Germline variants observed in pediatric cancer patients related to hereditary breast and ovarian cancer in adults.

ABSTRACT: Genetic predisposition is a major cause of cancer, yet little is known about the role of adult cancer predisposition syndromes (CPSs) in childhood cancers. Although extensively studied in adults, information about the impact of germline variants in genes associated with hereditary breast and ovarian cancer (HBOC) remains scarce in the pediatric context. To elucidate whether (likely) pathogenic variants (LP/PVs) in 25 selected HBOC-related genes may contribute to cancer risk in children, we analyzed the spectrum of occurring germline variants. We assessed 372 children (median age at diagnosis 5.1 [0-22.2] years; 160 girls [43%]), including 212 (57%) with hematologic neoplasms, 71 (19%) with brain tumors, and 89 (24%) with various solid entities. Twenty-seven of 372 patients (7%) carried LP/

SUBMITTER: Daugs K 

PROVIDER: S-EPMC12541558 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature