Astolfi A, Fiore M, Melchionda F, Indio V, Bertuccio SN, Pession A (2019) BCOR involvement in cancer. Epigenomics 11:835–855. https://doi.org/10.2217/epi-2018-0195
Article CAS PubMed PubMed Central Google Scholar
Barresi V, Cardoni A, Miele E, Pedace L, Masotto B, Nardini C, Barresi S, Rossi S (2024) CNS tumor with CREBBP::BCORL1 Fusion and pathogenic mutations in BCOR and CREBBP: expanding the spectrum of BCOR-altered tumors. Acta Neuropathol Commun 12:8. https://doi.org/10.1186/s40478-024-01726-x
Article CAS PubMed PubMed Central Google Scholar
Barthel FP, Johnson KC, Varn FS, Moskalik AD, Tanner G, Kocakavuk E, Anderson KJ, Abiola O, Aldape K, Alfaro KD al (2019) Longitudinal molecular trajectories of diffuse glioma in adults. Nature 576:112–120. https://doi.org/10.1038/s41586-019-1775-1
Article CAS PubMed PubMed Central Google Scholar
Bhandari V, Hoey C, Liu LY, Lalonde E, Ray J, Livingstone J, Lesurf R, Shiah YJ, Vujcic T, Huang X al (2019) Molecular landmarks of tumor hypoxia across cancer types. Nat Genet 51:308–318. https://doi.org/10.1038/s41588-018-0318-2
Article CAS PubMed Google Scholar
Bonneville R, Krook MA, Kautto EA, Miya J, Wing MR, Chen HZ, Reeser JW, Yu L, Roychowdhury S (2017) Landscape of microsatellite instability across 39 Cancer types. JCO Precis Oncol 2017. https://doi.org/10.1200/PO.17.00073
Brennan CW, Verhaak RG, McKenna A, Campos B, Noushmehr H, Salama SR, Zheng S, Chakravarty D, Sanborn JZ, Berman SHet al et al (2013) The somatic genomic landscape of glioblastoma. Cell 155:462–477. https://doi.org/10.1016/j.cell.2013.09.034
Article CAS PubMed PubMed Central Google Scholar
Cancer Genome Atlas Research N (2008) Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature 455:1061–1068. https://doi.org/10.1038/nature07385
Ceccarelli M, Barthel FP, Malta TM, Sabedot TS, Salama SR, Murray BA, Morozova O, Newton Y, Radenbaugh A, Pagnotta SM al (2016) Molecular profiling reveals biologically discrete subsets and pathways of progression in diffuse glioma. Cell 164:550–563. https://doi.org/10.1016/j.cell.2015.12.028
Article CAS PubMed PubMed Central Google Scholar
Ding L, Bailey MH, Porta-Pardo E, Thorsson V, Colaprico A, Bertrand D, Gibbs DL, Weerasinghe A, Huang KL, Tokheim C et al (2018) Perspective on Oncogenic Processes at the End of the Beginning of Cancer Genomics. Cell 173: 305–320 e310 https://doi.org/10.1016/j.cell.2018.03.033
Ellrott K, Bailey MH, Saksena G, Covington KR, Kandoth C, Stewart C, Hess J, Ma S, Chiotti KE, McLellan M et al (2018) Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines. Cell Syst 6: 271–281 e277 https://doi.org/10.1016/j.cels.2018.03.002
Ferris SP, Velazquez Vega J, Aboian M, Lee JC, Van Ziffle J, Onodera C, Grenert JP, Saunders T, Chen YY, Banerjee A et al (2020) High-grade neuroepithelial tumor with BCOR exon 15 internal tandem duplication-a comprehensive clinical, radiographic, pathologic, and genomic analysis. Brain Pathol 30: 46–62 https://doi.org/10.1111/bpa.12747
Fukuoka K, Kanemura Y, Shofuda T, Fukushima S, Yamashita S, Narushima D, Kato M, Honda-Kitahara M, Ichikawa H, Kohno T et al (2018) Significance of molecular classification of ependymomas: C11orf95-RELA fusion-negative supratentorial ependymomas are a heterogeneous group of tumors. Acta Neuropathol Commun 6: 134 https://doi.org/10.1186/s40478-018-0630-1
Gao Q, Liang WW, Foltz SM, Mutharasu G, Jayasinghe RG, Cao S, Liao WW, Reynolds SM, Wyczalkowski MA, Yao L et al (2018) Driver Fusions and Their Implications in the Development and Treatment of Human Cancers. Cell Rep 23: 227–238 e223 https://doi.org/10.1016/j.celrep.2018.03.050
