BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma.
Michael P RandallLaura E EgolfZalman VaksmanMinu SamantaMatthew TsangDavid GroffJ Perry EvansJo Lynne RokitaMehdi LayeghifardAdam ShlienJohn M MarisSharon J DiskinKristopher R BossePublished in: bioRxiv : the preprint server for biology (2023)
contributes to neuroblastoma pathogenesis via dysregulation of critical cellular DNA repair functions, with implications for neuroblastoma treatment, risk stratification, and cancer predisposition.