Gene affected:
EP300 - adenovirus E1A-associated cellular p300 transcriptional co-activator protein

Clinical significance
EP300 (together with the related protein) CREBp-binding protein (CREBBP) undergo inactivation mutations of a single allele in germinal-centre-derived B cell lymphomas: particularly in DLBL- NHL and follicular lymphoma. They are considered to be tumour suppressors in B-cell lymphomas, and for lymphomas where evidence exists they may be associated with adverse prognosis. These two genes (together with EZH2, ARID1A, MEF2B, FOXO1, and CARD11) are used in the m7-FL International Prognostic Index (M7-FLIPI) (see references)

Function of gene

EP300 functions as a transcriptional co-activator protein that regulates transcription via chromatin remodelling and is important in the processes of cell proliferation and differentiation. When mutated both CREBBP or EP300 are associated with reduced acetylation of histone (H3) and non-histone proteins, and this is believed to activate the B-cell and T-cell transcription factor BCL6, and repress the tumour suppressor p53.

NGS panel gene coverage

The panel covers the whole gene (Chr. 22q13.2)

Occurrence:and significance

Marginal Zone Lymphoma (1-19% of cases)
Prognostic significance is unclear
Follicular lymphoma (11-20% of cases)
Forms part of the m7-FLIPI prognostic score as an adverse factor
Burkitt’s Lymphoma (1-10% of cases)
Prognostic significance is unclear
GCB-DLBCL (1-10%)
May show adverse prognosis
ABC-DLBCL (1-10%)
May show adverse prognosis
Adult T cell Leukaemia Lymphoma (1-10%)
Prognostic significance is unclear


GeneWiki link:
Gene Wiki entry for EP300
1. Prognosis and occurence in DLBCL
2. m7-FLIPI
3. Discussion of m7-FLIPI