Hoadley KA, Yau C, Hinoue T, Wolf DM, Lazar AJ, Drill E, Shen R, Taylor AM, Cherniack AD, Thorsson V (2018) al Cell-of-Origin Patterns Dominate the Molecular Classification of 10,000 Tumors from 33 Types of Cancer. Cell 173: 291–304 e296 https://doi.org/10.1016/j.cell.2018.03.022
Johnson BE, Mazor T, Hong C, Barnes M, Aihara K, McLean CY, Fouse SD, Yamamoto S, Ueda H, Tatsuno Ket al et al (2014) Mutational analysis reveals the origin and therapy-driven evolution of recurrent glioma. Science 343:189–193. https://doi.org/10.1126/science.1239947
Article CAS PubMed Google Scholar
Jones DT, Hutter B, Jager N, Korshunov A, Kool M, Warnatz HJ, Zichner T, Lambert SR, Ryzhova M, Quang DA al (2013) Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. Nat Genet 45:927–932. https://doi.org/10.1038/ng.2682
Article CAS PubMed PubMed Central Google Scholar
Jonsson P, Lin AL, Young RJ, DiStefano NM, Hyman DM, Li BT, Berger MF, Zehir A, Ladanyi M Solit DB (2019) genomic correlates of Disease Progression and Treatment Response in prospectively characterized gliomas. Clin Cancer Res 25: 5537–5547 Doi 10.1158/1078– 0432.CCR-19-0032
Junco SE, Wang R, Gaipa JC, Taylor AB, Schirf V, Gearhart MD, Bardwell VJ, Demeler B, Hart PJ, Kim CA (2013) Structure of the polycomb group protein PCGF1 in complex with BCOR reveals basis for binding selectivity of PCGF homologs. Structure 21:665–671. https://doi.org/10.1016/j.str.2013.02.013
Article CAS PubMed PubMed Central Google Scholar
Liu J, Lichtenberg T, Hoadley KA, Poisson LM, Lazar AJ, Cherniack AD, Kovatich AJ, Benz CC, Levine DA, Lee AV et al (2018) An Integrated TCGA Pan-Cancer Clinical Data Resource to Drive High-Quality Survival Outcome Analytics. Cell 173: 400–416 e411 https://doi.org/10.1016/j.cell.2018.02.052
Miller AM, Shah RH, Pentsova EI, Pourmaleki M, Briggs S, Distefano N, Zheng Y, Skakodub A, Mehta SA, Campos Cet al et al (2019) Tracking tumour evolution in glioma through liquid biopsies of cerebrospinal fluid. Nature 565:654–658. https://doi.org/10.1038/s41586-019-0882-3
Article CAS PubMed PubMed Central Google Scholar
Petralia F, Tignor N, Reva B, Koptyra M, Chowdhury S, Rykunov D, Krek A, Ma W, Zhu Y, Ji Jet al et al (2020) Integrated Proteogenomic Characterization across Major Histological Types of Pediatric Brain Cancer. Cell 183: 1962–1985 e1931 https://doi.org/10.1016/j.cell.2020.10.044
Pisapia DJ, Ohara K, Bareja R, Wilkes DC, Hissong E, Croyle JA, Kim JH, Saab J, MacDonald TY, Beg Set al et al (2020) Fusions involving BCOR and CREBBP are rare events in infiltrating glioma. Acta Neuropathol Commun 8:80. https://doi.org/10.1186/s40478-020-00951-4
Article CAS PubMed PubMed Central Google Scholar
Poore GD, Kopylova E, Zhu Q, Carpenter C, Fraraccio S, Wandro S, Kosciolek T, Janssen S, Metcalf J, Song SJ al (2020) Microbiome analyses of blood and tissues suggest cancer diagnostic approach. Nature 579:567–574. https://doi.org/10.1038/s41586-020-2095-1
Article CAS PubMed PubMed Central Google Scholar
Sanchez-Vega F, Mina M, Armenia J, Chatila WK, Luna A, La KC, Dimitriadoy S, Liu DL, Kantheti HS, Saghafinia Set al et al (2018) Oncogenic Signaling Pathways in The Cancer Genome Atlas. Cell 173: 321–337 e310 https://doi.org/10.1016/j.cell.2018.03.035
