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 Bosse

Published 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.

Keyphrases

dna repair
dna damage
dna damage response
papillary thyroid
copy number
oxidative stress
gene expression
young adults
dna methylation
lymph node metastasis
childhood cancer