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

Open access

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

DOI 10.2217/epi-2018-0195PMC PMC6595546

Open this paper in CoChat — free account Open PDF

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.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.2217/epi-2018-0195

Cites

158 of 158 references verified0 citation errors · 0 not checkable

Statistics

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

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary
Louis, D. N., Perry, A., Reifenberger, G., von Deimling, A., Figarella‐Branger, D., Cavenee, W. K., Ohgaki, H., Wiestler, O. D., Kleihues, P., & Ellison, D. W. (2016) · Acta Neuropathologica · doi:10.1007/s00401-016-1545-1 · Cited by 15,703
The 2007 WHO Classification of Tumours of the Central Nervous System
Louis, D. N., Ohgaki, H., Wiestler, O. D., Cavenee, W. K., Burger, P. C., Jouvet, A., Scheithauer, B. W., & Kleihues, P. (2007) · Acta Neuropathologica · doi:10.1007/s00401-007-0243-4 · Cited by 15,675
Frequent pathway mutations of splicing machinery in myelodysplasia
Yoshida, K., Sanada, M., Shiraishi, Y., Nowak, D., Nagata, Y., Yamamoto, R., Sato, Y., Sato-Otsubo, A., Kon, A., Nagasaki, M., et al. (2011) · Nature · doi:10.1038/nature10496 · Cited by 2,029
Landscape of genetic lesions in 944 patients with myelodysplastic syndromes
Haferlach, T., Nagata, Y., Grossmann, V, Okuno, Y., Bacher, U., Nagae, G., Schnittger, S., Sanada, M., Kon, A., Alpermann, T., et al. (2014) · Leukemia · doi:10.1038/leu.2013.336 · Cited by 1,532
Evolution and impact of subclonal mutations in chronic lymphocytic leukemia
Landau, D. A., Carter, S. L., Stojanov, P., McKenna, A., Stevenson, K., Lawrence, M. S., Sougnez, C., Stewart, C., Sivachenko, A., Wang, L., et al. (2013) · Cell · doi:10.1016/j.cell.2013.01.019 · Cited by 1,379
Polycomb silencers control cell fate, development and cancer
Sparmann, A., & van Lohuizen, M. (2006) · Nature reviews. Cancer · doi:10.1038/nrc1991 · Cited by 1,339
Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma
Mackay, A., Burford, A., Carvalho, D., Izquierdo, E., Fazal-Salom, J., Taylor, K. R., Bjerke, L., Clarke, M., Vinci, M., Nandhabalan, M., et al. (2017) · Cancer Cell · doi:10.1016/j.ccell.2017.08.017 · Cited by 1,212
Genome Regulation by Polycomb and Trithorax: 70 Years and Counting
Schuettengruber, B., Bourbon, H.-M., Di Croce, L., & Cavalli, G. (2017) · Cell · doi:10.1016/j.cell.2017.08.002 · Cited by 1,094
Molecular subgroups of medulloblastoma: an international meta-analysis of transcriptome, genetic aberrations, and clinical data of WNT, SHH, Group 3, and Group 4 medulloblastomas
Kool, M., Korshunov, A., Remke, M., Jones, D., Schlanstein, M., Northcott, P. A., Cho, Y., Köster, J., Meeteren, A. Y. N. S., van Vuurden, D. G., et al. (2012) · Acta Neuropathologica · doi:10.1007/s00401-012-0958-8 · Cited by 1,057
New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs
Sturm, D., Orr, B. A., Toprak, U. H., Hovestadt, V., Jones, D., Capper, D., Sill, M., Buchhalter, I., Northcott, P. A., Irina, L., et al. (2016) · Cell · doi:10.1016/j.cell.2016.01.015 · Cited by 991

