ETV6 and acute myeloid leukemia: Germline variants were detected in each of the six tested genes, but the pathogenic germline mutations were detected only in three genes: CEBPA, ETV6, and IDH2. We have detected 4 types of mutations in these genes: c.337_344del and c.590_591insACCCGC in CEBPA, c.1075 C > T in ETV6, and c.419G > A in IDH2. Overall, eight pathogenic germline mutations were detected in 7/103 of AML patients, one patient had two pathogenic germline mutations.