• What is BCOR?
  • BCOR in Myelodysplastic Syndromes
  • Clinical Trials


BCL6 corepressor (BCOR) is a gene that encodes a protein of the same name. BCOR is a member of the ankyrin repeat domain containing gene family. The corepressor expressed by BCOR binds to BCL6, a DNA-binding protein that acts as a transcription repressor for genes involved in regulation of B cells, a type of immune cell (Gene 2014a, 2014b; Genetics Home Reference 2014). In cancer, BCOR mutations have been observed in myelodysplastic syndromes, endometrial cancer, and other cancers.​

Contributors: Stephen A. Strickland, M.D., MSCI, Annette S. Kim, M.D., Ph.D.

Suggested Citation: Strickland, S., A. Kim. 2014. BCOR. My Cancer Genome https://www.padiracinnovation.org/content/disease/myelodysplastic-syndromes/bcor/?tab=0 (Updated September 23).

Last Updated: September 23, 2014

BCOR in Myelodysplastic Syndromes

BCOR mutations occur in 2.8–4.2% of MDS (COSMIC; Damm et al. 2013). BCOR mutations are most often observed in refractory cytopenia with multilineage dysplasia (RCMD) and refractory anemia with excess blasts (RAEB), two subtypes of high risk MDS (Cazzola, Della Porta, and Malcovati 2013). BCOR mutations tend to co-occur with RUNX1 or DNMT3A mutations (Damm et al. 2013). The role of BCOR mutations in cancer is not yet understood; however, BCOR mutations tend to be frameshift or nonsense mutations (COSMIC; Tiacci et al. 2012) and are located throughout the gene (Damm et al. 2013). This and other features have led to the hypothesis that BCOR mutations result in the loss of function of a tumor suppressor gene (Tiacci et al. 2012).

BCOR mutations are a prognostic biomarker, associated with shorter overall survival and higher likelihood of transformation to AML (Damm et al. 2013).​

Contributors: Stephen A. Strickland, M.D., MSCI, Annette S. Kim, M.D., Ph.D.

Suggested Citation: Strickland, S., A. Kim. 2014. BCOR in Myelodysplastic Syndromes. My Cancer Genome https://www.padiracinnovation.org/content/disease/myelodysplastic-syndromes/bcor/ (Updated September 23).

Last Updated: September 23, 2014

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