Pedigrees showing the genotypes and phenotypes detected in the new families with germline RUNX1 mutations and inherited HMs. Family 1: RUNX1 ΔP1Ex1-2 (A); family 2: RUNX1 ΔEx3-5 (B); family 3: RUNX1 L112Cfs*9 (C); family 4: RUNX1 R169I (D); family 5: RUNX1 D198V (E); family 6: RUNX1 G199E (F); family 7: RUNX1 R204Q (G); family 8: RUNX1 R320* (H); family 9: RUNX1 R320* (I); family 10: RUNX1 c.968-10C>A (J). Δ indicates a partial gene deletion; *, stop-gain mutation; amino acid changes (p.) are mentioned for missense variants, and the splice-site variant is annotated to the cDNA position. a, age at last date of contact; BM, bone marrow; BMT, bone marrow transplant; BrCa, breast cancer; CLL/SLL, chronic lymphocytic leukemia/small lymphocytic lymphoma; d, age at death; dx, age at diagnosis; fs, frameshift mutation; MUD, matched unrelated donor; Panc cancer, pancreatic cancer; sAML, secondary AML; SCT, stem cell transplant; T-ALL, T-cell acute lymphoblastic leukemia; tMDS, therapy-related MDS; T-NHL, T-cell non-Hodgkin lymphoma.