Skip to main content
bioRxiv
  • Home
  • About
  • Submit
  • ALERTS / RSS
Advanced Search
New Results

The whole-genome panorama of cancer drivers

View ORCID ProfileRadhakrishnan Sabarinathan, View ORCID ProfileOriol Pich, View ORCID ProfileIñigo Martincorena, View ORCID ProfileCarlota Rubio-Perez, View ORCID ProfileMalene Juul, View ORCID ProfileJeremiah Wala, View ORCID ProfileSteven Schumacher, Ofer Shapira, View ORCID ProfileNikos Sidiropoulos, View ORCID ProfileSebastian M. Waszak, View ORCID ProfileDavid Tamborero, View ORCID ProfileLoris Mularoni, View ORCID ProfileEsther Rheinbay, View ORCID ProfileHenrik Hornshøj, View ORCID ProfileJordi Deu-Pons, Ferran Muiños, View ORCID ProfileJohanna Bertl, View ORCID ProfileQianyun Guo, Chad J. Creighton, View ORCID ProfileJoachim Weischenfeldt, View ORCID ProfileJan O. Korbel, View ORCID ProfileGad Getz, Peter J. Campbell, View ORCID ProfileJakob S. Pedersen, Rameen Beroukhim, View ORCID ProfileAbel Gonzalez-Perez, View ORCID ProfileNúria López-Bigas, on behalf of the PCAWG Drivers and Functional Interpretation Group and the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Network
doi: https://doi.org/10.1101/190330
Radhakrishnan Sabarinathan
1Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Baldiri Reixac, 10, 08028 Barcelona, Spain
2Research Program on Biomedical Informatics, Universitat Pompeu Fabra, Barcelona, Catalonia, Spain
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Radhakrishnan Sabarinathan
Oriol Pich
1Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Baldiri Reixac, 10, 08028 Barcelona, Spain
2Research Program on Biomedical Informatics, Universitat Pompeu Fabra, Barcelona, Catalonia, Spain
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Oriol Pich
Iñigo Martincorena
3Wellcome Trust Sanger Institute, Hinxton CB10 1SA, Cambridgeshire, UK
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Iñigo Martincorena
Carlota Rubio-Perez
1Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Baldiri Reixac, 10, 08028 Barcelona, Spain
2Research Program on Biomedical Informatics, Universitat Pompeu Fabra, Barcelona, Catalonia, Spain
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Carlota Rubio-Perez
Malene Juul
4Department of Molecular Medicine (MOMA), Aarhus University Hospital, Aarhus, DK-8000, Denmark
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Malene Juul
Jeremiah Wala
5Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Jeremiah Wala
Steven Schumacher
5Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Steven Schumacher
Ofer Shapira
5Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Nikos Sidiropoulos
6BRIC/Finsen Laboratory, Rigshospitalet, Copenhagen, 2200, Denmark
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Nikos Sidiropoulos
Sebastian M. Waszak
7European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Sebastian M. Waszak
David Tamborero
1Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Baldiri Reixac, 10, 08028 Barcelona, Spain
2Research Program on Biomedical Informatics, Universitat Pompeu Fabra, Barcelona, Catalonia, Spain
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for David Tamborero
Loris Mularoni
1Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Baldiri Reixac, 10, 08028 Barcelona, Spain
2Research Program on Biomedical Informatics, Universitat Pompeu Fabra, Barcelona, Catalonia, Spain
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Loris Mularoni
Esther Rheinbay
5Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA
8Massachusetts General Hospital, Center for Cancer Research, Charlestown, Massachusetts 02129, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Esther Rheinbay
Henrik Hornshøj
4Department of Molecular Medicine (MOMA), Aarhus University Hospital, Aarhus, DK-8000, Denmark
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Henrik Hornshøj
Jordi Deu-Pons
1Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Baldiri Reixac, 10, 08028 Barcelona, Spain
2Research Program on Biomedical Informatics, Universitat Pompeu Fabra, Barcelona, Catalonia, Spain
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Jordi Deu-Pons
Ferran Muiños
1Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Baldiri Reixac, 10, 08028 Barcelona, Spain
2Research Program on Biomedical Informatics, Universitat Pompeu Fabra, Barcelona, Catalonia, Spain
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Johanna Bertl
4Department of Molecular Medicine (MOMA), Aarhus University Hospital, Aarhus, DK-8000, Denmark
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Johanna Bertl
Qianyun Guo
9Bioinformatics Research Centre (BiRC), Aarhus University, Aarhus, Denmark
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Qianyun Guo
Chad J. Creighton
10Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Medicine, Baylor College of Medicine, Houston, TX 77030, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Joachim Weischenfeldt
6BRIC/Finsen Laboratory, Rigshospitalet, Copenhagen, 2200, Denmark
7European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Joachim Weischenfeldt
Jan O. Korbel
7European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany
11European Molecular Biology Laboratory (EMBL), EMBL-European Bioinformatics Institute, Hinxton, UK
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Jan O. Korbel
Gad Getz
5Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA
8Massachusetts General Hospital, Center for Cancer Research, Charlestown, Massachusetts 02129, USA
12Massachusetts General Hospital, Department of Pathology, Boston, Massachusetts 02114, USA
13Harvard Medical School, Boston, 02215, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Gad Getz
Peter J. Campbell
14Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA UK
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Jakob S. Pedersen
4Department of Molecular Medicine (MOMA), Aarhus University Hospital, Aarhus, DK-8000, Denmark
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Jakob S. Pedersen
Rameen Beroukhim
5Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Abel Gonzalez-Perez
1Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Baldiri Reixac, 10, 08028 Barcelona, Spain
2Research Program on Biomedical Informatics, Universitat Pompeu Fabra, Barcelona, Catalonia, Spain
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Abel Gonzalez-Perez
Núria López-Bigas
1Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Baldiri Reixac, 10, 08028 Barcelona, Spain
2Research Program on Biomedical Informatics, Universitat Pompeu Fabra, Barcelona, Catalonia, Spain
15Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Núria López-Bigas
  • For correspondence: nuria.lopez@irbbarcelona.org
  • Abstract
  • Full Text
  • Info/History
  • Metrics
  • Supplementary material
  • Preview PDF
Loading

