BCOR Involvement in Cancer
Open accessAbstract
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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Substantial genomic variation has been observed specifically in hiPSCs, particularly BCOR mutations involved in many cancers.
“Substantial genomic variation has also been observed specifically in hiPSCs,167 particularly for BCOR mutations that are involved in many cancers.168”
From Developments in stem cell-derived islet replacement therapy for treating type 1 diabetes (2023) · cites this paper as [168]
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BCOR abnormalities in endometrial stromal sarcoma
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- Authors
- Astolfi, A., Fiore, M., Melchionda, F., Indio, V., Bertuccio, S. N., & Pession, A.
- Affiliations
- University of Bologna (IT)
- IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola (IT)
- Corresponding author
- Melchionda, Fraia
- ORCID
- Venue
- Epigenomics
- Publisher
- Informa UK Limited
- Published
- 2019-05
- Volume
- 11
- Issue
- 7
- Pages
- 835-855
- ISSN
- 1750-1911 (ISSN-L)
- 1750-192X
- PMC
- PMC6595546
- OpenAlex
- W2947821414
- Cited by
- 183
- References
- 159
- Citations by year
- 2026: 11 · 2025: 27 · 2024: 31 · 2023: 23 · 2022: 29 · 2021: 30 · 2020: 31 · 2019: 1
- FWCI
- 2.05
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Epigenomics (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) (submittedVersion, cc-by-nc-nd)
- Institutional Research Information System University of Ferrara (University of Ferrara) (submittedVersion, other-oa)
- Funders
- memory of Maestro Claudio Abbado and by Associazione Margherita Onlus
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Sarcoma Diagnosis and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Keywords
- BCOR, PRC1, epigenetic regulation, internal tandem duplication, clear cell sarcoma of the kidney, endometrial stromal sarcoma, loss-of-function mutations, sarcoma, tumor evolution
- MeSH terms
- Humans, Mutation, Neoplasms, Proto-Oncogene Proteins, Repressor Proteins, Sarcoma, Trans-Activators, Central Nervous System Neoplasms, RNA-Binding Proteins, Cyclin B, Polycomb Repressive Complex 1
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