Redefining germline predisposition in children with molecularly characterized ependymoma: a population-based 20-year cohort.

ABSTRACT: Ependymoma is the second most common malignant brain tumor in children. The etiology is largely unknown and germline DNA sequencing studies focusing on childhood ependymoma are limited. We therefore performed germline whole-genome sequencing on a population-based cohort of children diagnosed with ependymoma in Denmark over the past 20 years (n = 43). Single nucleotide and structural germline variants in 457 cancer related genes and 2986 highly evolutionarily constrained genes were assessed in 37 children with normal tissue available for sequencing. Molecular ependymoma classification was performed using DNA methylation profiling for 39 children with available tumor tissue. Pathogenic germline variants in known cancer predisposition genes were detected in 11% (4/37; NF2, LZTR1, NF1 & TP53).

SUBMITTER: Foss-Skiftesvik J 

PROVIDER: S-EPMC9404601 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature