- Gene affected:
- BCOR - BCL6 corepressor
- Clinical significance
- There is evidence that mutations affecting BCOR may confer adverse outcome in AML and MDS and, despite their low frequency, 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
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 BCOR lesions and NPM1 mutation positive AML cases.