Extensive heterogeneity in somatic mutation and selection in the human bladder-Reference-Cited by-同舟云学术

Extensive heterogeneity in somatic mutation and selection in the human bladder

Published:2020-10-02 Issue:6512 Volume:370 Page:75-82
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Lawson Andrew R. J.¹^ORCID,Abascal Federico¹^ORCID,Coorens Tim H. H.¹^ORCID,Hooks Yvette¹,O’Neill Laura¹,Latimer Calli¹,Raine Keiran¹^ORCID,Sanders Mathijs A.¹²^ORCID,Warren Anne Y.³^ORCID,Mahbubani Krishnaa T. A.⁴⁵^ORCID,Bareham Bethany⁴⁵^ORCID,Butler Timothy M.¹^ORCID,Harvey Luke M. R.¹^ORCID,Cagan Alex¹^ORCID,Menzies Andrew¹,Moore Luiza¹³^ORCID,Colquhoun Alexandra J.⁶,Turner William⁶,Thomas Benjamin⁷⁸^ORCID,Gnanapragasam Vincent⁹¹⁰,Williams Nicholas¹^ORCID,Rassl Doris M.¹¹,Vöhringer Harald¹²^ORCID,Zumalave Sonia¹³^ORCID,Nangalia Jyoti¹,Tubío José M. C.¹³¹⁴¹⁵^ORCID,Gerstung Moritz¹²^ORCID,Saeb-Parsy Kourosh⁴⁵^ORCID,Stratton Michael R.¹^ORCID,Campbell Peter J.¹¹⁶^ORCID,Mitchell Thomas J.¹⁶^ORCID,Martincorena Iñigo¹^ORCID

Affiliation:

1. Cancer, Ageing and Somatic Mutation Programme, Wellcome Sanger Institute, Hinxton CB10 1SA, UK.

2. Department of Hematology, Erasmus University Medical Center, Rotterdam 3015 GD, Netherlands.

3. Department of Histopathology, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.

4. Department of Surgery, University of Cambridge, Cambridge CB2 0QQ, UK.

5. NIHR Cambridge Biomedical Research Centre, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.

6. Department of Urology, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK.

7. The Royal Melbourne Hospital, Parkville, Victoria 3010, Australia.

8. Department of Surgery, The University of Melbourne, Parkville, Victoria 3010, Australia.

9. Academic Urology Group, Department of Surgery and Oncology, University of Cambridge, Cambridge CB2 0QQ, UK.

10. Cambridge Urology Translational Research and Clinical Trials Office, University of Cambridge CB2 0QQ, UK.

11. Department of Pathology, Royal Papworth Hospital NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0AY, UK.

12. European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK.

13. Mobile Genomes and Disease, Center for Research in Molecular Medicine and Chronic Diseases (CiMUS), Universidade de Santiago de Compostela, Santiago de Compostela 15706, Spain.

14. Department of Zoology, Genetics and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela 15706, Spain.

15. The Biomedical Research Centre (CINBIO), University of Vigo, Vigo 36310, Spain.

16. Department of Haematology, University of Cambridge, Cambridge CB2 2XY, UK.

Abstract

Genetic profiles of the bladder Depending on the environment of the individual, the human bladder can be exposed to carcinogens as they are flushed through the body. Lawson et al. and Li et al. examined the genetic composition of laser-dissected microbiopsies from normal and cancer cells collected from the urothelium, a specialized epithelium lining the lower urinary tract (see the Perspective by Rozen). These complementary studies identified the mutational landscape of bladder urothelium through various sequencing strategies and identified high mutational heterogeneity within and between individuals and tumors. Both studies identified mutational profiles related to specific carcinogens such as aristolochic acid and the molecules found in tobacco. These studies present a comprehensive description of the diverse mutational landscape of the human bladder in health and disease, unraveling positive selection for cancer-causing mutations, a diversity of mutational processes, and large differences across individuals. Science , this issue p. 75 , p. 82 ; see also p. 34

Funder

Wellcome

Cancer Research UK

Ministerio de Economía y Competitividad

Xunta de Galicia

NIHR Cambridge Biomedical Research Centre

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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