Tauziede-Espariat A, Pierron G, Siegfried A, Guillemot D, Uro-Coste E, Nicaise Y, Castel D, Catalaa I, Larrieu-Ciron D, Chaynes Pet al et al (2020) The EP300:BCOR fusion extends the genetic alteration spectrum defining the new tumoral entity of CNS tumors with BCOR internal tandem duplication. Acta Neuropathol Commun 8:178. https://doi.org/10.1186/s40478-020-01064-8
Article PubMed PubMed Central Google Scholar
Tauziede-Espariat A, Uro-Coste E, Sievers P, Nicaise Y, Mariet C, Siegfried A, Pierron G, Guillemot D, Benzakoun J Pallud J (2023) CNS tumor with EP300::BCOR fusion: discussing its prevalence in adult population. Acta Neuropathol Commun 11: 26 https://doi.org/10.1186/s40478-023-01523-y
Taylor AM, Shih J, Ha G, Gao GF, Zhang X, Berger AC, Schumacher SE, Wang C, Hu H, Liu J et al (2018) Genomic and Functional Approaches to Understanding Cancer Aneuploidy. Cancer Cell 33: 676–689 e673 https://doi.org/10.1016/j.ccell.2018.03.007
Thomas AA, Abrey LE, Terziev R, Raizer J, Martinez NL, Forsyth P, Paleologos N, Matasar M, Sauter CS, Moskowitz C al (2017) Multicenter phase II study of temozolomide and myeloablative chemotherapy with autologous stem cell transplant for newly diagnosed anaplastic oligodendroglioma. Neuro Oncol 19:1380–1390. https://doi.org/10.1093/neuonc/nox086
Article CAS PubMed PubMed Central Google Scholar
Torre M, Meredith DM, Dubuc A, Solomon DA, Perry A, Vasudevaraja V, Serrano J, Snuderl M, Ligon KL, Alexandrescu S (2019) Recurrent EP300-BCOR fusions in Pediatric Gliomas with distinct clinicopathologic features. J Neuropathol Exp Neurol 78:305–314. https://doi.org/10.1093/jnen/nlz011
Article CAS PubMed Google Scholar
Vaubel RA, Tian S, Remonde D, Schroeder MA, Mladek AC, Kitange GJ, Caron A, Kollmeyer TM, Grove R, Peng S et al (2020) Genomic and Phenotypic Characterization of a Broad Panel of Patient-Derived Xenografts Reflects the Diversity of Glioblastoma. Clin Cancer Res 26: 1094–1104 https://doi.org/10.1158/1078-0432.CCR-19-0909
Wang LB, Karpova A, Gritsenko MA, Kyle JE, Cao S, Li Y, Rykunov D, Colaprico A, Rothstein JH, Hong Ret al et al (2021) Proteogenomic and metabolomic characterization of human glioblastoma. Cancer Cell 39: 509–528 e520 https://doi.org/10.1016/j.ccell.2021.01.006
Wu Z, Rajan S, Chung HJ, Raffeld M, Panneer Selvam P, Schweizer L, Perry A, Samuel D, Giannini C, Ragunathan Aet al et al (2022) Molecular and clinicopathologic characteristics of gliomas with EP300::BCOR fusions. Acta Neuropathol 144:1175–1178. https://doi.org/10.1007/s00401-022-02508-2
Article CAS PubMed PubMed Central Google Scholar
Xu Y, Hou Y, Gao X, Li J, Jiang D, Li Z, Hu P, Wang Y, Wen Y, Yao Xet al et al (2023) Report two adult cases of high-grade neuroepithelial neoplasm harbouring EP300::BCOR fusions with comprehensive molecular detection. Brain Pathol 33:e13177. https://doi.org/10.1111/bpa.13177
Article CAS PubMed PubMed Central Google Scholar
Yamazaki A, Arai Y, Fukuoka K, Nakano Y, Hama N, Nakata S, Makino K, Kuroda JI, Shinojima N, Mukasa Aet al et al (2022) Diffusely infiltrating glioma with CREBBP-BCORL1 fusion showing overexpression of not only BCORL1 but BCOR: a case report. Brain Tumor Pathol 39:171–178. https://doi.org/10.1007/s10014-022-00435-4
Article CAS PubMed Google Scholar
Zhao J, Chen AX, Gartrell RD, Silverman AM, Aparicio L, Chu T, Bordbar D, Shan D, Samanamud J Mahajan A (2019) Immune and genomic correlates of response to anti-PD-1 immunotherapy in glioblastoma. Nat Med 25: 462–469 https://doi.org/10.1038/s41591-019-0349-y
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