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

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BCOR Involvement in Cancer

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Astolfi, Annalisa, Fiore, Michele, Melchionda, Fraia, Indio, Valentina, Bertuccio, Salvatore N, Pession, Andrea·2019·Epigenomics

DOI 10.2217/epi-2018-0195PMC PMC6595546

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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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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.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.CC BY-NC-ND · PubMed Central

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Zhang, M., Yao, X., Zhang, N., Yu, Y., Jia, C., Guan, X., Xu, W., Ni, X., Guo, Y., & He, L. (2025) · Diagnostic Pathology · doi:10.1186/s13000-025-01604-7
Systemic Cancers and Central Nervous System Involvement
Sato, M., & Crawford, J. R. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-10944-7.00154-2
Molecular pathobiology of breast fibroepithelial tumours
Lim, R. M. H., Haghani, S., Tay, H. Y., Lim, B. Y., Kannan, B., Ko, T. K., Nasir, N. D. M., Teh, B. T., Tan, P. H., & Chan, J. Y. (2025) · ESMO rare cancers. · doi:10.1016/j.esmorc.2025.100028
Embryonal Tumors
(2025) · American Registry of PathologyArlington, Virginia eBooks · doi:10.55418/9781933477640-ch10
Isocitrate Dehydrogenase-Mutant WHO Grade 4 Astrocytoma with BCOR Alteration: Case Report
Kurdi, M. E., Alkhotani, A., Hafiz, B., Faizo, E., Okal, F. M., Albeshri, A. S., Najjar, A. A., Alghefari, H., Mrair, F., & Baeesa, S. S. (2025) · Case Reports in Oncology · doi:10.1159/000548555
A Rare BCOR- ITD Musculoskeletal Sarcoma in an Adult Male Patient
Rekhi, B., Bapat, P., Gurav, M., & Shetty, O. A. (2025) · International Journal of Surgical Pathology · doi:10.1177/10668969251397645
Additional file 1 of Fusions involving BCOR and CREBBP are rare events in infiltrating glioma
Pisapia, D. J., Ohara, K., Bareja, R., Wilkes, D. C., Hissong, E., Croyle, J. A., Kim, J.-H., Saab, J., MacDonald, T. Y., Beg, S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.12421433
Additional file 2 of Diffuse leptomeningeal glioneuronal tumour (DLGNT) in children: the emerging role of genomic analysis
Manoharan, N., Ajuyah, P., Senapati, A., Wong, M., Mullins, A., Rodriguez, M., Doyle, H. J., McCowage, G., Lau, L. M. S., Ekert, P. G., et al. (2021) · Figshare · doi:10.6084/m9.figshare.16584258
Additional file 1 of BCOR::CREBBP fusion in malignant neuroepithelial tumor of CNS expands the spectrum of methylation class CNS tumor with BCOR/BCOR(L1)-fusion
Ebrahimi, A., Waha, A., Schittenhelm, J., Gohla, G., Schuhmann, M. U., & Pietsch, T. (2024) · Figshare · doi:10.6084/m9.figshare.26708555
Additional file 1 of Dynamics of epigenetic regulator gene BCOR mutation and response predictive value for hypomethylating agents in patients with myelodysplastic syndrome
Li, X., Xu, F., Zhang, Z., Guo, J., He, Q., Song, L., Wu, D., Zhou, L.-Y., Jiying, S. U., Xiao, C., et al. (2021) · Figshare · doi:10.6084/m9.figshare.16544172
Additional file 3 of Fusions involving BCOR and CREBBP are rare events in infiltrating glioma
Pisapia, D. J., Ohara, K., Bareja, R., Wilkes, D. C., Hissong, E., Croyle, J. A., Kim, J.-H., Saab, J., MacDonald, T. Y., Beg, S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.12421457
Additional file 2 of BCOR::CREBBP fusion in malignant neuroepithelial tumor of CNS expands the spectrum of methylation class CNS tumor with BCOR/BCOR(L1)-fusion