Show all 159 references

Sorted by citations

The epigenomics of sarcoma
Nacev, B. A., Jones, K. B., Intlekofer, A. M., Yu, J., Allis, C. D., Tap, W. D., Ladanyi, M., & Nielsen, T. O. (2020) · Nature reviews. Cancer · doi:10.1038/s41568-020-0288-4 · Cited by 214
Developments in stem cell-derived islet replacement therapy for treating type 1 diabetes
Hogrebe, N. J., Ishahak, M., & Millman, J. R. (2023) · Cell Stem Cell · doi:10.1016/j.stem.2023.04.002 · Cited by 210
Epstein–Barr virus-associated gastric cancer: A distinct subtype
Yang, J., Liu, Z., Zeng, B., Hu, G., & Gan, R. (2020) · Cancer Letters · doi:10.1016/j.canlet.2020.09.019 · Cited by 205
Mechanisms of Polycomb group protein function in cancer
Parreno, V., Martinez, A., & Cavalli, G. (2022) · Cell Research · doi:10.1038/s41422-021-00606-6 · Cited by 158
Bioorthogonal PROTAC Prodrugs Enabled by On-Target Activation
Chang, M., Gao, F., Pontigon, D., Gnawali, G. R., Xu, H., & Wang, W. (2023) · Journal of the American Chemical Society · doi:10.1021/jacs.3c05159 · Cited by 153
Oncogenetic landscape of lymphomagenesis in coeliac disease
Cording, S., Lhermitte, L., Malamut, G., Berrabah, S., Trinquand, A., Guégan, N., Villarèse, P., Kaltenbach, S., Meresse, B., Khater, S., et al. (2021) · Gut · doi:10.1136/gutjnl-2020-322935 · Cited by 105
Harnessing cellular therapeutics for type 1 diabetes mellitus: progress, challenges, and the road ahead
Grattoni, A., Korbutt, G., Tomei, A. A., García, A. J., Pepper, A. R., Stabler, C., Brehm, M., Papas, K., Citro, A., Shirwan, H., et al. (2025) · Nature Reviews Endocrinology · doi:10.1038/s41574-024-01029-0 · Cited by 92
BCOR gene alterations in hematologic diseases
Sportoletti, P., Sorcini, D., & Falini, B. (2021) · Blood · doi:10.1182/blood.2021010958 · Cited by 67
Erythrocytosis in the general population: clinical characteristics and association with clonal hematopoiesis
Wouters, H. J. C. M., Mulder, R., van Zeventer, I. A., Schuringa, J. J., van der Klauw, M. M., van der Harst, P., Diepstra, A., Mulder, A. B., & Huls, G. A. (2020) · Blood Advances · doi:10.1182/bloodadvances.2020003323 · Cited by 66
Genomic profiling of BCOR-rearranged uterine sarcomas reveals novel gene fusion partners, frequent CDK4 amplification and CDKN2A loss
Lin, D. I., Hemmerich, A. C., Edgerly, C. I., Duncan, D. L., Severson, E. A., Huang, R. S. P., Ramkissoon, S. H., Connor, Y., Shea, M., Hecht, J. L., et al. (2020) · Gynecologic Oncology · doi:10.1016/j.ygyno.2020.02.024 · Cited by 66
The Biology of Synovial Sarcoma: State-of-the-Art and Future Perspectives
Fiore, M., Sambri, A., Spinnato, P., Zucchini, R., Giannini, C., Caldari, E., Pirini, M. G., & PAOLIS, M. D. (2021) · Current Treatment Options in Oncology · doi:10.1007/s11864-021-00914-4 · Cited by 61
Self-citation
Molecular Changes in Retinoblastoma beyond RB1: Findings from Next-Generation Sequencing
Francis, J. H., Richards, A. L., Mandelker, D. L., Berger, M. F., Walsh, M. F., Dunkel, I. J., Donoghue, M. T. A., & Abramson, D. H. (2021) · Cancers · doi:10.3390/cancers13010149 · Cited by 57
Targeted RNA expression profiling identifies high-grade endometrial stromal sarcoma as a clinically relevant molecular subtype of uterine sarcoma
Boroujeni, A. M., Mohammad, N., Wolber, R. A., Yip, S. S. F., Köbel, M., Dickson, B. C., Hensley, M. L., Leitão, M. M., Antonescu, C. R., Benayed, R., et al. (2020) · Modern Pathology · doi:10.1038/s41379-020-00705-6 · Cited by 57
Pharmacological targeting of the cancer epigenome
Mabe, N. W., Perry, J. A., Malone, C. F., & Stegmaier, K. (2024) · Nature Cancer · doi:10.1038/s43018-024-00777-2 · Cited by 61
Classic and Variants APLs, as Viewed from a Therapy Response
Geoffroy, M., & de Thé, H. (2020) · Cancers · doi:10.3390/cancers12040967 · Cited by 57
Molecular pathogenesis and prognostication of "low‐grade'' and "high‐grade" endometrial stromal sarcoma
