Additionally, none of the detected FA-associated gene mutations in our patients (FANCA and FANCD2 mutations) are typically linked to early transformation to MDS or malignancy such as, e.g., FANC IVS5 in Ashkenazi Jews, FANCD1/BRCA2, or FANCN mutations (20–24). The gene discussed is PALB2; the disease is myelodysplastic syndrome.