Article
Clonal Hematopoiesis and Mosaicism Revealed by a Multi-Tissue Analysis of Constitutional TP53 Status.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology - 2 Aug 2022
Castillo Danielle, Yuan Tze-An, Nehoray Bita, Cervantes Aleck, Tsang Kevin K, Yang Kai, Sand Sharon R, Mokhnatkin Janet, Herzog Josef, Slavin Thomas P, Hyman Sophie, Schwartz Alison, Ebert Benjamin L, Amos Christopher I, Garber Judy E, Weitzel Jeffrey N
Abstract excerpt
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 postzygotic mosaicism (PZM) is critically needed for risk assessment and management. METHODS: Participants in the Li-Fraumeni & TP53...
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