Micci, F., Heim, S., & Panagopoulos, I. (2020) · Genes Chromosomes and Cancer · doi:10.1002/gcc.22907 · Cited by 44
Diagnostic classification of childhood cancer using multiscale transcriptomics
Comitani, F., Nash, J. O., Cohen‐Gogo, S., Chang, A. I., Wen, T. T., Maheshwari, A., Goyal, B., Tio, E. S., Tabatabaei, K., Mayoh, C., et al. (2023) · Nature Medicine · doi:10.1038/s41591-023-02221-x · Cited by 48
Atypical Rearrangements in APL-Like Acute Myeloid Leukemias: Molecular Characterization and Prognosis
Guarnera, L., Ottone, T., Fabiani, E., Divona, M., Savi, A., Travaglini, S., Falconi, G., Panetta, P., Rapanotti, M. C., & Voso, M. T. (2022) · Frontiers in Oncology · doi:10.3389/fonc.2022.871590 · Cited by 40
Functional loss of a noncanonical BCOR–PRC1.1 complex accelerates SHH-driven medulloblastoma formationPreprint
Kutscher, L. M., Okonechnikov, K., Batora, N. V., Clark, J., Silva, P. B. G., Vouri, M., van Rijn, S., Sieber, L., Statz, B., Gearhart, M. D., et al. (2020) · Genes & Development · doi:10.1101/gad.337584.120 · Cited by 34
MED12, TERT and RARA in fibroepithelial tumours of the breast
Chang, H. Y., Koh, V. C. Y., Nasir, N. D. M., Ng, C. C. Y., Guan, P., Thike, A. A., Teh, B. T., & Tan, P. H. (2019) · Journal of Clinical Pathology · doi:10.1136/jclinpath-2019-206208 · Cited by 32
Identification and Validation of a Novel DNA Damage and DNA Repair Related Genes Based Signature for Colon Cancer Prognosis
Wang, X., Xu, S.-W., Wang, W. T., Piao, S., Mao, X., Zhou, X.-B., Wang, Y., Wu, W., Ye, L., & Li, S.-W. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.635863 · Cited by 31
Superficial malignant ossifying fibromyxoid tumors harboring the rare and recently described ZC3H7B‐BCOR and PHF1‐TFE3 fusions
Linos, K. D., Kerr, D. A., Baker, M. L., Wong, S. L., Henderson, E. R., Sümegi, J., & Bridge, J. A. (2020) · Journal of Cutaneous Pathology · doi:10.1111/cup.13728 · Cited by 31
Central nervous system high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR)—case-based reviews
Lima, L. D., Sürme, M. B., Gessi, M., Mastronuzzi, A., Miele, E., Tamburrini, G., & Massimi, L. (2020) · Child s Nervous System · doi:10.1007/s00381-020-04692-6 · Cited by 31
Global activation of oncogenic pathways underlies therapy resistance in diffuse midline glioma
Georgescu, M., Islam, M. Z., Li, Y., Circu, M. L., Traylor, J. G., Notarianni, C., Kline, C., & Burns, D. K. (2020) · Acta Neuropathologica Communications · doi:10.1186/s40478-020-00992-9 · Cited by 32
Somatic mutations alter the differentiation outcomes of iPSC-derived neurons
Puigdevall, P., Jerber, J., Danecek, P., Castellano, S., & Kilpinen, H. (2023) · Cell Genomics · doi:10.1016/j.xgen.2023.100280 · Cited by 29
Comprehensive analyses of prognostic biomarkers and immune infiltrates among histone lysine demethylases (KDMs) in hepatocellular carcinoma
Qu, L.-H., Fang, Q., Yin, T., Yi, H.-M., Mei, G., Hong, Z.-Z., Qiu, X., Zhou, R., & Dong, H. (2022) · Cancer Immunology Immunotherapy · doi:10.1007/s00262-022-03167-8 · Cited by 29
Fusions involving BCOR and CREBBP are rare events in infiltrating glioma
Pisapia, D. J., Ohara, K., Bareja, R., Wilkes, D. C., Hissong, E. M., Croyle, J. A., Kim, J. H., Saab, J., MacDonald, T. Y., Beg, S., et al. (2020) · Acta Neuropathologica Communications · doi:10.1186/s40478-020-00951-4 · Cited by 28
Meta-analysis of BCOR rearranged sarcomas: challenging the therapeutic approach
Kyriazoglou, A. I., & Bagos, P. G. (2021) · Acta Oncologica · doi:10.1080/0284186x.2021.1890818 · Cited by 26
High-Grade Endometrial Stromal Sarcoma: Molecular Alterations and Potential Immunotherapeutic Strategies
Kim, Y., Kim, D., Sung, W. J., & Hong, J. (2022) · Frontiers in Immunology · doi:10.3389/fimmu.2022.837004 · Cited by 27
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. J., Doyle, H. J., McCowage, G. B., Lau, L. M. S., Ekert, P. G., et al. (2021) · Acta Neuropathologica Communications · doi:10.1186/s40478-021-01248-w · Cited by 25
