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An update on central nervous system tumors in germline replication-repair deficiency syndromes

1 Jan 2024

Abstract excerpt

DNA replication-repair deficiency (RRD) arises from pathogenic variants in the mismatch repair and/or polymerase-proofreading genes. Multiple germline cancer predisposition syndromes in children and young adults, including constitutional mismatch repair deficiency (CMMRD), Lynch, polymerase-proofreading deficiency, and rare digenic syndromes can lead to RRD cancers. The most frequent brain tumors in these...

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PMID: 39022642
DOI: 10.1093/noajnl/vdae102

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