PubMed
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Beyond variant detection: Mismatch repair gene alterations in plasma cell-free DNA from 1,226 glioma samples, and plasma-confirmed functional deficiency in an unbiopsied pontine glioma.
Mismatch repair (MMR) gene alterations are uncommon in glioma but can produce hypermutation and sensitivity to checkpoint inhibition. Profiling is often unavailable in diffuse intrinsic pontine glioma (DIPG), where biopsy carries substantial risk. We assessed whether plasma cell-free DNA (cfDNA) seq
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