Impact of Neonatal Screening and Surveillance for the <i>TP53</i> R337H Mutation on Early Detection of Childhood Adrenocortical Tumors

Abstract

These findings establish the prevalence of the TP53 R337H mutation in Paraná state and the penetrance of ACTs among carriers. Importantly, screening and surveillance of heterozygous carriers are effective in detecting ACTs when readily curable.