4 Matching Annotations
  1. Last 7 days
    1. Loss of ATRX confers DNA repair defects and PARP inhibitor sensitivity

      [Paper-level Aggregated] PMCID: PMC8203843

      Evidence Type(s): Oncogenic, Predictive

      Justification: Oncogenic: The IDH1 R132H mutation is associated with glioma and is known to induce homologous recombination defects, which contributes to the oncogenic process in these tumors. Predictive: The study demonstrates that the presence of the IDH1 R132H mutation influences sensitivity to PARP inhibitors, indicating that this variant can predict treatment response in glioma patients.

      Gene→Variant (gene-first): IDH1(3417):R132H

      Genes: IDH1(3417)

      Variants: R132H

    2. As described earlier, ATRX and IDH1/2 mutations co-occur frequently in glioma, and we and others have reported that the latter induce HR defects and PARP inhibitor sensitivity. We thus wanted to understand how PARPi sens

      [Paragraph-level] PMCID: PMC8203843 Section: RESULTS PassageIndex: 11

      Evidence Type(s): Predictive, Oncogenic

      Justification: Predictive: The passage discusses how IDH1 mutations, specifically R132H, induce sensitivity to PARP inhibitors, indicating a correlation with treatment response. Oncogenic: The context implies that the IDH1 R132H mutation contributes to tumor behavior, particularly in the context of glioma and its interaction with ATRX mutations.

      Gene→Variant (gene-first): 3417:R132H

      Genes: 3417

      Variants: R132H

    3. IDH1 R132H and ATRX KO have similar levels of PARP inhibitor sensitivity.

      [Paragraph-level] PMCID: PMC8203843 Section: ABSTRACT PassageIndex: 4

      Evidence Type(s): Predictive

      Justification: Predictive: The passage indicates that IDH1 R132H is associated with sensitivity to PARP inhibitors, which correlates the variant with a specific therapy response.

      Gene→Variant (gene-first): 3417:R132H

      Genes: 3417

      Variants: R132H

    4. IDH1 R132H and ATRX KO have similar levels of PARP inhibitor sensitivity.

      [Paragraph-level] PMCID: PMC8203843 Section: ABSTRACT PassageIndex: 4

      Evidence Type(s): Predictive

      Justification: Predictive: The passage indicates that IDH1 R132H is associated with sensitivity to PARP inhibitors, which correlates the variant with a specific therapy response.

      Gene→Variant (gene-first): 3417:R132H

      Genes: 3417

      Variants: R132H