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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 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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Metadata
- 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 › Oncology › 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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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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