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