Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE For this reason, it was suggested that immunohistochemistry against IDH1 R132H is sufficient to classify GBM as IDH wild-type in this age group. 31758617

2020

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE Tumor-to-muscle ratios were also significantly higher in U251/IDH1 R132H tumo</span>rs (3.36 ± </span>0.41 vs. 1.88 ± 0.59, p = 0.0030). 31667733

2019

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE The R132H mutation in isocitrate dehydrogenase 1 (IDH1<sup>R132H</sup>) is commonly observed and associated with better survival in glioblastoma multiforme (GBM), a malignant brain tumor. 31151327

2019

dbSNP: rs121913500
rs121913500
0.100 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

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE In the subgroup of 142 glioma patients characterized by IDH1-R132H status, METT/N ratio demonstrated a significant prognostic impact in IDH1-R132H wildtype astrocytomas and glioblastoma (P = 0.001). 29016947

2018

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE Low-grade gliomas (WHO II/III) had lower xCT expression than glioblastoma (p = 0.001), and tumors without IDH1 R132H mutation tended to have higher xCT levels (p = 0.07). 29404978

2018

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE The findings of the current study demonstrate presence of the IDH1 R132H mutation in primary human glioblastoma cell lines with upregulated HIF-1α expression, downregulating c-MYC activity and resulting in a consequential decrease in miR-20a, which is responsible for cell proliferation and resistance to standard temozolomide treatment. 29625108

2018

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE To confirm this mutation's role in GSCs, the IDH1-R132H in GSCs isolated from glioblastoma patients with IDH1 mutations was overexpressed by using lentiviral constructs in vitro, and then the proliferation, differentiation, apoptosis, migration and invasion of the transfected GSCs were explored. 29115585

2018

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation 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

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE In this study, we investigated which genes are differentially regulated in IDH1 wild type (IDH1WT) or IDH1 R132H mutation (IDH1R132H) glioblastoma cells. 28445981

2017

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE We identified a small cohort of WHO grade II-III astrocytomas that harbored the IDH1 R132H mutation, as confirmed by both immunohistochemistry and molecular sequence analysis, which nonetheless had unexpectedly rapid recurrence and subsequent progression to glioblastoma. 28421459

2017

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE In addition, overexpression of IDH1-R132H in glioblastoma cell lines U87 and U251 led to reduced cell proliferation, migration and invasion, accompanied by increased apoptosis. 26860959

2016

dbSNP: rs121913500
rs121913500
0.100 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

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE A total of 15.3% of enrolled GBMs demonstrated loss of ATRX expression (ATRX-), 10.4% expressed an aberrant IDH1 R132H protein (IDH1+), and 48.4% exhibited p53 overexpression (p53+). 27478330

2016

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE Among the GBM cases it was noted that the IDH1 immunopositive tumors (R132H mutant protein; n=17) had a low MnSOD expression as opposed to IDH1 immunonegative tumors (n=106), which had high expression of MnSOD (p=0.0307). 26616112

2016

dbSNP: rs121913500
rs121913500
0.100 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

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE A clonal IDH1 R132H mutation in the primary, a known GBM driver event, was detectable at only very low frequency in the recurrent tumour. 25732040

2015

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE The aim of this study was to explore the difference in high mobility group A1 (HMGA1) expression and isocitrate dehydrogenase (IDH) 1 R132H point mutation in initial and recurrent glioblastoma multiforme (GBM), and to further identify whether the expression of HMGA1 has a role in the malignant progression of GBM. 26092597

2015

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE HMab-2 detected endogenous IDH1-R132H protein expressed in glioblastoma in immunohistochemical analysis. 26381180

2015

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), strong p53 immunolabeling (1/5), or IDH1 (R132H) protein expression (0/5); but expressed the mesenchymal marker podoplanin in 4/5. 26190195

2015

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an "integrated" diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma. 25427834

2015

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE Using antibody against p53 and IDH1 R132H, the authors immunohistochemically analyzed GBM tissue from patients who had undergone surgery at the University of Miyazaki Hospital during August 2005-December 2011. 25415071

2015

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE Induction of G-CIMP+ state by exogenous expression of a mutated isocitrate dehydrogenase 1, IDH1-R132H, suppressed EGFR and H-Ras protein expression as well as pERK accumulation in independent glioblastoma models. 25277177

2014

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE The prognostic value of IDH1 R132H mutation in GBM patients was verified. 24511544

2014

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE We also found that overexpression of αB-crystallin can be induced by transfecting U251 human glioblastoma cell lines with the IDH1(R132H) mutation. 24473683

2014