SAT-LB058 Effect of a Genetic Modifier of Cancer Risk in TP53 Mutation Carriers

Individuals harboring a germline TP53 mutation have a high lifetime risk of a broad spectrum of cancers, but the age of onset, tumor types and penetrance vary among carriers. The TP53-R337H variant is common in South and Southeastern Brazil due to founder effect and detected in 0.3% of the general population. TP53-R337H predisposes children to adrenocortical tumors (ACTs) and adults to various other Li-Fraumeni syndrome (LFS)-associated core...