AI-guided identification of risk variants for adrenocortical tumours in TP53 p.R337H carrier children: a genetic association studyResearch in context

• Main Authors: Bonald C. Figueiredo (Author), Florent Dupont (Author), Geoffrey Portelli (Author), Tatiana E.J. Costa (Author), Gislaine Custódio (Author), Mariana M. Paraizo (Author), Heloisa Komechen (Author), Hadrien Gascuel (Author), Maxime Bottau (Author), Elodie Callea (Author), Ana Paula Percicote (Author), Leila G. Telles (Author), Mehdi Jendoubi (Author), Enzo Lalli (Author)
• Format: Book
• Published: Elsevier, 2024-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary: Background: Adrenocortical tumours (ACT) in children are part of the Li-Fraumeni cancer spectrum and are frequently associated with a germline TP53 pathogenic variant. TP53 p.R337H is highly prevalent in the south and southeast of Brazil and predisposes to ACT with low penetrance. Thus, we...