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  1. Last 7 days
    1. Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations

      [Paper-level Aggregated] PMCID: PMC3997489

      Evidence Type(s): Oncogenic, Prognostic

      Justification: Oncogenic: The text indicates that nearly 80% of DIPGs harbor a K27M mutation, suggesting that this variant is associated with the disease and contributes to its oncogenic properties. Prognostic: The identification of distinct molecular subgroups, including those with the K27M mutation, implies that this variant may have implications for disease progression and patient outcomes in DIPG.

      Gene→Variant (gene-first): H3-3B(3021):K27M

      Genes: H3-3B(3021)

      Variants: K27M

    2. Diffuse Intrinsic Pontine Glioma (DIPG) is a fatal brain cancer that arises in the brainstem of children with no effective treatment and near 100% fatality. The failure of most therapies can be attributed to the delicate

      [Paragraph-level] PMCID: PMC3997489 Section: ABSTRACT PassageIndex: 1

      Evidence Type(s): Diagnostic, Oncogenic

      Justification: Diagnostic: The passage discusses the prevalence of the K27M mutation in DIPG, indicating its association with this specific disease, which supports its use as a biomarker for classification. Oncogenic: The K27M mutation is described as part of the unique genetic make-up of DIPG, suggesting its contribution to tumor development or progression in this specific cancer type.

      Gene→Variant (gene-first): 3021:K27M

      Genes: 3021

      Variants: K27M