ArticleNature genetics2020
Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition.
Erratum issuedOpen access · hybridAbstract read
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Article in Nature genetics, 2020. 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 283 papers.
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283citing papers in PubMed
66.5field-weighted citation impact, top 1% of its field
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Who cites it
283 citing papers in PubMed, 463 citations in OpenAlex.
- The therapeutic potential of transposable element activity modulation.EMBO molecular medicine · 2026Review
- LINE-1 Deregulation in Ovarian Cancer: Implications for Diagnosis, Prognosis, and Therapeutic Targeting.Molecular diagnosis & therapy · 2026Review
- Immune pathway activation in gastric cancers with LINE-1 retrotransposon overexpression and homologous recombination deficiency.Experimental & molecular medicine · 2026Article
- The Role of Germline Transposable Element Insertions in Pediatric Cancer Predisposition.Cancer research communications · 2026Article
- Active Human Transposable Elements: Long-Read Sequencing Technologies, Computational Analysis, and Implications for Human Disease.Biomolecules · 2026Review
- Review
- Transposable Element Activation: A Hallmark of Cancer.Cancer discovery · 2026Review
- LINE-1 insertion intermediates recombine with one another or with DNA breaks to form genome rearrangements.Nature communications · 2026Article
- Recurrent ZC3H18 mutations stabilize oncogenic endogenous retroviral RNA.Cell reports · 2026Article
- Multiomic profiling links L1 retrotransposition to genomic instability and ecDNA in bladder cancer.Nature communications · 2026Article
- LINE-1 Retrotransposons and Amyotrophic Lateral Sclerosis.International journal of molecular sciences · 2026Review
- Personalized reference genome-based pipeline reveals comprehensive haplotype-resolved views of cancer genomes.bioRxiv : the preprint server for biology · 2026Article
- Differential gene expression of retrotransposons (LTR and non-LTR) in peripheral blood leukocytes of people with gout.Arthritis research & therapy · 2026Article
- Somatic mobility of transposons is explosive and shaped by distinct integration biases in Arabidopsis thaliana.Genome biology · 2026Article
- Quantitative Control of Transposable Elements: From Genome Plasticity to Immune Regulatory Circuits.Cell biochemistry and function · 2026Review
- Fiber-TEnCATS reveals haplotype-specific chromatin accessibility and DNA methylation at human L1HS loci.bioRxiv : the preprint server for biology · 2026Article
- LINE-1 retrotransposons: Multifaceted functions and regulatory mechanisms in health and disease.Molecular therapy. Nucleic acids · 2026Review
- Clonal evolution and mutational trajectories of metastatic colorectal cancer shaped by anticancer therapies.Nature communications · 2026Article
- Review
- Constitutive and tissue-specific target site preferences of the maize Mutator transposon.bioRxiv : the preprint server for biology · 2026Article
223 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
53 authors at 20 institutions in 14 countries.
Bernardo Rodriguez-MartinDepartment of Zoology, Genetics and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela, Spain.ORCID http://orcid.org/0000-0003-4693-3140
Eva G Alvarez *Department of Zoology, Genetics and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela, Spain.
Adrian Baez-Ortega *Transmissible Cancer Group, Department of Veterinary Medicine, University of Cambridge, Cambridge, UK.
Jorge Zamora *Department of Zoology, Genetics and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela, Spain.
Fran Supek *Genome Data Science, Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.ORCID http://orcid.org/0000-0002-7811-6711
Jonas DemeulemeesterThe Francis Crick Institute, London, UK.ORCID http://orcid.org/0000-0002-2660-2478
Martin SantamarinaDepartment of Zoology, Genetics and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela, Spain.
Young Seok JuGraduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Daejeon, South Korea.ORCID http://orcid.org/0000-0002-5514-4189
Javier TemesDepartment of Zoology, Genetics and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela, Spain.ORCID http://orcid.org/0000-0003-3370-4728
Daniel Garcia-SoutoGenomes and Disease, Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.ORCID http://orcid.org/0000-0002-0997-8799
Harald DeteringBiomedical Research Centre (CINBIO), University of Vigo, Vigo, Spain.
Yilong LiWellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK.
Jorge Rodriguez-CastroGenomes and Disease, Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.
Ana Dueso-BarrosoFaculty of Science and Technology, University of Vic-Central University of Catalonia (UVic-UCC), Vic, Spain.
Alicia L BruzosDepartment of Zoology, Genetics and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela, Spain.
