Primary mismatch repair-deficient gliomas are hypermutant but molecularly heterogeneous cancers with poor prognosis. We show that non-random mutational signatures cause somatic mutations in key glioma drivers that define genetic subgroups of this disease. Each subgroup harbors distinct mechanisms of genomic instability that shape their biological behaviors and immunotherapy responses.
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References
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This is a summary of: Fernandez, N. R. et al. Patterns of hypermutation shape tumorigenesis and immunotherapy response in mismatch-repair-deficient glioma. Nat. Genet. https://doi.org/10.1038/s41588-025-02420-x (2025).
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Mutation patterns drive mismatch repair-deficient glioma evolution. Nat Genet 58, 16–17 (2026). https://doi.org/10.1038/s41588-025-02424-7
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DOI: https://doi.org/10.1038/s41588-025-02424-7
