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 | The reported two cases were initially diagnosed as oligodendroglioma with 1p/19q-codeletion and mutation of <i>isocitrate dehydrogenase 1 (IDH1)</i>-R132H. | 31508376 | 2019 |
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0.080 | GeneticVariation | BEFREE | The histopathological findings of his surgical specimen revealed characteristics of a low-grade glioma with an IDH1 c.395G>A (R132H) mutation and 1p/19q codeletion, which led to a definitive diagnosis of oligodendroglioma. | 29224049 | 2018 |
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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 | 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 | This glioma xenograft is the first to display a pure oligodendroglioma histology and expression of R132H. | 23527265 | 2013 |
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0.080 | GeneticVariation | BEFREE | We evaluated nuclear cMYC protein levels and IDH1 (R132H) by immunohistochemistry in patients with oligodendroglioma/oligoastrocytomas (n = 20), astrocytomas (grade II) (n = 19), anaplastic astrocytomas (n = 21) or glioblastomas (n = 111). | 23934175 | 2013 |
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0.080 | GeneticVariation | BEFREE | Increased mitochondrial activity in a novel IDH1-R132H mutant human oligodendroglioma xenograft model: in situ detection of 2-HG and α-KG. | 24252742 | 2013 |
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0.080 | GeneticVariation | BEFREE | The mutation analysis performed on the latter case with DNA separately sampled from the oligodendroglioma- like area and the astrocytoma-like area detected IDH1 G395A in both areas. | 22385787 | 2012 |