ArticleNature communications2021
Whole genome sequencing of skull-base chordoma reveals genomic alterations associated with recurrence and chordoma-specific survival.
Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers, 2 of them syntheses that pooled it.
What it found
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Who cites it
67 citing papers in PubMed, 2 syntheses or guidelines pooled it, 114 citations in OpenAlex.
- The prevalence of pathogenic variants in the BMPR2 gene in patients with the idiopathic pulmonary arterial hypertension in the Russian population: sequencing data and meta-analysis.Respiratory research · 2025Pooled it
- Prognostic molecular biomarkers in chordomas: A systematic review and identification of clinically usable biomarker panels.Frontiers in oncology · 2022Pooled it
- Ultrastructural pathological features and clinical significance of recurrent chordoma.Journal of bone oncology · 2026Article
- The copy-number events in skull base chordoma stratify tumours into four biologically coherent groups.Neoplasia (New York, N.Y.) · 2026Article
- Advanced Imaging and Biomarker Discovery for Early Diagnosis in Skull Base Pathology.Asian journal of neurosurgery · 2026Article
- Review
- Immune infiltration is associated with distinct transcriptional states and metabolic profiles in chordomas.iScience · 2026Article
- A patient-derived organoid model identifies TP53-dependent gemcitabine sensitivity in spinal chordoma.Discover oncology · 2026Article
- From Histology to Multi-Omics: Review of Chordoma Classification and Its Clinical Implications.Cells · 2026Review
- Notch1 O-GlcNAcylation drives tumor stemness and mechanoadaptation to a stiff microenvironment and promotes chordoma recurrence.The Journal of clinical investigation · 2026Article
- Multi-Institutional Modified Delphi For Genomics in Expert Consensus Survey of Genomic Testing for Anterior Skull Base Malignancies.Journal of neurological surgery. Part B, Skull base · 2026Article
- Comprehensive profiling of paediatric chordoma: poorly differentiated and conventional subtypes.Brain communications · 2026Article
- TP53 mutations as drivers of chordoma progression and hallmarks of aggressive chordoma.Acta neuropathologica communications · 2025Article
- Radiogenomics and radiomics of skull base chordoma: Classification of novel radiomic subgroups and prediction of genetic signatures and clinical outcomes.Neuro-oncology · 2025Article
- Mutational analysis of primary and advanced chordoma tissue using next-generation sequencing.Cancer · 2025Article
- Multi-omic analysis of gallbladder cancer identifies distinct tumor microenvironments associated with disease progression.Nature genetics · 2025Article
- The TBXT rs2305089 SNP links the benign notochordal cell tumour and chordoma.The Journal of pathology · 2025Article
- Identification of immune subtypes associated with the prognosis in skull base chordoma.Acta neuropathologica communications · 2025Article
- RAB3B Dictates mTORC1/S6 Signaling in Chordoma and Predicts Response to mTORC1-Targeted Therapy.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Advancing Precision Medicine: The Role of Genetic Testing and Sequencing Technologies in Identifying Biological Markers for Rare Cancers.Cancer medicine · 2025Review
7 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
29 authors at 3 institutions in 2 countries.
Funding
Abstract
Chordoma is a rare bone tumor with an unknown etiology and high recurrence rate. Here we conduct whole genome sequencing of 80 skull-base chordomas and identify PBRM1, a SWI/SNF (SWItch/Sucrose Non-Fermentable) complex subunit gene, as a significantly mutated driver gene. Genomic alterations in PBRM1 (12.5%) and homozygous deletions of the CDKN2A/2B locus are the most prevalent events. The combination of PBRM1 alterations and the chromosome 22q deletion, which involves another SWI/SNF gene (SMARCB1), shows strong associations with poor chordoma-specific survival (Hazard ratio [HR] = 10.55, 95% confidence interval [CI] = 2.81-39.64, p = 0.001) and recurrence-free survival (HR = 4.30, 95% CI = 2.34-7.91, p = 2.77 × 10
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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.