Surprisingly, whole exome sequencing on paired leukemia and skin biopsy samples revealed 13.6% leukemia patients had germline variants in CHEK2. These findings were replicated in a small study of post-remission bone marrow samples of 47 patients with AML who were not suspected to have hereditary predisposition [43, 44]. Here, CHEK2 is linked to acute myeloid leukemia.