ArticleNature communications2015
Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney.
Article in Nature communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
69 citing papers in PubMed, 159 citations in OpenAlex.
- Trial
- Marked Anaplasia Obscuring the Diagnosis of Clear Cell Sarcoma of the Kidney in Pretreatment Needle Biopsy.Pathology international · 2026Article
- Novel NOTCH3 alteration expanding the molecular spectrum of pericytic tumours: report of two cases.Histopathology · 2026Article
- Fast and sensitive detection of targeted gene fusions using frequency minimizers and fuzzy pattern matching with Fuzzion2.Cell reports methods · 2025Article
- Patient-derived tumoroids recapitulate the morphologic and molecular features of pediatric brain tumors.NPJ precision oncology · 2025Article
- Analysis of a BCOR internal tandem duplication in mouse embryonic stem cell to neuronal precursor differentiation.Genetics · 2025Article
- Tumor heterogeneity in retinoblastoma: a literature review.Cancer metastasis reviews · 2025Review
- Infantile undifferentiated sarcomas: a diagnostic and therapeutic challenge - two case reports and literature review.Acta oncologica (Stockholm, Sweden) · 2025Review
- An innovative full-size pathogenic tandem duplication mutation precise detection system based on next-generation sequencing.Experimental biology and medicine (Maywood, N.J.) · 2025Article
- Aberrant gene activation in synovial sarcoma relies on SSX specificity and increased PRC1.1 stability.Nature structural & molecular biology · 2023Article
- Article
- Review
- Targeted, programmable, and precise tandem duplication in the mammalian genome.Genome research · 2023Article
- High-grade neuroepithelial tumor with EP300::BCOR fusion and negative BCOR immunohistochemical expression: a case report.Brain tumor pathology · 2023Article
- The Recent Advances in Molecular Diagnosis of Soft Tissue Tumors.International journal of molecular sciences · 2023Review
- Molecular Signature of Biological Aggressiveness in Clear Cell Sarcoma of the Kidney (CCSK).International journal of molecular sciences · 2023Article
- Mesenchymal non-meningothelial tumors of the central nervous system: a literature review and diagnostic update of novelties and emerging entities.Acta neuropathologica communications · 2023Review
- Article
- Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study.Pediatric hematology and oncology · 2023Article
- Small round cell sarcomas.Nature reviews. Disease primers · 2022Review
9 more citing papers are in PubMed but not listed here.
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Authors and funding
22 authors at 4 institutions in 1 country.
Funding
Abstract
The X-linked BCL-6 co-repressor (BCOR) gene encodes a key constituent of a variant polycomb repressive complex (PRC) that is mutated or translocated in human cancers. Here we report on the identification of somatic internal tandem duplications (ITDs) clustering in the C terminus of BCOR in 23 of 27 (85%) pediatric clear cell sarcomas of the kidney (CCSK) from two independent cohorts. We profile CCSK tumours using a combination of whole-exome, transcriptome and targeted sequencing. Identical ITD mutations are found in primary and relapsed tumour pairs but not in adjacent normal kidney or blood. Mutant BCOR transcripts and proteins are markedly upregulated in ITD-positive tumours. Transcriptome analysis of ITD-positive CCSKs reveals enrichment for PRC2-regulated genes and similarity to undifferentiated sarcomas harbouring BCOR-CCNB3 fusions. The discovery of recurrent BCOR ITDs defines a major oncogenic event in this childhood sarcoma with significant implications for diagnostic and therapeutic approaches to this tumour.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.