Cited by 186Chromatin Remodeling and CancerSarcoma Diagnosis and TreatmentEpigenetics and DNA Methylation

The DOI matches its Crossref record; 158 of the 159 references it cites were found in a registry or an index.

BCOR Involvement in Cancer

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Abstract

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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Crossref · 10.2217/epi-2018-0195

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Figures

Figure 1. Structure and functional domains of BCOR, including BCL-6- and MLLT3-binding domains, ANK repeats and the PUFD domain. A schematic representation of the exon structure is also shown below the protein domains.
Figure 1. Structure and functional domains of BCOR, including BCL-6- and MLLT3-binding domains, ANK repeats and the PUFD domain. A schematic representation of the exon structure is also shown below the protein domains.CC BY-NC-ND · PubMed Central
Figure 2. Schematic representation of the polycomb repressive complex 1.1 model. The core complex is composed of the catalytic enzyme RING1A/B that forms a dimer with PCGF1 through the RING finger domains, and that deposits an ubiquitin moiety to histone H2A at Lys119 (H2AK119ub). BCOR binds to PCGF1 by means of its PUFD domain, while RYBP is bound to the RAWUL domain of RING1A/B. Recruitment to chromatin is due to KDM2B that recognizes nonmethylated CpG islands by its CXXC-binding domain. Other members of the complex are SKP1, that associates with KDM2B, and USP7, acting as a deubiquitinating enzyme. PUFD: PCGF Ub-like fold discriminator.
Figure 2. Schematic representation of the polycomb repressive complex 1.1 model. The core complex is composed of the catalytic enzyme RING1A/B that forms a dimer with PCGF1 through the RING finger domains, and that deposits an ubiquitin moiety to histone H2A at Lys119 (H2AK119ub). BCOR binds to PCGF1 by means of its PUFD domain, while RYBP is bound to the RAWUL domain of RING1A/B. Recruitment to chromatin is due to KDM2B that recognizes nonmethylated CpG islands by its CXXC-binding domain. Other members of the complex are SKP1, that associates with KDM2B, and USP7, acting as a deubiquitinating enzyme. PUFD: PCGF Ub-like fold discriminator.CC BY-NC-ND · PubMed Central
Figure 3. Schematic representation of different BCOR alterations, including internal tandem duplications and chimeric fusion transcripts. The numbers inside the boxes represent the exons, while open boxes indicate UTR regions. (A) ITD–BCOR, (B) BCOR–CCNB3, (C) BCOR–MAML3, (D) ZC3H7B–BCOR and (E) BCOR–RARA. ITD: Internal tandem duplication.
Figure 3. Schematic representation of different BCOR alterations, including internal tandem duplications and chimeric fusion transcripts. The numbers inside the boxes represent the exons, while open boxes indicate UTR regions. (A) ITD–BCOR, (B) BCOR–CCNB3, (C) BCOR–MAML3, (D) ZC3H7B–BCOR and (E) BCOR–RARA. ITD: Internal tandem duplication.CC BY-NC-ND · PubMed Central

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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
Venue
Epigenomics
Published
2019-05
Volume
11
Issue
7
Pages
835-855
ISSN
  • 1750-1911 (ISSN-L)
  • 1750-192X
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
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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