Stefan C DentroThe Francis Crick Institute, London, UK.
Miguel G BlancoDNA Repair and Genome Integrity, Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.ORCID http://orcid.org/0000-0002-2883-7326
Gianmarco ContinoMedical Research Council (MRC) Cancer Unit, University of Cambridge, Cambridge, UK.
Daniel ArdeljanDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Baltimore, MD, USA.ORCID http://orcid.org/0000-0002-5593-421X
Marta TojoThe Biomedical Research Centre (CINBIO), Universidade de Vigo, Vigo, Spain.
Nicola D RobertsWellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK.ORCID http://orcid.org/0000-0002-0469-1043
Sonia ZumalaveDepartment of Zoology, Genetics and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela, Spain.ORCID http://orcid.org/0000-0002-2108-1861
Paul A EdwardsUniversity of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0002-4789-3374
Joachim WeischenfeldtEuropean Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.ORCID http://orcid.org/0000-0002-3917-5524
Montserrat PuiggròsBarcelona Supercomputing Center (BSC), Barcelona, Spain.
Zechen ChongDepartment of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Ken ChenUniversity of Texas MD Anderson Cancer Center, Houston, TX, USA.ORCID http://orcid.org/0000-0003-4013-5279
Eunjung Alice LeeDivision of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Jeremiah A WalaThe Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-6591-1620
Keiran M RaineCancer Ageing and Somatic Mutation Programme, Wellcome Sanger Institute, Cambridge, UK.ORCID http://orcid.org/0000-0002-5634-1539
Adam ButlerCancer Ageing and Somatic Mutation Programme, Wellcome Sanger Institute, Cambridge, UK.
Sebastian M WaszakEuropean Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.ORCID http://orcid.org/0000-0003-3042-9521
Fabio C P NavarroProgram in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA.ORCID http://orcid.org/0000-0002-5640-9070
Steven E SchumacherThe Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Jean MonlongDepartment of Human Genetics, McGill University, Montreal, Québec, Canada.ORCID http://orcid.org/0000-0002-9737-5516
Francesco MauraCancer Ageing and Somatic Mutation Programme, Wellcome Sanger Institute, Cambridge, UK.
Niccolo BolliDepartment of Oncology and Onco-Hematology, University of Milan, Milan, Italy.
Guillaume BourqueCanadian Center for Computational Genomics, McGill University, Montreal, Quebec, Canada.ORCID http://orcid.org/0000-0002-3933-9656
Mark GersteinProgram in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA.
Peter J ParkDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0001-9378-960X
David C WedgeCancer Ageing and Somatic Mutation Programme, Wellcome Sanger Institute, Cambridge, UK.
Rameen BeroukhimThe Broad Institute of Harvard and MIT, Cambridge, MA, USA.
David TorrentsInstitucio Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain.
Jan O KorbelEuropean Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.ORCID http://orcid.org/0000-0002-2798-3794
Iñigo MartincorenaWellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK.
Rebecca C FitzgeraldMedical Research Council (MRC) Cancer Unit, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0002-3434-3568
Peter Van LooThe Francis Crick Institute, London, UK.ORCID http://orcid.org/0000-0003-0292-1949
Haig H KazazianDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Baltimore, MD, USA.
