The genetic landscape of inherited HM. The order of the 11 established germ line mutations is depicted based on their date of discovery. Mutations are broadly assigned to 3 groups according to phenotype: HMs alone (blue), associated bone marrow failure syndromes (red), or characteristic cytopenias and/or platelet dysfunction (yellow). The incidence of these mutations varies considerably with >10 pedigrees reported for mutations in RUNX1, TERC, CEBPA, TERT, ANKRD26, GATA2, and now DDX41 with, in certain families/genes, apparent clustering of myeloid and lymphoid malignancies.

The genetic landscape of inherited HM. The order of the 11 established germ line mutations is depicted based on their date of discovery. Mutations are broadly assigned to 3 groups according to phenotype: HMs alone (blue), associated bone marrow failure syndromes (red), or characteristic cytopenias and/or platelet dysfunction (yellow). The incidence of these mutations varies considerably with >10 pedigrees reported for mutations in RUNX1, TERC, CEBPA, TERT, ANKRD26, GATA2, and now DDX41 with, in certain families/genes, apparent clustering of myeloid and lymphoid malignancies.

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