Ebrahimi, A., Waha, A., Schittenhelm, J., Gohla, G., Schuhmann, M. U., & Pietsch, T. (2024) · Figshare · doi:10.6084/m9.figshare.26708558
Additional file 2 of Fusions involving BCOR and CREBBP are rare events in infiltrating glioma
Pisapia, D. J., Ohara, K., Bareja, R., Wilkes, D. C., Hissong, E., Croyle, J. A., Kim, J.-H., Saab, J., MacDonald, T. Y., Beg, S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.12421448
Additional file 4 of Fusions involving BCOR and CREBBP are rare events in infiltrating glioma
Pisapia, D. J., Ohara, K., Bareja, R., Wilkes, D. C., Hissong, E., Croyle, J. A., Kim, J.-H., Saab, J., MacDonald, T. Y., Beg, S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.12421466
Additional file 3 of BCOR::CREBBP fusion in malignant neuroepithelial tumor of CNS expands the spectrum of methylation class CNS tumor with BCOR/BCOR(L1)-fusion
Ebrahimi, A., Waha, A., Schittenhelm, J., Gohla, G., Schuhmann, M. U., & Pietsch, T. (2024) · Figshare · doi:10.6084/m9.figshare.26708561
A Rapidly Growing Cervical Tumor in an Infant: Sarcoma with BCOR Gene Alterations
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Les tumeurs du rein pédiatriques : mise à jour sur les défis du néphroblastome et des autres tumeurs du rein
L’Herminé, A. C., & Berrebi, D. D. (2026) · Annales de Pathologie · doi:10.1016/j.annpat.2026.02.011
Etude de nouvelles cibles thérapeutiques dans les lymphomes compliquant la maladie cœliaque
Berrabah, S. (2021) · doi:10.70675/81b24ebaz30e6z4f6azab55zb70f63137821
Complete Metabolic Remission in Metastatic BCOR-Altered Undifferentiated Round Cell Sarcoma Following Sequential Multimodal Therapy With Vincristine-Doxorubicin-Cyclophosphamide (VDC) Chemotherapy and Pazopanib Maintenance: A Case Report
Chaudhary, Y., Kapoor, V., Khanna, G., Anand, M., & Goyal, Y. (2026) · Cureus · doi:10.7759/cureus.107430
Next-Generation Sequencing in Malignant Mesenchymal Tumors
Sioletic, S., Bellan, E., & Cin, P. D. (2026) · Current clinical pathology · doi:10.1007/978-3-032-18790-1_7
Proteome-wide Ubiquitinome Profiling Reveals Substrate-specific Dynamics Within the USP7 Network
van der Meer, J. W., van der Knaap, J. A., Sijm, A., Bezstarosti, K., Dekkers, D. H. W., Doff, W. A. S., Demmers, J., & Verrijzer, C. P. (2026) · Molecular & Cellular Proteomics · doi:10.1016/j.mcpro.2026.101602
Epigenetics and DNA Base Substitutions of Epstein–Barr Virus (EBV)-Related Gastric Cancers: Implications for Targeted Therapies
Voutsadakis, I. A. (2026) · Genes · doi:10.3390/genes17070769
Recurrent aneurysmal fibrous histiocytoma of the breast with malignant features: a rare case report
Xiao, K., Zhang, N., Li, Q., & Liu, Q. (2026) · Frontiers in Oncology · doi:10.3389/fonc.2026.1899426
Rapid transformation of low-grade endometrial stromal sarcoma to BCOR-rearranged high-grade endometrial stromal sarcoma in a patient with Birt–Hogg–Dubé syndrome: A case report
Ohkubo, E., Eguchi, S., Tsuchiya, H., Matsuyama, R., Fujimoto, A., Nishii, O., Aso, T., & Takahashi, M. (2026) · Gynecologic Oncology Reports · doi:10.1016/j.gore.2026.102238

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: Astolfi, Annalisa
Fiore, Michele
Melchionda, Fraia
Indio, Valentina
Bertuccio, Salvatore N
Pession, Andrea
Venue: Epigenomics
Publisher: Informa UK Limited
Published: 2019-05
Volume: 11
Issue: 7
Pages: 835-855
ISSN: 1750-1911 (ISSN-L)
1750-192X
DOI: 10.2217/epi-2018-0195
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: cc-by-nc-nd
creativecommons.org/licenses/by-nc-nd/4.0/ (vor)
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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