BCOR involvement in cancer

Epigenomics. 2019 May;11(7):835-855. doi: 10.2217/epi-2018-0195. Epub 2019 May 31.


BCOR is a gene that encodes for an epigenetic regulator involved in the specification of cell differentiation and body structure development and takes part in the noncanonical polycomb repressive complex 1. This review provides a comprehensive summary of BCOR's involvement in oncology, illustrating that various BCOR aberrations, such as the internal tandem duplications of the PCGF Ub-like fold discriminator domain and different gene fusions (mainly BCOR-CCNB3, BCOR-MAML3 and ZC3H7B-BCOR), represent driver elements of various sarcomas such as clear cell sarcoma of the kidney, primitive mesenchymal myxoid tumor of infancy, small round blue cell sarcoma, endometrial stromal sarcoma and histologically heterogeneous CNS neoplasms group with similar genomic methylation patterns known as CNS-HGNET-BCOR. Furthermore, other BCOR alterations (often loss of function mutations) recur in a large variety of mesenchymal, epithelial, neural and hematological tumors, suggesting a central role in cancer evolution.

Keywords: BCOR; CCSK; CNS-HGNET-BCOR; ESS; ITD; PRC1.1; PRC2; SRBCS; epigenetics; oncogenesis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Central Nervous System Neoplasms / genetics
  • Central Nervous System Neoplasms / pathology
  • Cyclin B / genetics
  • Humans
  • Mutation
  • Neoplasms / genetics
  • Neoplasms / pathology*
  • Polycomb Repressive Complex 1 / genetics
  • Polycomb Repressive Complex 1 / metabolism
  • Proto-Oncogene Proteins / genetics*
  • RNA-Binding Proteins / genetics
  • Repressor Proteins / genetics*
  • Sarcoma / genetics
  • Sarcoma / pathology
  • Trans-Activators / genetics


  • BCOR protein, human
  • CCNB3 protein, human
  • Cyclin B
  • MAML3 protein, human
  • Proto-Oncogene Proteins
  • RNA-Binding Proteins
  • Repressor Proteins
  • Trans-Activators
  • ZC3H7B protein, human
  • Polycomb Repressive Complex 1