Abstract IA003: Genetic predisposition to pediatric cancer: the long way from discovery to surveillance guidelines

Abstract Pediatric cancers are estimated to be related to a genetic predisposition in about 8 to 10% of cases. This estimation mostly relies on already discovered cancer predisposing genes. However, the numerous new cancer predisposing genes that have been discovered in the past decade thanks to high throughput sequencing in vast cohort of pediatric patients illustrate that new genes may still be unravelled. Moreover, the frequency of early post-zygotic mosaicism is being readdressed thanks to more dedicated sequencing and research. The actual clinical impact of all those discoveries is the main challenge for the community: defining the penetrance, delineating the cancer spectrum and therefore the appropriate surveillance, and setting up innovative follow-up techniques are necessary. Here, we’ll describe recent findings on brain tumor predisposing genes (ELP1 and SMARCB1, among others) to illustrate the increasing recognition of genetic predisposition in pediatric cancers and how the clinical translation of these laboratory findings remain challenging at clinical and ethical levels. Citation Format: Franck Bourdeaut. Genetic predisposition to pediatric cancer: the long way from discovery to surveillance guidelines [abstract]. In: Proceedings of the AACR Special Conference in Cancer Research: Advances in Pediatric Cancer Research; 2024 Sep 5-8; Toronto, Ontario, Canada. Philadelphia (PA): AACR; Cancer Res 2024;84(17 Suppl):Abstract nr IA003.