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Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

Author

Listed:
  • Elise Ruark

    (The Institute of Cancer Research)

  • Katie Snape

    (The Institute of Cancer Research)

  • Peter Humburg

    (The Wellcome Trust Centre for Human Genetics, University of Oxford)

  • Chey Loveday

    (The Institute of Cancer Research)

  • Ilirjana Bajrami

    (The Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research)

  • Rachel Brough

    (The Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research
    Cancer Research UK Gene Function Laboratory, The Institute of Cancer Research)

  • Daniel Nava Rodrigues

    (The Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research)

  • Anthony Renwick

    (The Institute of Cancer Research)

  • Sheila Seal

    (The Institute of Cancer Research)

  • Emma Ramsay

    (The Institute of Cancer Research)

  • Silvana Del Vecchio Duarte

    (The Institute of Cancer Research)

  • Manuel A. Rivas

    (The Wellcome Trust Centre for Human Genetics, University of Oxford
    University of Oxford)

  • Margaret Warren-Perry

    (The Institute of Cancer Research)

  • Anna Zachariou

    (The Institute of Cancer Research)

  • Adriana Campion-Flora

    (The Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research)

  • Sandra Hanks

    (The Institute of Cancer Research)

  • Anne Murray

    (The Institute of Cancer Research)

  • Naser Ansari Pour

    (The Institute of Cancer Research)

  • Jenny Douglas

    (The Institute of Cancer Research)

  • Lorna Gregory

    (The Wellcome Trust Centre for Human Genetics, University of Oxford)

  • Andrew Rimmer

    (The Wellcome Trust Centre for Human Genetics, University of Oxford)

  • Neil M. Walker

    (Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke’s Hospital)

  • Tsun-Po Yang

    (The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK)

  • Julian W. Adlard

    (Yorkshire Regional Genetics Service, Chapel Allerton Hospital)

  • Julian Barwell

    (Leicestershire Genetics Centre, University Hospitals of Leicester NHS Trust)

  • Jonathan Berg

    (Human Genetics, University of Dundee)

  • Angela F. Brady

    (NW Thames Regional Genetics Service, Kennedy Galton Centre, London HA1 3UJ, UK)

  • Carole Brewer

    (Peninsula Regional Genetics Service, Royal Devon & Exeter Hospital)

  • Glen Brice

    (SW Thames Regional Genetics Service, St George’s Hospital)

  • Cyril Chapman

    (West Midlands Regional Genetics Service, Birmingham Women’s Hospital)

  • Jackie Cook

    (Sheffield Regional Genetics Service, Sheffield Children’s NHS Foundation Trust)

  • Rosemarie Davidson

    (West of Scotland Regional Genetics Service, Laboratory Medicine, Southern General Hospital)

  • Alan Donaldson

    (South Western Regional Genetics Service, University Hospitals of Bristol NHS Foundation Trust)

  • Fiona Douglas

    (Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust)

  • Diana Eccles

    (Faculty of Medicine, University of Southampton, Southampton University Hospitals NHS Trust)

  • D. Gareth Evans

    (Genetic Medicine, Manchester Academic Health Science Centre, St Mary’s Hospital)

  • Lynn Greenhalgh

    (Merseyside and Cheshire Clinical Genetics Service, Liverpool Women’s NHS Foundation Trust)

  • Alex Henderson

    (Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust)

  • Louise Izatt

    (SE Thames Regional Genetics Service, Guy’s and St Thomas NHS Foundation Trust)

  • Ajith Kumar

    (NE Thames Regional Genetics Service, Great Ormond St Hospital)

  • Fiona Lalloo

    (St Mary’s Hospital)

  • Zosia Miedzybrodzka

    (University of Aberdeen and North of Scotland Clinical Genetics Service, Aberdeen Royal Infirmary, Aberdeen AB25 2ZA, UK)

  • Patrick J. Morrison

    (Northern Ireland Regional Genetics Service, Belfast HSC Trust, Queen’s University Belfast)

  • Joan Paterson

    (East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust)

  • Mary Porteous

    (South East of Scotland Clinical Genetics Service, Western General Hospital)

  • Mark T. Rogers

    (All Wales Medical Genetics Service, University Hospital of Wales)

  • Susan Shanley

    (Royal Marsden NHS Foundation Trust)

  • Lisa Walker

    (Oxford Regional Genetics Service, Oxford University Hospitals NHS Trust)

  • Martin Gore

    (Royal Marsden NHS Foundation Trust)

  • Richard Houlston

    (The Institute of Cancer Research)

  • Matthew A. Brown

    (University of Queensland Diamantina Institute, University of Queensland, Princess Alexandra Hospital, Woolloongabba, Brisbane 4102, Australia)

  • Mark J. Caufield

    (Clinical Pharmacology and Barts and The London Genome Centre, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London)

  • Panagiotis Deloukas

    (The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK)

  • Mark I. McCarthy

    (The Wellcome Trust Centre for Human Genetics, University of Oxford
    Oxford Centre for Diabetes, Endocrinology and Medicine, University of Oxford, Churchill Hospital
    Oxford NIHR Biomedical Research Centre, Churchill Hospital)

  • John A. Todd

    (Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke’s Hospital)

  • Clare Turnbull

    (The Institute of Cancer Research
    Royal Marsden NHS Foundation Trust)

  • Jorge S. Reis-Filho

    (The Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research)

  • Alan Ashworth

    (The Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research)

  • Antonis C. Antoniou

    (Centre for Cancer Genetic Epidemiology, University of Cambridge)

  • Christopher J. Lord

    (The Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research)

  • Peter Donnelly

    (The Wellcome Trust Centre for Human Genetics, University of Oxford
    University of Oxford)

  • Nazneen Rahman

    (The Institute of Cancer Research
    Royal Marsden NHS Foundation Trust)

Abstract

Rare truncating mutations in the p53-inducible protein phosphatase PPM1D are shown to be associated with predisposition to breast cancer and ovarian cancer; notably, all of the mutations are mosaic in white blood cells but are not present in tumours, and probably have a gain-of-function effect.

Suggested Citation

  • Elise Ruark & Katie Snape & Peter Humburg & Chey Loveday & Ilirjana Bajrami & Rachel Brough & Daniel Nava Rodrigues & Anthony Renwick & Sheila Seal & Emma Ramsay & Silvana Del Vecchio Duarte & Manuel , 2013. "Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer," Nature, Nature, vol. 493(7432), pages 406-410, January.
    • Handle: RePEc:nat:nature:v:493:y:2013:i:7432:d:10.1038_nature11725
    DOI: 10.1038/nature11725
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