Clinical timeline and pedigrees of the familial AML study cohort. Illustrated is a timeline of disease events and family trees for pedigrees A to J. Clinical follow-up data were collected for 24 patients from 10 pedigrees (highlighted orange): families A,¹⁰  B,¹⁴  C (unpublished), D,¹⁷  E,¹⁵  F,¹²  G,^2,16  H,²  I,¹³  and J.¹³  Tumor DNA samples were genetically profiled in 7 patients (highlighted blue), including 7 primary tumors and 2 recurrent disease episodes (as shown on the timeline). The clinical timeline identifies disease events in each individual, with the main modality of treatment received: conventional chemotherapy (red), autologous transplant (blue), and allogeneic transplant (black). More than 50% of patients experienced recurrent disease, often with prolonged intervening periods of remission (>5 years), as seen in B.I.1, E.I.1, E.II.1, F.IV.2, and F.V.1. In addition to the confirmed asymptomatic carriers (C.II.3, E.II.2 and I.III.3), 3 individuals appear as obligate carriers (H.I.2, F.II.2 and F.II.3), although these were not tested in the study.