Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors

Abstract excerpt

The contribution of rare pathogenic/likely pathogenic (P/LP) germline variants to pediatric central nervous system (CNS) tumor development remains understudied. Here, we characterized the prevalence and clinical significance of germline P/LP variants in cancer predisposition genes across 830 CNS tumor patients from the Pediatric Brain Tumor Atlas (PBTA). We identified germline P/LP variants in 23.3% (193/830) of p...

Topics

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• Adolescent
• Central Nervous System Neoplasms
• Child
• Child, Preschool
• Genetic Predisposition to Disease
• Germ-Line Mutation
• High-Throughput Nucleotide Sequencing
• Infant

Identifiers and source

Literature Corpus work

12921b3a-3df3-55aa-9abd-a93e351ab901

DOI

10.1101/2025.02.04.25321499