ArticleNature genetics2013
Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.
Article in Nature genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 118 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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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
118 citing papers in PubMed, 3 syntheses or guidelines pooled it, 224 citations in OpenAlex.
- A Systematic Review of Adjuvant Chemotherapy in Localized Dedifferentiated Chondrosarcoma.Current oncology (Toronto, Ont.) · 2024Pooled it
- Prognostic importance of IDH mutations in chondrosarcoma: An individual patient data meta-analysis.Cancer medicine · 2021Pooled it
- Meta-analysis of IDH-mutant cancers identifies EBF1 as an interaction partner for TET2.Nature communications · 2013Pooled it
- Nivolumab and sunitinib in patients with advanced bone sarcomas: A multicenter, single-arm, phase 2 trial.Cancer · 2025Trial
- Chondrosarcoma: A comprehensive review of tumor biology, clinical behavior, and therapeutic advances.Cancer treatment reviews · 2026Review
- Dedifferentiated Chondrosarcoma: Current Advances and Future Perspectives.Current treatment options in oncology · 2026Review
- Clear Cell Chondrosarcoma With Somatic VHL Inactivation: A Case Report With Integrated Genomic and Transcriptomic Analysis.Genes, chromosomes & cancer · 2026Article
- Integrated Immune and Molecular Profiling Identifies Prognostic Subgroups and Therapeutic Targets in Chondrosarcoma.International journal of molecular sciences · 2026Article
- Chondrosarcoma organoids reveal SHH pathway activation driven by PTCH1 and BCOR alterations.Scientific reports · 2025Article
- The diagnostic landscape of bone and soft tissue sarcoma: the pan-sarcoma era and AI-driven classification.The journal of pathology. Clinical research · 2025Article
- BCOR-Mutated Conventional and Dedifferentiated Chondrosarcoma: A Clinicopathologic Study.Genes, chromosomes & cancer · 2025Article
- Advances in the Molecular Biology of Chondrosarcoma for Drug Discovery and Precision Medicine.Cancers · 2025Review
- Establishment and characterization of TK-DDCS1: a novel IDH1 mutated dedifferentiated chondrosarcoma cell line.Human cell · 2025Article
- G Protein-Coupled Receptor 35 Holds Potential as a Beacon of Hope for Treating Chondrosarcoma.Balkan journal of medical genetics : BJMG · 2025Article
- Genomic Characterization of Chondrosarcoma Reveals Potential Therapeutic Targets.JCO precision oncology · 2025Article
- Chondrosarcoma: New Molecular Insights, Challenges in Near-Patient Preclinical Modeling, and Therapeutic Approaches.International journal of molecular sciences · 2025Review
- Clinical insights into circulating free-DNA in patients with bone sarcomas and ewing sarcoma.Clinics (Sao Paulo, Brazil) · 2025Article
- Liquid Biopsy for Spinal Tumors: On the Frontiers of Clinical Application.Global spine journal · 2025Article
- A Multi-functional Hybrid System Comprised of Polydopamine Nanobottles and Biological Effectors for Cartilage Repair.Small (Weinheim an der Bergstrasse, Germany) · 2024Article
- Genetics and Molecular Pathogenesis of the Chondrosarcoma: A Review of the Literature.Current issues in molecular biology · 2024Review
58 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
34 authors at 4 institutions in 2 countries.
Funding
Abstract
Chondrosarcoma is a heterogeneous collection of malignant bone tumors and is the second most common primary malignancy of bone after osteosarcoma. Recent work has identified frequent, recurrent mutations in IDH1 or IDH2 in nearly half of central chondrosarcomas. However, there has been little systematic genomic analysis of this tumor type, and, thus, the contribution of other genes is unclear. Here we report comprehensive genomic analyses of 49 individuals with chondrosarcoma (cases). We identified hypermutability of the major cartilage collagen gene COL2A1, with insertions, deletions and rearrangements identified in 37% of cases. The patterns of mutation were consistent with selection for variants likely to impair normal collagen biosynthesis. In addition, we identified mutations in IDH1 or IDH2 (59%), TP53 (20%), the RB1 pathway (33%) and Hedgehog signaling (18%).
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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.