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BCOR

From www.haematologyetc.co.uk


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



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 BCOR lesions and NPM1 mutation positive AML cases.

Links

GeneWiki link:

Gene Wiki entry for BCOR

References:

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