Journal
EPIGENOMICS
Volume 11, Issue 7, Pages 835-855Publisher
FUTURE MEDICINE LTD
DOI: 10.2217/epi-2018-0195
Keywords
BCOR; CCSK; CNS-HGNET-BCOR; epigenetics; ESS; ITD; oncogenesis; PRC1.1; PRC2; SRBCS
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Funding
- Associazione Margherita Onlus
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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.
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