rs118101777, IDH2

N. diseases: 42
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
0.050 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
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
0.050 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
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
0.050 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
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
0.050 GeneticVariation BEFREE HMab-2 detected endogenous IDH1-R132H protein expressed in glioblastoma in immunohistochemical analysis. 26381180 2015
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
0.050 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