USP7 regulates the ncPRC1 Polycomb axis to stimulate genomic H2AK119ub1 deposition uncoupled from H3K27me3
Sijm, A., Atlasi, Y., van der Knaap, J. A., van der Meer, J. W., Chalkley, G. E., Bezstarosti, K., Dekkers, D. H. W., Doff, W. A. S., Özgür, Z., van IJcken, W. F. J., et al. (2022) · Science Advances · doi:10.1126/sciadv.abq7598 · Cited by 25
Unlocking the Potential: Epstein-Barr Virus (EBV) in Gastric Cancer and Future Treatment Prospects, a Literature Review
Corallo, S., Lasagna, A., Filippi, B., Alaimo, D., Tortorella, A., Serra, F., Vanoli, A., & Pedrazzoli, P. (2024) · Pathogens · doi:10.3390/pathogens13090728 · Cited by 27
Polycomb group proteins in cancer: multifaceted functions and strategies for modulation
Wang, S. P., Ordonez‐Rubiano, S. C., Dhiman, A., Jiao, G., Strohmier, B. P., Krusemark, C. J., & Dykhuizen, E. C. (2021) · NAR Cancer · doi:10.1093/narcan/zcab039 · Cited by 27
Pediatric BCOR-Altered Tumors From Soft Tissue/Kidney Display Specific DNA Methylation Profiles
Salgado, C. M., Alaggio, R., Ciolfi, A., Zin, A., Diomedi‐Camassei, F., Pedace, L., Milano, G. M., Serra, A., Giannatale, A. D., Mastronuzzi, A., et al. (2023) · Modern Pathology · doi:10.1016/j.modpat.2022.100039 · Cited by 22
Structure and Role of BCOR PUFD in Noncanonical PRC1 Assembly and Disease
Wong, S. J., Senkovich, O., Artigas, J. A., Gearhart, M. D., Ilangovan, U., Graham, D. W., Abel, K. N., Yu, T., Hinck, A. P., Bardwell, V. J., et al. (2020) · Biochemistry · doi:10.1021/acs.biochem.0c00285 · Cited by 22
Molecular and clinicopathologic characteristics of gliomas with EP300::BCOR fusions
Wu, Z., Rajan, S., Chung, H., Raffeld, M. A., Selvam, P., Schweizer, L., Perry, A., Samuel, D., Giannini, C., Ragunathan, A., et al. (2022) · Acta Neuropathologica · doi:10.1007/s00401-022-02508-2 · Cited by 21
Soft Tissue and Visceral Organ Sarcomas With BCOR Alterations
Whittle, S. B., Fetzko, S., Roy, A., & Venkatramani, R. (2022) · Journal of Pediatric Hematology/Oncology · doi:10.1097/mph.0000000000002480 · Cited by 20
Fusion genes in gynecologic tumors: the occurrence, molecular mechanism and prospect for therapy
Lu, B., Jiang, R., Xie, B., Wu, W., & Zhao, Y. (2021) · Cell Death and Disease · doi:10.1038/s41419-021-04065-0 · Cited by 21
Update on Uterine Mesenchymal Neoplasms
Kertowidjojo, E. C., & Bennett, J. A. (2022) · Surgical pathology clinics · doi:10.1016/j.path.2022.02.008 · Cited by 20
Mutation-based clustering and classification analysis reveals distinctive age groups and age-related biomarkers for glioma
Jean-Quartier, C., Jeanquartier, F., Ridvan, A., Kargl, M., Mirza, T., Stangl, T., Markaĉ, R., Jurada, M., & Holzinger, A. (2021) · BMC Medical Informatics and Decision Making · doi:10.1186/s12911-021-01420-1 · Cited by 19
Critical Roles of Polycomb Repressive Complexes in Transcription and Cancer
Dong, G., Xu, J., Qi, Y.-R., Yuan, Z., & Zhao, W. H. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23179574 · Cited by 21
Epigenetic Features in Uterine Leiomyosarcoma and Endometrial Stromal Sarcomas: An Overview of the Literature
de Almeida, B. C., dos Anjos, L. G., Dobroff, A. S., Baracat, E. C., Yang, Q., Al-Hendy, A. A., & Carvalho, K. C. (2022) · Biomedicines · doi:10.3390/biomedicines10102567 · Cited by 19
HELZ2: a new, interferon-regulated, human 3′-5′ exoribonuclease of the RNB family is expressed from a non-canonical initiation codon
Huntzinger, E., Sinteff, J., Morlet, B., & Séraphin, B. (2023) · Nucleic Acids Research · doi:10.1093/nar/gkad673 · Cited by 19
SARCP, a Clinical Next-Generation Sequencing Assay for the Detection of Gene Fusions in Sarcomas
Atiq, M. A., Balan, J., Blackburn, P. R., Gross, J. M., Voss, J. S., Jin, L. G., Fadra, N., Davila, J. I., Pitel, B. A., Terra, S. B. S. P., et al. (2024) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2024.10.004 · Cited by 18
