Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival.

ABSTRACT:

Background

Neuroblastoma is an embryonal cancer of the developing sympathetic nervous system. The genetic contribution of rare pathogenic or likely pathogenic germline variants in patients without a family history remains unclear.

Methods

Germline DNA sequencing was performed on 786 neuroblastoma patients. The frequency of rare cancer predisposition gene pathogenic or likely pathogenic variants in patients was compared with 2 cancer-free control cohorts. Matched tumor DNA sequencing was evaluated for second hits, and germline DNA array data from 5585 neuroblastoma patients and 23 505 cancer-free control children were analyzed to identify rare germline copy number variants. Patients with germline pathogenic or likely pathogenic variants were compared with those without to tes

SUBMITTER: Kim J 

PROVIDER: S-EPMC10777667 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature