Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

  1. Rodríguez-Martín, Bernardo ORCID logo
  2. Alvarez, Eva G.
  3. Baez-Ortega, Adrian
  4. Zamora, Jorge
  5. Supek, Fran ORCID logo
  6. Demeulemeester, Jonas ORCID logo
  7. Santamarina, Martin
  8. Ju, Young Seok ORCID logo
  9. Temes, Javier ORCID logo
  10. García-Souto, Daniel ORCID logo
  11. Detering, Harald
  12. Li, Yilong
  13. Rodriguez-Castro, Jorge
  14. Dueso-Barroso, Ana
  15. Bruzos, Alicia L.
  16. Dentro, Stefan C.
  17. González Blanco, Miguel ORCID logo
  18. Contino, Gianmarco
  19. Ardeljan, Daniel ORCID logo
  20. Tojo, Marta
  21. Roberts, Nicola ORCID logo
  22. Zumalave, Sonia ORCID logo
  23. Edwards, Paul ORCID logo
  24. Weischenfeldt, Joachim ORCID logo
  25. Puiggròs, Montserrat
  26. Chong, Zechen
  27. Chen, Ken ORCID logo
  28. Lee, Eunjung Alice
  29. Wala, Jeremiah ORCID logo
  30. Raine, Keiran ORCID logo
  31. Butler, Adam
  32. Waszak, Sebastian ORCID logo
  33. Navarro, Fábio ORCID logo
  34. Schumacher, Steven E.
  35. Monlong, Jean ORCID logo
  36. Maura, Francesca
  37. Bolli, Niccolo
  38. Bourque, Guillaume ORCID logo
  39. Gerstein, Mark
  40. Park, Peter ORCID logo
  41. Wedge, David C.
  42. Beroukhim, Rameen
  43. Torrents, David
  44. Korbel, Jan ORCID logo
  45. Martincorena, Inigo
  46. Fitzgerald, Rebecca ORCID logo
  47. Van Loo, Peter ORCID logo
  48. Kazazian, Haig H.
  49. Burns, Kathleen ORCID logo
  50. Campbell, Peter ORCID logo
  51. Tubio, Jose ORCID logo
  52. http://orcid.org/0000-0003-1620-3761
  53. PCAWG Consortium

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1000 Titel
  • Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition
1000 Autor/in
  1. Rodríguez-Martín, Bernardo |
  2. Alvarez, Eva G. |
  3. Baez-Ortega, Adrian |
  4. Zamora, Jorge |
  5. Supek, Fran |
  6. Demeulemeester, Jonas |
  7. Santamarina, Martin |
  8. Ju, Young Seok |
  9. Temes, Javier |
  10. García-Souto, Daniel |
  11. Detering, Harald |
  12. Li, Yilong |
  13. Rodriguez-Castro, Jorge |
  14. Dueso-Barroso, Ana |
  15. Bruzos, Alicia L. |
  16. Dentro, Stefan C. |
  17. González Blanco, Miguel |
  18. Contino, Gianmarco |
  19. Ardeljan, Daniel |
  20. Tojo, Marta |
  21. Roberts, Nicola |
  22. Zumalave, Sonia |
  23. Edwards, Paul |
  24. Weischenfeldt, Joachim |
  25. Puiggròs, Montserrat |
  26. Chong, Zechen |
  27. Chen, Ken |
  28. Lee, Eunjung Alice |
  29. Wala, Jeremiah |
  30. Raine, Keiran |
  31. Butler, Adam |
  32. Waszak, Sebastian |
  33. Navarro, Fábio |
  34. Schumacher, Steven E. |
  35. Monlong, Jean |
  36. Maura, Francesca |
  37. Bolli, Niccolo |
  38. Bourque, Guillaume |
  39. Gerstein, Mark |
  40. Park, Peter |
  41. Wedge, David C. |
  42. Beroukhim, Rameen |
  43. Torrents, David |
  44. Korbel, Jan |
  45. Martincorena, Inigo |
  46. Fitzgerald, Rebecca |
  47. Van Loo, Peter |
  48. Kazazian, Haig H. |
  49. Burns, Kathleen |
  50. Campbell, Peter |
  51. Tubio, Jose |
1000 Mitwirkende/r
  1. http://orcid.org/0000-0003-1620-3761 |
  2. PCAWG Consortium |
1000 Erscheinungsjahr 2020
1000 LeibnizOpen
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2020-02-05
1000 Erschienen in
1000 Quellenangabe
  • 52(3):306-319
1000 FRL-Sammlung
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1038/s41588-019-0562-0 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058536/ |
1000 Ergänzendes Material
  • https://www.nature.com/articles/s41588-019-0562-0#Sec35 |
1000 Publikationsstatus
1000 Begutachtungsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • 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.
1000 Sacherschließung
lokal Humans
lokal Genome, Human/genetics
lokal Long Interspersed Nucleotide Elements/genetics
lokal Neoplasms/genetics
lokal Humans [MeSH]
lokal Carcinogenesis/genetics
lokal Neoplasms/genetics [MeSH]
lokal Retroelements/genetics [MeSH]
lokal Gene Rearrangement/genetics [MeSH]
lokal Long Interspersed Nucleotide Elements/genetics [MeSH]
lokal Genome, Human/genetics [MeSH]
lokal Retroelements/genetics
lokal Neoplasms/pathology [MeSH]
lokal Neoplasms/pathology
lokal Gene Rearrangement/genetics
lokal Carcinogenesis/genetics [MeSH]
1000 Fächerklassifikation (DDC)
1000 Liste der Beteiligten
  1. http://orcid.org/0000-0003-4693-3140|https://frl.publisso.de/adhoc/uri/QWx2YXJleiwgRXZhIEcu|https://frl.publisso.de/adhoc/uri/QmFlei1PcnRlZ2EsIEFkcmlhbg==|https://frl.publisso.de/adhoc/uri/WmFtb3JhLCBKb3JnZQ==|http://orcid.org/0000-0002-7811-6711|http://orcid.org/0000-0002-2660-2478|https://frl.publisso.de/adhoc/uri/U2FudGFtYXJpbmEsIE1hcnRpbg==|http://orcid.org/0000-0002-5514-4189|http://orcid.org/0000-0003-3370-4728|http://orcid.org/0000-0002-0997-8799|https://frl.publisso.de/adhoc/uri/RGV0ZXJpbmcsIEhhcmFsZA==|https://frl.publisso.de/adhoc/uri/TGksIFlpbG9uZw==|https://frl.publisso.de/adhoc/uri/Um9kcmlndWV6LUNhc3RybywgSm9yZ2U=|https://frl.publisso.de/adhoc/uri/RHVlc28tQmFycm9zbywgQW5h|https://frl.publisso.de/adhoc/uri/QnJ1em9zLCBBbGljaWEgTC4=|https://frl.publisso.de/adhoc/uri/RGVudHJvLCBTdGVmYW4gQy4=|http://orcid.org/0000-0002-2883-7326|https://frl.publisso.de/adhoc/uri/Q29udGlubywgR2lhbm1hcmNv|http://orcid.org/0000-0002-5593-421X|https://frl.publisso.de/adhoc/uri/VG9qbywgTWFydGE=|http://orcid.org/0000-0002-0469-1043|http://orcid.org/0000-0002-2108-1861|http://orcid.org/0000-0002-4789-3374|http://orcid.org/0000-0002-3917-5524|https://frl.publisso.de/adhoc/uri/UHVpZ2dyw7JzLCBNb250c2VycmF0|https://frl.publisso.de/adhoc/uri/Q2hvbmcsIFplY2hlbg==|http://orcid.org/0000-0003-4013-5279|https://frl.publisso.de/adhoc/uri/TGVlLCBFdW5qdW5nIEFsaWNl|http://orcid.org/0000-0001-6591-1620|http://orcid.org/0000-0002-5634-1539|https://frl.publisso.de/adhoc/uri/QnV0bGVyLCBBZGFt|http://orcid.org/0000-0003-3042-9521|http://orcid.org/0000-0002-5640-9070|https://frl.publisso.de/adhoc/uri/U2NodW1hY2hlciwgU3RldmVuIEUu|http://orcid.org/0000-0002-9737-5516|https://frl.publisso.de/adhoc/uri/TWF1cmEsIEZyYW5jZXNjYQ==|https://frl.publisso.de/adhoc/uri/Qm9sbGksIE5pY2NvbG8=|http://orcid.org/0000-0002-3933-9656|https://frl.publisso.de/adhoc/uri/R2Vyc3RlaW4sIE1hcms=|http://orcid.org/0000-0001-9378-960X|https://frl.publisso.de/adhoc/uri/V2VkZ2UsIERhdmlkIEMu|https://frl.publisso.de/adhoc/uri/QmVyb3VraGltLCBSYW1lZW4=|https://frl.publisso.de/adhoc/uri/VG9ycmVudHMsIERhdmlk|http://orcid.org/0000-0002-2798-3794|https://frl.publisso.de/adhoc/uri/TWFydGluY29yZW5hLCBJbmlnbw==|http://orcid.org/0000-0002-3434-3568|http://orcid.org/0000-0003-0292-1949|https://frl.publisso.de/adhoc/uri/S2F6YXppYW4sIEhhaWcgSC4=|http://orcid.org/0000-0003-1620-3761|http://orcid.org/0000-0002-3921-0510|http://orcid.org/0000-0003-3540-2459|https://frl.publisso.de/adhoc/uri/aHR0cDovL29yY2lkLm9yZy8wMDAwLTAwMDMtMTYyMC0zNzYx|https://frl.publisso.de/adhoc/uri/UENBV0cgQ29uc29ydGl1bQ==
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