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Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency

1 Jan 2022

Abstract excerpt

Cancers arising from germline DNA mismatch repair deficiency or polymerase proofreading deficiency (MMRD and PPD) in children harbour the highest mutational and microsatellite insertion-deletion (MS-indel) burden in humans. MMRD and PPD cancers are commonly lethal due to the inherent resistance to chemo-irradiation. Although immune checkpoint inhibitors (ICIs) have failed to benefit children in previous studies,...

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PMID: 34992263
DOI: 10.1038/s41591-021-01581-6

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