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