Bcor deficiency perturbs erythro-megakaryopoiesis and cooperates with Dnmt3a loss in acute erythroid leukemia onset in mice
Sportoletti, P., Sorcini, D., Guzman, A. G., Reyes, J. M., Stella, A., Marra, A., Sartori, S., Brunetti, L., Rossi, R., Papa, B. D., et al. (2020) · Leukemia · doi:10.1038/s41375-020-01075-3 · Cited by 18
Loss-of-function mutations in BCOR contribute to chemotherapy resistance in acute myeloid leukemia
Honda, A., Koya, J., Yoshimi, A., Miyauchi, M., Taoka, K., Kataoka, K., Arai, S., & Kurokawa, M. (2021) · Experimental Hematology · doi:10.1016/j.exphem.2021.07.005 · Cited by 18
Pediatric Renal Tumors
Treece, A. L. (2020) · Surgical pathology clinics · doi:10.1016/j.path.2020.08.003 · Cited by 17
CNS tumor with BCOR internal tandem duplication: Clinicopathologic, molecular characteristics and prognosis factors
Wang, R., Guan, W., Qiao, M., Zhang, Y., Zhang, M., Wang, K., Wang, Y., & Wang, L. (2022) · Pathology - Research and Practice · doi:10.1016/j.prp.2022.153995 · Cited by 16
Evaluation and Diagnosis of Central Nervous System Embryonal Tumors (Non-Medulloblastoma)
Cotter, J. A., & Judkins, A. R. (2022) · Pediatric and Developmental Pathology · doi:10.1177/10935266211018554 · Cited by 15
Clinical outcomes of patients with CIC-rearranged sarcoma: a single institution retrospective analysis
Murphy, J., Resch, E. E., Leland, C. R., Meyer, C. F., Llosa, N. J., Gross, J. M., & Pratilas, C. A. (2024) · Journal of Cancer Research and Clinical Oncology · doi:10.1007/s00432-024-05631-7 · Cited by 15
Mutations in KMT2C, BCOR and KDM5C Predict Response to Immune Checkpoint Blockade Therapy in Non-Small Cell Lung Cancer
Liu, D., Benzaquen, J., Morris, L. G. T., Ilié, M., & Hofman, P. M. (2022) · Cancers · doi:10.3390/cancers14112816 · Cited by 16
Roles of eIF3m in the tumorigenesis of triple negative breast cancer
Han, W., Zhang, C., Shi, C.-T., Gao, X., Zhou, M.-H., Shao, Q., Shen, X., Wu, C., Cao, F., Hu, Y., et al. (2020) · Cancer Cell International · doi:10.1186/s12935-020-01220-z · Cited by 15
BCOR-coupled H2A monoubiquitination represses a subset of androgen receptor target genes regulating prostate cancer proliferation
Lempiäinen, J. K., Manjur, A. B. M. K., Malinen, M., Ketola, K., Niskanen, E. A., & Palvimo, J. J. (2020) · Oncogene · doi:10.1038/s41388-020-1153-3 · Cited by 16
LG-ESSs and HG-ESSs: underlying molecular alterations and potential therapeutic strategies
Li, C., & Wang, C. (2021) · Journal of Zhejiang University SCIENCE B · doi:10.1631/jzus.b2000797 · Cited by 14
Tumor heterogeneity in retinoblastoma: a literature review
Pallavi, R., Soni, B. L., Jha, G. K., Sanyal, S., Fatima, A., & Kaliki, S. (2025) · Cancer and Metastasis Reviews · doi:10.1007/s10555-025-10263-5 · Cited by 13
Non‐synonymous , synonymous, and non‐coding nucleotide variants contribute to recurrently altered biological processes during retinoblastoma progression
Stachelek, K., Harutyunyan, N., Lee, S., Beck, A., Kim, J. W., Xu, L., Berry, J. L., Nagiel, A., Reynolds, C. P., Murphree, A. L., et al. (2022) · Genes Chromosomes and Cancer · doi:10.1002/gcc.23120 · Cited by 14
Loss-of-Function Mutations of BCOR Are an Independent Marker of Adverse Outcomes in Intensively Treated Patients with Acute Myeloid Leukemia
Eckardt, J., Stasik, S., Krämer, M., Röllig, C., Krämer, A., Scholl, S., Hochhaus, A., Crysandt, M. M., Brümmendorf, T. H., Naumann, R., et al. (2021) · Cancers · doi:10.3390/cancers13092095 · Cited by 13
Primary bone sarcoma with BCOR internal tandem duplication
Malik, F. A., Zreik, R. T., Hedges, D. J., Nakitandwe, J., Lee, S., Ward, R. A., McCarville, M. B., Pappo, A. S., & Bahrami, A. (2020) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/s00428-019-02729-z · Cited by 13
Specific and Sensitive Diagnosis of BCOR-ITD in Various Cancers by Digital PCR
