Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.

doi:10.1038/s41467-025-65190-4

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Article

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.

Nature communications - 21 Nov 2025

Corbett Ryan J, Kaufman Rebecca S, McQuaid Shelly W, Vaksman Zalman, Phul Saksham, Brown Miguel A, Mason Jennifer L, Waszak Sebastian M, Zhang Bo, Zhong Chuwei, Blauel Emily, Desai Heena, Hausler Ryan, Naqvi Ammar S, Daggett Jessica M, Sickler Alex, Cresswell-Clay Evan C, Sullivan Patricia J, Chroni Antonia, Geng Zhuangzhuang, Gonzalez Elizabeth M, Zhu Yuankun, Heath Allison P, Li Marilyn, Storm Phillip B, Resnick Adam C, Maxwell Kara N, Cole Kristina A, Waanders Angela J, Bornhorst Miriam, MacFarland Suzanne P, Rokita Jo Lynne, Diskin Sharon J

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 characterize the prevalence and biological significance of germline P/LP variants in cancer predisposition genes across 830 CNS tumor patients from the Pediatric Brain Tumor Atlas (PBTA). We identify germline P/LP variants in 23.3% (193/830) of...

Topics

Humans
Germ-Line Mutation
Central Nervous System Neoplasms
Child
Genetic Predisposition to Disease
Male
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Child, Preschool

Adolescent

Infant

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Identifiers

PMID: 41271695
DOI: 10.1038/s41467-025-65190-4
PMCID: PMC12638842

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