Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.070 | GeneticVariation | BEFREE | IDH1-R132H acts as a tumor suppressor in glioma via epigenetic up-regulation of the DNA damage response. | 30760578 | 2019 |
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0.070 | GeneticVariation | BEFREE | IDH1 R132H mutation regulates glioma chemosensitivity through Nrf2 pathway. | 28427200 | 2017 |
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0.070 | GeneticVariation | BEFREE | This case suggests that 1p/19q co-deletion may rarely precede IDH1 mutations or that IDH1 mutations may be secondarily lost, as demonstrated by IDH1-R132H positive and negative cells in a glioma with diffuse 1p/19q co-deletion. | 25907263 | 2016 |
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0.070 | GeneticVariation | BEFREE | Of 158 tumors with sufficient tissue, 110 (70 %) showed nuclear cMYC immunopositivity--most frequent (95 %, χ(2) p = 0.0248) and intense (mean 1.33, ANOVA p = 0.0179) in anaplastic astrocytomas versus glioblastomas (63 %) or low grade gliomas (74 %). cMYC expression associated with younger age as well as p53 immunopositivity (OR = 3.6, p = 0.0332) and mutant IDH1 (R132H) (OR = 7.4, p = 0.06) among malignant gliomas in our cohort. | 23934175 | 2013 |
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0.070 | GeneticVariation | BEFREE | This study analyses a series of 184 glioma cases in a tissue microarray (TMA)-based approach to assess the frequency of R132H point mutations in formalin-fixed, paraffin-embedded tissue samples. | 23361281 | 2013 |
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0.070 | GeneticVariation | BEFREE | For this study, 164 cases of glioma were evaluated immunohistochemically for IDH1 mutations (R132H and R132S) using anti-IDH1 mAbs (HMab-1 and SMab-1). | 22396072 | 2012 |
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0.070 | GeneticVariation | BEFREE | Interestingly, non-p.R132H mutations segregate in distinct histological and molecular subtypes of glioma. | 20077503 | 2010 |