Barets, D., Appay, R., Heinisch, M., Battistella, M., Bouvier, C., Chotard, G., Loarer, F. L., Macagno, N., Perbet, R., Pissaloux, D., et al. (2021) · Frontiers in Oncology · doi:10.3389/fonc.2021.645512 · Cited by 13
Therapy-related myeloid neoplasms with different latencies: a detailed clinicopathologic analysis
Liu, Y., Illar, G. M., Amri, R. A., Canady, B. C., Rea, B. A., Yatsenko, S. A., & Geyer, J. T. (2021) · Modern Pathology · doi:10.1038/s41379-021-00958-9 · Cited by 13
Mutational profiling of lung adenocarcinoma in China detected by next-generation sequencing
Zhou, X., Xu, X., Tian, Z., Xu, W., & Cui, Y. (2020) · Journal of Cancer Research and Clinical Oncology · doi:10.1007/s00432-020-03284-w · Cited by 12
A mutation in transmembrane protein 135 impairs lipid metabolism in mouse eyecups
Landowski, M., Bhute, V. J., Takimoto, T., Grindel, S., Shahi, P. K., Pattnaik, B. R., Ikeda, S., & Ikeda, A. (2022) · Scientific Reports · doi:10.1038/s41598-021-04644-3 · Cited by 13
Mutations inBCOR, a co-repressor ofCRX/OTX2, are associated with early-onset retinal degeneration
Langouët, M., Jolicoeur, C., Javed, A., Mattar, P. A., Gearhart, M. D., Daiger, S. P., Bertelsen, M., Tranebjærg, L., Rendtorff, N. D., Grønskov, K., et al. (2022) · Science Advances · doi:10.1126/sciadv.abh2868 · Cited by 11
Molecular Signature of Biological Aggressiveness in Clear Cell Sarcoma of the Kidney (CCSK)
Fiore, M., Taddia, A., Indio, V., Bertuccio, S., Messelodi, D., Serravalle, S., Bandini, J., Spreafico, F., Perotti, D., Collini, P., et al. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24043743 · Cited by 11
Self-citation
Somatic mutations of thymic epithelial tumors with myasthenia gravis
Pardini, E., Cucchiara, F., Palumbo, S., Tarrini, G., Vita, A. D., Coppedè, F., Nicolì, V., Guida, M., Maestri, M., Ricciardi, R., et al. (2023) · Frontiers in Oncology · doi:10.3389/fonc.2023.1224491 · Cited by 11
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., Su, J., Xiao, C., et al. (2021) · Clinical Epigenetics · doi:10.1186/s13148-021-01157-8 · Cited by 11
DNA damage repair proteins across the Tree of Life
Nischwitz, E., Schoonenberg, V. A. C., Fradera-Sola, A., Dejung, M., Vydzhak, O., Levin, M., Luke, B. T., Butter, F., & Scheibe, M. (2023) · iScience · doi:10.1016/j.isci.2023.106778 · Cited by 10
Genome‐wide CRISPR/Cas9 knockout screening to mitigate cell growth inhibition induced by histone deacetylase inhibitors in recombinant CHO cells
Kim, D., Kim, S. H., Yoon, C., & Lee, G. (2023) · Biotechnology and Bioengineering · doi:10.1002/bit.28611 · Cited by 10
Pediatric Soft Tissue Tumors With BCOR ITD Express EGFR but Not OLIG2
Salgado, C. M., Zin, A., Garrido‐Pontnou, M., Kletskaya, I. S., Vito, R. D., Reyes‐Múgica, M., Bisogno, G., Donofrio, V., & Alaggio, R. (2020) · Pediatric and Developmental Pathology · doi:10.1177/1093526620945528 · Cited by 10
CNS tumors with YWHAE:NUTM2 and KDM2B-fusions present molecular similarities to extra-CNS tumors having BCOR internal tandem duplication or alternative fusions
Tauziède‐Espariat, A., Pierron, G., Guillemot, D., Bochaton, D., Watson, S., Masliah‐Planchon, J., Vasiljevic, A., Meurgey, A., Chotard, G., Hasty, L., et al. (2021) · Acta Neuropathologica Communications · doi:10.1186/s40478-021-01279-3 · Cited by 9
Detection of driver mutations and genomic signatures in endometrial cancers using artificial intelligence algorithms
Stan, A. L., Bosart, K., Kaur, M., Vo, M., Escorcia, W., Yoder, R. J., Bouley, R. A., & Petreaca, R. C. (2024) · PLoS ONE · doi:10.1371/journal.pone.0299114 · Cited by 9
Whole-exome Sequencing of Atypical Parathyroid Tumors Detects Novel and Common Genes Linked to Parathyroid Tumorigenesis
Pardi, E., Poma, A. M., Torregrossa, L., Pierotti, L., Borsari, S., Valentina, S. D., Marcocci, C., & Cetani, F. (2024) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae441 · Cited by 8
