ArticleProceedings of the National Academy of Sciences of the United States of America2014
Whole-genome sequencing identifies genomic heterogeneity at a nucleotide and chromosomal level in bladder cancer.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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Who cites it
53 citing papers in PubMed.
- The Cellular Response to Oxidatively Induced DNA Damage and Polymorphism of Some DNA Repair Genes Associated with Clinicopathological Features of Bladder Cancer.Oxidative medicine and cellular longevity · 2016Trial
- Beyond the tumor: Enhancing pancreatic cancer therapy through glutamine metabolism and innovative drug delivery.Journal of cell communication and signaling · 2025Review
- Fusion of tumor cells and mesenchymal stem/stroma cells: a source of tumor heterogeneity, evolution and recurrence.Medical oncology (Northwood, London, England) · 2025Review
- Simultaneous Lymphoepithelioma-Like and Plasmacytoid Subtypes of Urothelial Carcinoma, Along With Prostatic Adenocarcinoma With Clinical Follow-Up.Case reports in pathology · 2025Article
- Preclinical models of bladder cancer: BBN and beyond.Nature reviews. Urology · 2024Review
- From Genomic Exploration to Personalized Treatment: Next-Generation Sequencing in Oncology.Current issues in molecular biology · 2024Review
- Targeted therapies in bladder cancer: signaling pathways, applications, and challenges.MedComm · 2023Review
- Cross-species oncogenomics offers insight into human muscle-invasive bladder cancer.Genome biology · 2023Article
- Multimodal molecular landscape of response to Y90-resin microsphere radioembolization followed by nivolumab for advanced hepatocellular carcinoma.Journal for immunotherapy of cancer · 2023Article
- TRAIL-mediated signaling in bladder cancer: realization of clinical efficacy of TRAIL-based therapeutics in medical oncology.Medical oncology (Northwood, London, England) · 2023Review
- Bayesian finite mixture of regression analysis for cancer based on histopathological imaging-environment interactions.Biostatistics (Oxford, England) · 2023Article
- NMDA Receptor and Its Emerging Role in Cancer.International journal of molecular sciences · 2023Review
- Downregulation of BLM RecQ helicase inhibits proliferation, promotes the apoptosis and enhances the sensitivity of bladder cancer cells to cisplatin.Molecular medicine reports · 2022Article
- Whole-exome sequencing identified mutational profiles of urothelial carcinoma post kidney transplantation.Journal of translational medicine · 2022Article
- Are We Ready to Implement Molecular Subtyping of Bladder Cancer in Clinical Practice? Part 1: General Issues and Marker Expression.International journal of molecular sciences · 2022Review
- Chromothripsis-Explosion in Genetic Science.Cells · 2021Review
- Tumor heterogeneity and the potential role of liquid biopsy in bladder cancer.Cancer communications (London, England) · 2021Review
- Evolution of Urothelial Bladder Cancer in the Context of Molecular Classifications.International journal of molecular sciences · 2020Review
- Micronuclei-based model system reveals functional consequences of chromothripsis in human cells.eLife · 2019Article
- On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update.Frontiers in genetics · 2019Review
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30 authors.
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Abstract
Using complete genome analysis, we sequenced five bladder tumors accrued from patients with muscle-invasive transitional cell carcinoma of the urinary bladder (TCC-UB) and identified a spectrum of genomic aberrations. In three tumors, complex genotype changes were noted. All three had tumor protein p53 mutations and a relatively large number of single-nucleotide variants (SNVs; average of 11.2 per megabase), structural variants (SVs; average of 46), or both. This group was best characterized by chromothripsis and the presence of subclonal populations of neoplastic cells or intratumoral mutational heterogeneity. Here, we provide evidence that the process of chromothripsis in TCC-UB is mediated by nonhomologous end-joining using kilobase, rather than megabase, fragments of DNA, which we refer to as "stitchers," to repair this process. We postulate that a potential unifying theme among tumors with the more complex genotype group is a defective replication-licensing complex. A second group (two bladder tumors) had no chromothripsis, and a simpler genotype, WT tumor protein p53, had relatively few SNVs (average of 5.9 per megabase) and only a single SV. There was no evidence of a subclonal population of neoplastic cells. In this group, we used a preclinical model of bladder carcinoma cell lines to study a unique SV (translocation and amplification) of the gene glutamate receptor ionotropic N-methyl D-aspertate as a potential new therapeutic target in bladder cancer.
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