Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118101777
rs118101777
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C1621958
Disease:
Glioblastoma Multiforme
0.080 GeneticVariation BEFREE HMab-2 detected endogenous IDH1-R132H protein expressed in glioblastoma in immunohistochemical analysis. 26381180 2015
dbSNP: rs118101777
rs118101777
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C1621958
Disease:
Glioblastoma Multiforme
0.080 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
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C1621958
Disease:
Glioblastoma Multiforme
0.080 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
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C1621958
Disease:
Glioblastoma Multiforme
0.080 GeneticVariation BEFREE The prognostic value of IDH1 R132H mutation in GBM patients was verified. 24511544 2014
dbSNP: rs118101777
rs118101777
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C1621958
Disease:
Glioblastoma Multiforme
0.080 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
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C1621958
Disease:
Glioblastoma Multiforme
0.080 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
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C1621958
Disease:
Glioblastoma Multiforme
0.080 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
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C1621958
Disease:
Glioblastoma Multiforme
0.080 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