JAZF1, YWHAE and BCOR gene translocation in primary extrauterine low‐grade and high‐grade endometrial stromal sarcomas
Sun, L., Zhao, W., Zhao, Z., & Zhu, Y. (2021) · Histopathology · doi:10.1111/his.14608 · Cited by 8
Progression of prostate cancer reprograms MYC-mediated lipid metabolism via lysine methyltransferase 2A
Whitlock, N. C., White, M. E., Capaldo, B. J., Ku, A. T., Agarwal, S., Fang, L., Wilkinson, S. C., Trostel, S. Y., Shi, Z.-D., Basuli, F., et al. (2022) · Discover Oncology · doi:10.1007/s12672-022-00565-3 · Cited by 8
Functional impact of multi-omic interactions in breast cancer subtypes
Ochoa, S., & Lemus, E. H. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2022.1078609 · Cited by 9
Strategies for the Treatment of Infantile Soft Tissue Sarcomas With BCOR Alterations
Merjaneh, N., Kim, H. J., Escoto, H., Metts, J. L., Ray, A., Bukowinski, A., LeBlanc, Z., Fair, D. B., Watanbe, M., Alva, E. D., et al. (2023) · Journal of Pediatric Hematology/Oncology · doi:10.1097/mph.0000000000002620 · Cited by 8
A Case Series of BCOR Sarcomas With a New Splice Variant of BCOR/CCNB3 Fusion Gene
Kyriazoglou, A. I., Tourkantoni, N., Liontos, M., Zagouri, F., Mahaira, L. G., PAPAKOSTA, A., MICHALI, D., Patereli, A., Stefanaki, K. S., Tzotzola, V., et al. (2020) · In Vivo · doi:10.21873/invivo.12125 · Cited by 8
Somatic gene delivery faithfully recapitulates a molecular spectrum of high-risk sarcomas
Imle, R., Blösel, D., Kommoss, F. K. F., Placke, S., Stutheit-Zhao, E., Blume, C., Lupar, D., Schmitt, L., Winter, C., Wagner, L., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-60519-5 · Cited by 9
Molecular Identification and In Silico Protein Analysis of a Novel BCOR-CLGN Gene Fusion in Intrathoracic BCOR-Rearranged Sarcoma
Chien, Y.-C. C., Madarász, K., Csoma, S. L., Mótyán, J. A., Huang, H., Méhes, G., & Mokánszki, A. (2023) · Cancers · doi:10.3390/cancers15030898 · Cited by 6
Assessment of Genetic Stability in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes by Using Droplet Digital PCR
Park, J. W., Bae, S. J., Yun, J. H., Kim, S., & Park, M. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25021101 · Cited by 8
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) · Acta Neuropathologica Communications · doi:10.1186/s40478-024-01780-5 · Cited by 7
The clinical, morphological, and genetic heterogeneity of endometrial stromal sarcoma
Davidson, B., Matías‐Guiu, X., & Lax, S. (2020) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/s00428-020-02762-3 · Cited by 7
The context-dependent epigenetic and organogenesis programs determine 3D vs. 2D cellular fitness of MYC-driven murine liver cancer cells
Fang, J., Fang, J., Singh, S., Wells, B., Wu, Q., Jin, H., Janke, L., Wan, S., Steele, J. A., Connelly, J. P., et al. (2025) · eLife · doi:10.7554/elife.101299.3 · Cited by 9
Comprehensive bioinformatics analysis of MEX3 family genes in hepatocellular carcinoma
Zhang, X., Sun, P., Chu, T., Feng, Y., & Zhang, X. (2025) · Scientific Reports · doi:10.1038/s41598-025-02057-0 · Cited by 6
Description of a Novel ERBB4-rearranged Uterine Sarcoma
Lim, S. H., Mansor, S., Kathirvel, R., Kuick, C. H., Lim-Tan, S. K., & McCluggage, W. G. (2021) · International Journal of Gynecological Pathology · doi:10.1097/pgp.0000000000000826 · Cited by 6
An Unusual Endometrial Stromal Neoplasm With JAZF1-BCORL1 Rearrangement
Moghaddam, P. A., Young, R. H., Ismiil, N. D., Bennett, J. A., & Oliva, E. (2023) · International Journal of Gynecological Pathology · doi:10.1097/pgp.0000000000000941 · Cited by 6
The utility of FISH analysis in the diagnosis of BCOR-rearranged sarcomas
Cocchi, S., Gambarotti, M., Gamberi, G., Magagnoli, G., Maioli, M., Stevanin, M., Samperi, F., Righi, A., & Benini, S. (2024) · Pathology - Research and Practice · doi:10.1016/j.prp.2024.155209 · Cited by 6
Genotypes versus phenotypes: The potential paradigm shift in the diagnosis and management of pediatric neoplasms
