Genotype-phenotype associations among panel-based TP53+ subjects.
Huma Q RanaJacob CliffordLily HoangHolly LaDucaMary Helen BlackShuwei LiKelly McGoldrickVirginia SpeareJill S DolinskyChia-Ling GauJudy E GarberPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
Loss-of-function variants were more often associated with characteristic LFS cancer histories than other variant categories in TP53+ carriers ascertained through multigene panel testing. These findings require validation in other TP53+ cohorts. Genetic counseling for panel-ascertained TP53+ individuals should reflect the dynamic expansion of the Li-Fraumeni syndrome phenotype.