SUMMARY

The advance of personalized cancer medicine requires the accurate identification of the mutations driving each patient’s tumor. However, to date, we have only been able to obtain partial insights into the contribution of genomic events to tumor development. Here, we design a comprehensive approach to identify the driver mutations in each patient’s tumor and obtain a whole-genome panorama of driver events across more than 2,500 tumors from 37 types of cancer. This panorama includes coding and non-coding point mutations, copy number alterations and other genomic rearrangements of somatic origin, and potentially predisposing germline variants. We demonstrate that genomic events are at the root of virtually all tumors, with each carrying on average 4.6 driver events. Most individual tumors harbor a unique combination of drivers, and we uncover the most frequent co-occurring driver events. Half of all cancer genes are affected by several types of driver mutations. In summary, the panorama described here provides answers to fundamental questions in cancer genomics and bridges the gap between cancer genomics and personalized cancer medicine.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
Back to top
PreviousNext
Posted December 23, 2017.
Download PDF

Supplementary Material

Email

Thank you for your interest in spreading the word about bioRxiv.

NOTE: Your email address is requested solely to identify you as the sender of this article.

Enter multiple addresses on separate lines or separate them with commas.
The whole-genome panorama of cancer drivers
(Your Name) has forwarded a page to you from bioRxiv
(Your Name) thought you would like to see this page from the bioRxiv website.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Share
The whole-genome panorama of cancer drivers
Radhakrishnan Sabarinathan, Oriol Pich, Iñigo Martincorena, Carlota Rubio-Perez, Malene Juul, Jeremiah Wala, Steven Schumacher, Ofer Shapira, Nikos Sidiropoulos, Sebastian M. Waszak, David Tamborero, Loris Mularoni, Esther Rheinbay, Henrik Hornshøj, Jordi Deu-Pons, Ferran Muiños, Johanna Bertl, Qianyun Guo, Chad J. Creighton, Joachim Weischenfeldt, Jan O. Korbel, Gad Getz, Peter J. Campbell, Jakob S. Pedersen, Rameen Beroukhim, Abel Gonzalez-Perez, Núria López-Bigas, on behalf of the PCAWG Drivers and Functional Interpretation Group and the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Network
bioRxiv 190330; doi: https://doi.org/10.1101/190330
Digg logo Reddit logo Twitter logo Facebook logo Google logo LinkedIn logo Mendeley logo
Citation Tools
The whole-genome panorama of cancer drivers
Radhakrishnan Sabarinathan, Oriol Pich, Iñigo Martincorena, Carlota Rubio-Perez, Malene Juul, Jeremiah Wala, Steven Schumacher, Ofer Shapira, Nikos Sidiropoulos, Sebastian M. Waszak, David Tamborero, Loris Mularoni, Esther Rheinbay, Henrik Hornshøj, Jordi Deu-Pons, Ferran Muiños, Johanna Bertl, Qianyun Guo, Chad J. Creighton, Joachim Weischenfeldt, Jan O. Korbel, Gad Getz, Peter J. Campbell, Jakob S. Pedersen, Rameen Beroukhim, Abel Gonzalez-Perez, Núria López-Bigas, on behalf of the PCAWG Drivers and Functional Interpretation Group and the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Network
bioRxiv 190330; doi: https://doi.org/10.1101/190330

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
  • Tweet Widget
  • Facebook Like
  • Google Plus One

Subject Area

  • Cancer Biology
Subject Areas
All Articles
  • Animal Behavior and Cognition (4094)
  • Biochemistry (8784)
  • Bioengineering (6490)
  • Bioinformatics (23377)
  • Biophysics (11761)
  • Cancer Biology (9164)
  • Cell Biology (13267)
  • Clinical Trials (138)
  • Developmental Biology (7420)
  • Ecology (11380)
  • Epidemiology (2066)
  • Evolutionary Biology (15110)
  • Genetics (10408)
  • Genomics (14017)
  • Immunology (9133)
  • Microbiology (22086)
  • Molecular Biology (8792)
  • Neuroscience (47417)
  • Paleontology (350)
  • Pathology (1421)
  • Pharmacology and Toxicology (2483)
  • Physiology (3710)
  • Plant Biology (8060)
  • Scientific Communication and Education (1433)
  • Synthetic Biology (2213)
  • Systems Biology (6019)
  • Zoology (1251)