Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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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 |
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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 |
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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 |
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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 |
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0.080 | GeneticVariation | BEFREE | HMab-2 detected endogenous IDH1-R132H protein expressed in glioblastoma in immunohistochemical analysis. | 26381180 | 2015 |
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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 |
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0.080 | GeneticVariation | BEFREE | The prognostic value of IDH1 R132H mutation in GBM patients was verified. | 24511544 | 2014 |
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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 |