ArticleNature genetics2017
A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers.
Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 62 papers.
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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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Who cites it
62 citing papers in PubMed.
- From cell to disease: Regulatory networks and mechanisms of super‑enhancers in aging (Review).Molecular medicine reports · 2026Review
- High-depth whole genome sequencing of premalignant breast lesions reveals rearrangement hotspots and personalized management opportunities.Nature communications · 2026Article
- Contrasting Features of Papillary and Chromophobe Renal Cell Carcinoma Revealed by Whole-Genome Sequencing.Molecular cancer research : MCR · 2026Article
- TONSL suppresses polymerase theta-dependent tandem duplications through chromatin-guided repair.Nature communications · 2026Article
- DDX5 super-enhancer promotes vasculogenic mimicry formation and metastasis in nasopharyngeal carcinoma by enhancing ADAM10 transcription.Cell reports. Medicine · 2025Article
- Genomic landscape of diffuse glioma revealed by whole genome sequencing.Nature communications · 2025Article
- Comprehensive multi-omics analysis of tandem duplicator phenotypes in non-small cell lung cancer.Frontiers in medicine · 2025Article
- Mechanisms of tandem duplication in the cancer genome.DNA repair · 2025Review
- Genomic landscape of adult testicular germ cell tumours in the 100,000 Genomes Project.Nature communications · 2024Article
- The genomic landscape of 2,023 colorectal cancers.Nature · 2024Article
- Whole genome sequencing refines stratification and therapy of patients with clear cell renal cell carcinoma.Nature communications · 2024Article
- Accurate identification of structural variations from cancer samples.Briefings in bioinformatics · 2023Article
- Visualizing and exploring patterns of large mutational events with SigProfilerMatrixGenerator.BMC genomics · 2023Article
- Etiology of super-enhancer reprogramming and activation in cancer.Epigenetics & chromatin · 2023Review
- Genetic determinants and absence of breast cancer in Xavante Indians in Sangradouro Reserve, Brazil.Scientific reports · 2023Article
- Characterization of somatic structural variations in 528 Chinese individuals with Esophageal squamous cell carcinoma.Nature communications · 2022Article
- Article
- Genomic and epigenomicScience translational medicine · 2022Article
- Computational analysis of cancer genome sequencing data.Nature reviews. Genetics · 2022Review
- Rearrangement processes and structural variations show evidence of selection in oesophageal adenocarcinomas.Communications biology · 2022Article
2 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
30 authors.
Funding
Abstract
Somatic rearrangements contribute to the mutagenized landscape of cancer genomes. Here, we systematically interrogated rearrangements in 560 breast cancers by using a piecewise constant fitting approach. We identified 33 hotspots of large (>100 kb) tandem duplications, a mutational signature associated with homologous-recombination-repair deficiency. Notably, these tandem-duplication hotspots were enriched in breast cancer germline susceptibility loci (odds ratio (OR) = 4.28) and breast-specific 'super-enhancer' regulatory elements (OR = 3.54). These hotspots may be sites of selective susceptibility to double-strand-break damage due to high transcriptional activity or, through incrementally increasing copy number, may be sites of secondary selective pressure. The transcriptomic consequences ranged from strong individual oncogene effects to weak but quantifiable multigene expression effects. We thus present a somatic-rearrangement mutational process affecting coding sequences and noncoding regulatory elements and contributing a continuum of driver consequences, from modest to strong effects, thereby supporting a polygenic model of cancer development.
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