Gene affected:
BCOR - BCL6 corepressor

Clinical significance
There is evidence that mutations affecting BCOR may confer adverse outcome in AML and MDS and that despite their low frequency they should be considered in risk stratification

Function of gene

BCOR (BCL6 co‐repressor gene) is a transcription regulatory factor with suppressant action on myeloid cell proliferation and differentiation

NGS panel gene coverage

Exons covered: full gene

In MDS, somatic BCOR mutations appear to arise after mutations in genes involved in splicing or epigenetic regulation. BCOR mutations include nonsense, frameshift, insertion/deletion, and consensus splice-site lesions

Occurrence:and significance

MDS (!4%)
Associated with adverse outcome.
CMML (7.5%)
Significance unclear
AML (4%)
Associated with adverse outcome

Associated genetic features:

  • Lesions affecting BCOR may accompany mutations affecting DNMT3A and RUNX1 – these mutations have been detected in 43.5% and 44.4% patients with BCOR-mutated AML respectively
  • There is a negative association between the occurrence of BCOR mutation and the presence of NPM1 mutation in AML


GeneWiki link:

Gene Wiki entry for BCOR


1. Describes role of BCOR in MDS
2. Describes role of BCOR in AML
3. Describes the association of BCOR with aplastic anaemia