Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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 Here we show that SREBPs were up-regulated in U87 human glioblastoma cells transfected with an IDH1(R132H)-expression plasmid. 24077277

2013

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE This group showed absent IDH1-R132</span>H expression, which is characteristic of primary GBM. 22197544

2012

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 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 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 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 Furthermore, SMab-1 specifically stained the IDH1-R132S-expressing glioblastoma cells in immunocytochemistry and immunohistochemistry, but did not react with IDH1-WT or IDH1-R132H-containing glioblastoma cells. 21352804

2011

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 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 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 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 In addition to the previously reported p.R132H and p.R132S alleles, we identified three novel somatic mutations (p.R132C, p.R132G, and p.R132L) affecting residue IDH1(R132) in GBM. 19117336

2009

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 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 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 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 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

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE Expression of R132H mutational IDH1 in human U87 glioblastoma cells affects the SREBP1a pathway and induces cellular proliferation. 23011765

2013

dbSNP: rs113488022
rs113488022
0.090 GeneticVariation BEFREE BRAF V600E mutations were identified in only 2 of 71 (2.8%) glioblastoma (GBM) analyzed, including 1 of 9 (11.1%) giant cell GBM (gcGBM). 21479234

2011

dbSNP: rs113488022
rs113488022
0.090 GeneticVariation BEFREE Epithelioid GBM with BRAF V600E mutation can be considered a good treatment indication for precision medicine, and this patient-derived cell line should be useful for prediction of the tumor response and clarification of its biological characteristics. 31345255

2019