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 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 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
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 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
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 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
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 GeneticVariation BEFREE Data showed that 53.7% (72/134) of cases showed mutations affecting codon 132 of IDH1, including 73.2% of LOs, 82.9% of AOs and three primary GBMs (6.5%).All IDH1 mutations were Arg132His. 22922798

2012

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 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: rs121913499
rs121913499
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.710 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 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 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 HMab-2 detected endogenous IDH1-R132H protein expressed in glioblastoma in immunohistochemical analysis. 26381180

2015

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 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 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 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 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 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 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
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 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 Mutated IDH1 R132H protein and H3F3A K27M mutations indicate that a substantial number of GBMc are "metastatic" or "diaschismatic" lesions. 30203362

2018

dbSNP: rs121913500
rs121913500
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 GeneticVariation BEFREE Mutation of the isocitrate dehydrogenase 1 (IDH1) gene at codon 132 has been identified in approximately 70% of low-grade (II and III) human gliomas and secondary glioblastomas, with the IDH1 R132H point mutation representing 92.7% of these mutations. 30502793

2018

dbSNP: rs121913500
rs121913500
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 GeneticVariation BEFREE Our results indicate that the IDH1 R132H mutation is a powerful prognostic marker in GBM treated with chemoradiation. 20560678

2010

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