Figure 3.
Clinical category assignment for individuals with a TP53 pathogenic variants. The figure depicts the overall proportion of the clinical categories (germline, ACE/CHIP, PZM) found in this clinic based genetic testing cohort. Based on cascade/transmission testing, clinical criteria, and/or multi tissue analyses, 89/134 (66%) cases had evidence for germline, 26/134 (19%) were categorized as ACE, and 7/134 (5.2%) had evidence for PZM. Additional tissue or transmission data would be needed to discern PZM from broader ACE category for the 12/134 (9%) that were indeterminate.