Germline pathogenic variants in 786 neuroblastoma patients.
Jung KimZalman VaksmanLaura E EgolfRebecca KaufmanJ Perry EvansKarina L ConkriteArnavaz DaneshGonzalo LopezMichael P RandallMaiah H DentLance M FarraNeil MenghaniMalwina DymekHeena DesaiRyan Hauslernull nullnull nullnull nullJaime Guidry AuvilDaniela S GerhardHakon HakonarsonKara N MaxwellKristina A ColeTrevor J PughKristopher R BosseJaved KhanJun S WeiJohn M MarisDouglas R StewartSharon J DiskinPublished in: medRxiv : the preprint server for health sciences (2023)
Germline sequencing should be performed for all neuroblastoma patients at diagnosis to inform genetic counseling and frequency of clinical follow-up. Centralization of these data will facilitate longitudinal and mechanistic studies needed to identify specific actionable events and improve patient outcomes.