The SAMD9, SAMD9L, SRP72, TERC and TERT genes, together with other genes typically mutated in sporadic MDS, such as TP53, GATA2, DDX41, ANKRD26, ETV6, CEBPA, ASXL1 and RUNX1, have been associated with the germline development of the disease [49]. This evidence concerns the gene RUNX1 and myelodysplastic syndrome.