Germline Variants in Cancer Predisposition Genes in Pediatric Patients with Central Nervous System Tumors.

ABSTRACT: Central nervous system (CNS) tumors comprise around 20% of childhood malignancies. Germline variants in cancer predisposition genes (CPGs) are found in approximately 10% of pediatric patients with CNS tumors. This study aimed to characterize variants in CPGs in pediatric patients with CNS tumors and correlate these findings with clinically relevant data. Genomic DNA was isolated from the peripheral blood of 51 pediatric patients and further analyzed by the next-generation sequencing approach. Bioinformatic analysis was done using an "in-house" gene list panel, which included 144 genes related to pediatric brain tumors, and the gene list panel Neoplasm (HP:0002664). Our study found that 27% of pediatric patients with CNS tumors have a germline variant in some of the known CPGs, like ALK<

SUBMITTER: Jovanovic A 

PROVIDER: S-EPMC10744041 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature