The gene encoding an important myeloid transcription factor is mutated in cells of acute myeloid leukemia (somatic mutation) and in patients with autosomal dominant familial acute myeloid leukemia (germline mutation).
Barjesteh van Waalwijk van Doorn-Khosrovani S et al. (2003) Biallelic mutations in the CEBPA gene and low CEBPA expression levels as prognostic markers in intermediate-risk AML.
Smith ML et. al. (2004) Mutation of CEBPA in familial acute myeloid leukemia.
Update: Sept. 26, 2018