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

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 A. Rivas, Margaret Warren-Perry, Anna Zachariou, Adriana Campion-Flora, Sandra Hanks, Anne Murray, Naser Ansari Pour, Jenny Douglas, Lorna Gregory, Andrew Rimmer, Neil M. Walker, Tsun-Po Yang, Julian W. Adlard, Julian Barwell, Jonathan Berg, Angela F. Brady, Carole Brewer, Glen Brice, Cyril Chapman, Jackie Cook, Rosemarie Davidson, Alan Donaldson, Fiona Douglas, Diana Eccles, D. Gareth Evans, Lynn Greenhalgh, Alex Henderson, Louise Izatt, Ajith Kumar, Fiona Lalloo, Zosia Miedzybrodzka, Patrick J. Morrison, Joan Paterson, Mary Porteous, Mark T. Rogers, Susan Shanley, Lisa Walker, Martin Gore, Richard Houlston, Matthew A. Brown, Mark J. Caufield, Panagiotis Deloukas, Mark I. McCarthy, John A. Todd, Clare Turnbull, Jorge S. Reis-Filho, Alan Ashworth, Antonis C. Antoniou, Christopher J. Lord, Peter Donnelly and Nazneen Rahman ()
Additional contact information
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
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
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
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
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
Nazneen Rahman: The Institute of Cancer Research

Nature, 2013, vol. 493, issue 7432, 406-410

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.

Date: 2013
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DOI: 10.1038/nature11725

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