- Gene affected:
- CEBPA - CCAAT/enhancer-binding protein alpha
- Clinical significance
- CEPBA mutation is associated with a more favourable outcome in AML. Mutation of CEBPA affecting both alleles of the gene has its own classification in the WHO 2016 classification; "AML with biallelic mutations of CEBPA" with favourable outcome.
NGS panel gene coverage
The NGS panel provides full gene sequence coverage
Function of gene
CEBPA is a key hematopoietic transcription factor involved in lineage-specific myeloid differentiation. Two types of lesion may affect the gene: both types reduce function of the mature protein causing a failure of effective myeloid cell maturation (i.e. "loss of function" mutations).
- GeneWiki link: Gene Wiki entry for CEBPA