Danielle Castillo, Tze-An Yuan, Bita Nehoray, Aleck Cervantes, Kevin K Tsang, Kai Yang, Sharon R Sand, Janet Mokhnatkin, Josef Herzog, Thomas P Slavin, Sophie Hyman, Alison Schwartz, Benjamin L Ebert, Christopher I Amos, Judy E Garber, Jeffrey N Weitzel
BACKGROUND: Though germline TP53 pathogenic/likely pathogenic variants (PV) are associated with Li-Fraumeni syndrome, many detected by multigene panels represent aberrant clonal expansion (ACE), most due to clonal hematopoiesis (CH). Discerning ACE/CH from germline variants and post-zygotic mosaicism (PZM) is critically needed for risk assessment and management. METHODS: Participants in the Li Fraumeni & TP53 Understanding & Progress (LiFT UP) study with a TP53 PV were eligible...
June 2, 2022: Cancer Epidemiology, Biomarkers & Prevention