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 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

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 We earlier established a monoclonal antibody (mAb), IMab-1, which is specific for R132H-containing IDH1 (IDH1-R132H), the most frequent IDH1 mutation in gliomas. 21352804

2011

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 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 In conclusion, the association of a C-terminally truncated form of αB-crystallin protein with the IDH1(R132H) mutation is a novel finding that could impact apoptosis and stress response in IDH1 mutant glioma. 24473683

2014

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 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 Interestingly, non-p.R132H mutations segregate in distinct histological and molecular subtypes of glioma. 20077503

2010

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 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

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 This glioma xenograft is the first to display a pure oligodendroglioma histology and expression of R132H. 23527265

2013

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE We developed and validated a new real-time quantitative polymerase chain reaction (PCR) assay for single-step detection of IDH1 R132H and 11 rare IDH1/2 mutations in formalin-fixed paraffin-embedded (FFPE) glioma samples. 24889502

2014

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE For this study, 164 cases of glioma were evaluated immunohistochemically for IDH1 mutations (R132H and R132S) using anti-IDH1 mAbs (HMab-1 and SMab-1). 22396072

2012

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