Kathleen H BurnsDepartment of Pathology, Johns Hopkins University School of Medicine, Baltimore, Baltimore, MD, USA.ORCID http://orcid.org/0000-0003-1620-3761
PCAWG Structural Variation Working Group
Peter J CampbellWellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK. pc8@sanger.ac.uk.ORCID http://orcid.org/0000-0002-3921-0510
Jose M C TubioDepartment of Zoology, Genetics and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela, Spain. jose.mc.tubio@usc.es.ORCID http://orcid.org/0000-0003-3540-2459
PCAWG Consortium
Broad Institute · USUniversidade de Santiago de Compostela · ESUniversity of Cambridge · GBWellcome Sanger Institute · GBThe University of Melbourne · AUUniversity of Chicago · USCornell University · USThe University of Queensland · AUGerman Cancer Research Center · DEInstitució Catalana de Recerca i Estudis Avançats · ESHarvard University · USJohns Hopkins University · USThe University of Texas MD Anderson Cancer Center · USUniversity of Bern · CHWashington State University · USUniversity of Copenhagen · DKBarcelona Supercomputing Center · ESSeoul National University Hospital · KRMcGill University · CAUniversidade de Vigo · ES
Funding
Tumor Evolution and Metastasis ProgramP30CA016672 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI Fabien Delerue · 1985 to 2026
$290.8MUNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Stephanie Engel · 2001 to 2026
$36.3MTraining Program in Bioinformatics and Integrative GenomicsT32HG002295 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI Peter J Park · 2001 to 2026
$15.8MTRAINING IN AREAS FUNDAMENTAL TO CANCER RESEARCHT32CA009110 · NCI · JOHNS HOPKINS UNIVERSITY · PI MATUNIS, MICHAEL J., WEERARATNA, ASHANI T · 1985 to 2025
$13.1MAn Integrative Analysis of Structural Variation for the 1000 Genomes ProjectU41HG007497 · NHGRI · JACKSON LABORATORY · PI LEE, CHARLES · 2013 to 2017
$13.0MTraining CoreP50GM107632 · NIGMS · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI BOEKE, JEF D · 2013 to 2017
$10.0MDNA Damage Response and Repair of a Broken ChromosomeR35GM127029 · NIGMS · BRANDEIS UNIVERSITY · PI JAMES E HABER · 2018 to 2026
$8.6MGenetic evolution of glioblastomas during radiation and temozolomide therapyR01CA188228 · NCI · DANA-FARBER CANCER INST · PI BEROUKHIM, RAMEEN, CHAKRAVARTI, ARNAB · 2015 to 2025
$6.9MANALYSIS OF BRCA1 RECOMBINATION FUNCTIONSR01CA095175 · NCI · BETH ISRAEL DEACONESS MEDICAL CENTER · PI SCULLY, RALPH · 2002 to 2021
$4.9MRetrotransposition in Health and DiseaseR01GM099875 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI KAZAZIAN, HAIG H. · 2012 to 2019
$4.0MCenter for the comprehensive analysis of somatic copy-number alterations in cancerU24CA210978 · NCI · BROAD INSTITUTE, INC. · PI BEROUKHIM, RAMEEN, CHERNIACK, ANDREW DAVID · 2016 to 2020
$2.3MFANCM in repair of stalled replication forksR01CA217991 · NCI · BETH ISRAEL DEACONESS MEDICAL CENTER · PI SCULLY, RALPH · 2017 to 2021
$2.0MCancer Research UK 14545Cancer Research UK 21777Cancer Research UK 22720Cancer Research UK 23924Cancer Research UK A21777European Research Council 757700NCI NIH HHS P30 CA016672NCI NIH HHS R01 CA095175NCI NIH HHS R01 CA163705NCI NIH HHS R01 CA172652NCI NIH HHS R01 CA188228NCI NIH HHS R01 CA217991NCI NIH HHS T32 CA009110NCI NIH HHS U24 CA210978NHGRI NIH HHS T32 HG002295NHGRI NIH HHS U41 HG007497NIA NIH HHS K01 AG051791NIEHS NIH HHS P30 ES010126NIGMS NIH HHS P50 GM107632NIGMS NIH HHS R01 GM099875NIGMS NIH HHS R01 GM124531NIGMS NIH HHS R35 GM127029Swiss National Science Foundation 155365Wellcome Trust 088340Wellcome Trust 093867Wellcome Trust FC001202
Abstract
About half of all cancers have somatic integrations of retrotransposons. Here, to characterize their role in oncogenesis, we analyzed the patterns and mechanisms of somatic retrotransposition in 2,954 cancer genomes from 38 histological cancer subtypes within the framework of the Pan-Cancer Analysis of Whole Genomes (PCAWG) project. We identified 19,166 somatically acquired retrotransposition events, which affected 35% of samples and spanned a range of event types. Long interspersed nuclear element (LINE-1; L1 hereafter) insertions emerged as the first most frequent type of somatic structural variation in esophageal adenocarcinoma, and the second most frequent in head-and-neck and colorectal cancers. Aberrant L1 integrations can delete megabase-scale regions of a chromosome, which sometimes leads to the removal of tumor-suppressor genes, and can induce complex translocations and large-scale duplications. Somatic retrotranspositions can also initiate breakage-fusion-bridge cycles, leading to high-level amplification of oncogenes. These observations illuminate a relevant role of L1 retrotransposition in remodeling the cancer genome, with potential implications for the development of human tumors.
Indexed as
CarcinogenesisGene RearrangementGenome, HumanHumansLong Interspersed Nucleotide ElementsNeoplasmsRetroelementsRetroelements
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