Chan, G., & Chan, C. M. (2020) · Pediatric Investigation · doi:10.1002/ped4.12211 · Cited by 6
Mouse Models of Frequently Mutated Genes in Acute Myeloid Leukemia
Mohanty, S., & Heuser, M. (2021) · Cancers · doi:10.3390/cancers13246192 · Cited by 6
Clinicopathologic and molecular analysis of aBCOR–CCNB3undifferentiated sarcoma of the kidney reveals significant epigenetic alterationsPreprint
Hagoel, T. J., Gomez, E. C., Gupta, A. K., Twist, C. J., Kozielski, R., Martin, J. C., Gao, L., Kuechle, J., Singh, P. K., Lynch, M. L., et al. (2021) · Molecular Case Studies · doi:10.1101/mcs.a005942 · Cited by 6
Hao-Fountain syndrome protein USP7 controls neuronal differentiation via BCOR–ncPRC1.1Preprint
van der Meer, J. W., Larue, A., van der Knaap, J. A., Chalkley, G. E., Sijm, A., Beikmohammadi, L., Kozhevnikova, E. N., van der Vaart, A., Tilly, B. C., Bezstarosti, K., et al. (2025) · Genes & Development · doi:10.1101/gad.352272.124 · Cited by 7
Osteosarcoma’s genetic landscape painted by genes’ mutations
Urban, W., Krzystańska, D., Piekarz, M., Nazar, J., & Jankowska, A. (2023) · Acta Biochimica Polonica · doi:10.18388/abp.2020_6869 · Cited by 6
BCOR abnormalities in endometrial stromal sarcoma
Fayoumi, A. (2025) · Gynecologic Oncology Reports · doi:10.1016/j.gore.2024.101672 · Cited by 5
Mesonephric-like adenocarcinoma of the endometrium: detailed molecular characterization of the first case showing a morphological continuum from mesonephric-like metaplasia and atypical mesonephric-like hyperplasia to adenocarcinoma
Santoro, A., Angelico, G., Narducci, N., Travaglino, A., Piermattei, A., Inzani, F. S., Arciuolo, D., Addante, F., Urtueta, B. P., Tinnirello, G., et al. (2025) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/s00428-024-03972-9 · Cited by 5
Molecular Diversity of Embryonic-Type Neuroectodermal Tumors Arising From Testicular Germ Cell Tumors
Zong, Y., Huang, R., Bitar, M., Drakaki, A., Zhang, L., Lin, D. I., & Ye, H. (2024) · Modern Pathology · doi:10.1016/j.modpat.2024.100702 · Cited by 5
BCOR-CCNB3 Sarcoma with Prominent Rhabdoid Cells Mimicking Rhabdomyoblasts: Expanding the Morphologic spectrum of BCOR-CCNB3 Sarcoma
Cai, Z., Duncan, D., Li, R., Thomas, J. O., & Zhu, H. (2021) · International Journal of Surgical Pathology · doi:10.1177/10668969211013891 · Cited by 5
BCOR Internal Tandem Duplication Associated Uterine Sarcoma: Expanding the Clinicopathologic Spectrum
Thiryayi, S. A., Ettler, H. C., Goebel, E. A., Préfontaine, M., Paton, T., Wong, A., Yee, D., Agro, E., Mayers, J. G., Lerner‐Ellis, J. P., et al. (2021) · International Journal of Gynecological Pathology · doi:10.1097/pgp.0000000000000822 · Cited by 5
Infantile Fibrosarcoma and Other Spindle Cell Neoplasms of Infancy. A Review of Morphologically Overlapping yet Molecularly Distinctive Entities
Jabbari, S., Salari, B., He, M., & Dehner, L. P. (2022) · Fetal and Pediatric Pathology · doi:10.1080/15513815.2021.2024631 · Cited by 4
Outcomes of children with clear cell sarcoma of kidney following NWTS strategies in Shanghai China (2003–2021)
Zhang, A., Yuan, X., Jiang, S., Xu, D., Huang, C., Tang, J. Y., & Gao, Y. (2024) · PLoS ONE · doi:10.1371/journal.pone.0306863 · Cited by 4
Exploring the molecular insights of concurrent composite mucoepidermoid carcinoma and papillary thyroid carcinoma
Falcone, R., Sponziello, M., Carletti, R., Gioia, C. R. T. D., Nardi, F., Mio, C., Pecce, V., Abballe, L., Grani, G., Ramundo, V., et al. (2020) · Endocrine · doi:10.1007/s12020-020-02221-8 · Cited by 4

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

About these checks

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 ›

Are you an author, or do you see a problem with this page? Request a review

BCOR Involvement in Cancer

Abstract

Overview

Integrity signals

Figures

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks