Article
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
EBioMedicine - 1 Jan 2023
Bonfiglio Ferdinando, Lasorsa Vito Alessandro, Cantalupo Sueva, D'Alterio Giuseppe, Aievola Vincenzo, Boccia Angelo, Ardito Martina, Furini Simone, Renieri Alessandra, Morini Martina, Stainczyk Sabine, Westermann Frank, Paolella Giovanni, Eva Alessandra, Iolascon Achille, Capasso Mario
Abstract excerpt
BACKGROUND: Neuroblastoma (NB) is the most common solid extracranial paediatric tumour. Genome-wide association studies have driven the discovery of common risk variants, but no large study has investigated the contribution of rare variants to NB susceptibility. Here, we conducted a whole-exome sequencing (WES) of 664 NB cases and 822 controls and used independent validation datasets to identify genes with rare...
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