Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118101777
rs118101777
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
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: rs118101777
rs118101777
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 GeneticVariation BEFREE We analyzed patients with newly diagnosed GBM and excluded patients who presented with IDH1 R132H mutations. 29617848

2019

dbSNP: rs118101777
rs118101777
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 GeneticVariation BEFREE The R132H mutation in IDH1 was found in 60.5% (23/38) of patients in the AA cohort (Groups 2 and 4) and 20.0% (13/65) of patients from our GBM cohort (Groups 3 and 5), whereas all patients with ODG (Group 1) had a mutation either in IDH1 (n = 62) or IDH2 (n = 3). 28851427

2017

dbSNP: rs118101777
rs118101777
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
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: rs118101777
rs118101777
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 GeneticVariation BEFREE Although no single variant showed an association which was statistically significant at the genome-wide threshold a number represented promising associations - BRCA2:c.9976A>T, p.(Lys3326Ter), which has been shown to influence breast and lung cancer risk (odds ratio (OR)=2.3, P=4.00 × 10(-4) for glioblastoma (GBM)) and IDH2:c.782G>A, p.(Arg261His) (OR=3.21, P=7.67 × 10(-3), for non-GBM). 26264438

2016

dbSNP: rs118101777
rs118101777
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
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: rs118101777
rs118101777
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
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: rs118101777
rs118101777
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 GeneticVariation BEFREE HMab-2 detected endogenous IDH1-R132H protein expressed in glioblastoma in immunohistochemical analysis. 26381180

2015

dbSNP: rs118101777
rs118101777
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 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: rs118101777
rs118101777
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 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: rs118101777
rs118101777
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 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