Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans

Author:

Castillo Sandra D.1,Tzouanacou Elena23,Zaw-Thin May4,Berenjeno Inma M.1,Parker Victoria E.R.5,Chivite Iñigo6,Milà-Guasch Maria1,Pearce Wayne1,Solomon Isabelle1,Angulo-Urarte Ana6,Figueiredo Ana M.6,Dewhurst Robert E.2,Knox Rachel G.5,Clark Graeme R.7,Scudamore Cheryl L.8,Badar Adam4,Kalber Tammy L.4,Foster Julie9,Stuckey Daniel J.4,David Anna L.10,Phillips Wayne A.111213,Lythgoe Mark F.4,Wilson Valerie2,Semple Robert K.5,Sebire Neil J.1415,Kinsler Veronica A.1415,Graupera Mariona6,Vanhaesebroeck Bart1

Affiliation:

1. UCL Cancer Institute, University College London, London WC1E 6BT, UK.

2. MRC Centre for Regenerative Medicine, School of Biological Sciences, University of Edinburgh, Edinburgh EH16 4UU, UK.

3. Institut Pasteur, Département de Biologie du Développement, CNRS URA 2578, 75724 Paris cedex 15, France.

4. Centre for Advanced Biomedical Imaging, University College London, London WC1E 6BT, UK.

5. Institute of Metabolic Science, University of Cambridge, Addenbrooke’s Hospital, Cambridge CB2 0QQ, UK.

6. Vascular Signaling Laboratory, Institut d’Investigació Biomèdica de Bellvitge (IDIBELL), L’Hospitalet de Llobregat, Barcelona 08908, Spain.

7. Department of Medical Genetics, School of Clinical Medicine, University of Cambridge, Cambridge CB2 0SP, UK.

8. Mary Lyon Centre, MRC Harwell, Harwell OX11 0RD, UK.

9. Barts Cancer Institute, Queen Mary University of London, London EC1M 6BQ, UK.

10. UCL Institute for Women’s Health, London WC1E 6BT, UK.

11. Cancer Biology and Surgical Oncology Laboratory, Peter MacCallum Cancer Centre, Melbourne, Victoria 3002, Australia.

12. Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria 3010, Australia.

13. Department of Surgery (St. Vincent’s Hospital), University of Melbourne, Parkville, Victoria 3010, Australia.

14. UCL Institute of Child Health, London WC1N 1EH, UK.

15. Great Ormond Street Hospital for Children, NHS Foundation Trust, London WC1N 3JH, UK.

Abstract

Mutant Pik3ca gives rise to venous malformations.

Funder

EMBO

European Union (EU) Marie Curie

EU Marie Curie

Engineering and Physical Sciences Research Council

British Heart Foundation (BHF)

UK National Institute for Health Research (NIHR)

Medical Research Council (MRC)

NIHR Rare Diseases Translational Research Collaboration

Wellcome Trust

European Framework Programme VI (FPVI)

King's College London

UCL Comprehensive Cancer Imaging Centre Cancer Research UK

EPSRC

National Health and Medical Research Council (NHMRC)

MINECO

Catalan Government

EU's Seventh Framework Programme

REA

Institute of Health Carlos III

European Regional Development Fund (ERDF)

Cancer Research UK

UK NIHR University College London Hospitals Biomedical Research Centre

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

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