Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913500
rs121913500
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 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
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 GeneticVariation BEFREE Somatic mutation of Isocitrate dehydrogenase 1 (IDH1) at the locus of R132 (IDH1 (R132H)) occurs in > 70% of WHO grade II-III gliomas and secondary glioblastomas. 22785212

2012

dbSNP: rs121913500
rs121913500
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 GeneticVariation BEFREE We analyzed patients with newly diagnosed GBM and excluded patients who presented with IDH1 R132H mutations. 29617848

2019

dbSNP: rs121913500
rs121913500
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 GeneticVariation BEFREE Somatic mutations of the isocitrate dehydrogenase-1 gene (IDH1), most commonly resulting in replacement of arginine at position 132 by histidine (p.R132H), have been reported for WHO grade II and III diffuse gliomas and secondary glioblastomas. 22821382

2012

dbSNP: rs121913500
rs121913500
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 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
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
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
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 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
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 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
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 GeneticVariation BEFREE This group showed absent IDH1-R132</span>H expression, which is characteristic of primary GBM. 22197544

2012

dbSNP: rs121913500
rs121913500
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 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
CUI: C0017636
Disease: Glioblastoma
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

dbSNP: rs121913500
rs121913500
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 GeneticVariation BEFREE We prospectively analyzed the clinical data over the course of the disease, baseline MR imaging, and histological characteristics (p53 overexpression, the Ki67 proliferation index, and presence of the IDH1 R132H mutation), in glioblastomas treated in a single hospital from November 2012 to July 2014. 28073027

2017

dbSNP: rs121913500
rs121913500
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 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
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 GeneticVariation BEFREE Expression of R132H mutational IDH1 in human U87 glioblastoma cells affects the SREBP1a pathway and induces cellular proliferation. 23011765

2013

dbSNP: rs121913500
rs121913500
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 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
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 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
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 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
CUI: C0017636
Disease: Glioblastoma
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

dbSNP: rs121913500
rs121913500
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 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
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 GeneticVariation BEFREE Overexpression of IDH1(R132H) and IDH2(R172K) mutant protein in glioblastoma cells resulted in increased radiation sensitivity and altered ROS metabolism and suppression of growth and migration in vitro. 23115158

2013

dbSNP: rs121913500
rs121913500
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 GeneticVariation BEFREE Isocitrate dehydrogenase (IDH) is mutated in >80% of lower-grade infiltrating gliomas in adults and in ~10% of glioblastomas, with IDH1 (R132H) being the most common mutation. 30221786

2019

dbSNP: rs121913500
rs121913500
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 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
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 GeneticVariation BEFREE Isocitrate dehydrogenase 1 (IDH1) gene mutations, primarily of the R132H type, occur in approximately 60 - 90% of diffuse and anaplastic gliomas and secondary glioblastomas. 21955925

2011

dbSNP: rs121913500
rs121913500
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 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
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 GeneticVariation BEFREE We highlight the importance of Sox11 expression as a favourable prognosticator in glioblastomas. c-Met/nestin/IDH1-R132H expression phenotypes recapitulate the molecular subgroups of malignant glioma. 23619925

2013