ArticleNature communications2024
Genomic landscape of adult testicular germ cell tumours in the 100,000 Genomes Project.
Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Molecular profiling and access to treatment for rare cancers in Europe.Nature communications · 2026Article
- Discovery of natural apigenin analogues as lysine-specific demethylase 1 inhibitors against tumoral testicular germ cells.Scientific reports · 2026Article
- NanoString profiling of DNA repair and apoptosis genes in testicular germ cell tumours with divergent chemotherapy outcomes.Therapeutic advances in medical oncology · 2026Article
- Testicular Cancer: Diagnosis, Treatment, and Biomarker Advances.Research and reports in urology · 2026Review
- Article
- Molecular Features and Actionable Gene Targets of Testicular Germ Cell Tumors in a Real-World Setting.International journal of molecular sciences · 2025Article
- Phosphoribosyl transferase domain containing 1: A prognostic biomarker in testicular germ cell tumors.Molecular therapy. Oncology · 2025Article
- A Thiopurine-like Mutagenic Process Defines TGCT Subtypes.bioRxiv : the preprint server for biology · 2025Article
- Immune cell profiling of peripheral blood in long-term testicular germ cell tumor survivors.Frontiers in immunology · 2025Article
- Multiomics Approach Distinguishes SPTBN4 as a Key Molecule in Diagnosis, Prognosis, and Immune Suppression of Testicular Seminomas.International journal of genomics · 2025Article
Corrections and comments
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Authors and funding
29 authors.
Funding
Abstract
Testicular germ cell tumours (TGCT), which comprise seminoma and non-seminoma subtypes, are the most common cancers in young men. In this study, we present a comprehensive whole genome sequencing analysis of adult TGCTs. Leveraging samples from participants recruited via the UK National Health Service and data from the Genomics England 100,000 Genomes Project, our results provide an extended description of genomic elements underlying TGCT pathogenesis. This catalogue offers a comprehensive, high-resolution map of copy number alterations, structural variation, and key global genome features, including mutational signatures and analysis of extrachromosomal DNA amplification. This study establishes correlations between genomic alterations and histological diversification, revealing divergent evolutionary trajectories among TGCT subtypes. By reconstructing the chronological order of driver events, we identify a subgroup of adult TGCTs undergoing relatively late whole genome duplication. Additionally, we present evidence that human leukocyte antigen loss is a more prevalent mechanism of immune disruption in seminomas. Collectively, our findings provide valuable insights into the developmental and immune modulatory processes implicated in TGCT pathogenesis and progression.
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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.