Germline mutations in RAD51D confer susceptibility to ovarian cancer (original) (raw)

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Acknowledgements

We thank all the subjects and families that participated in the research. We thank A. Hall, D. Dudakia, J. Bull, R. Linger and A. Zachariou for their assistance in recruitment, B. Ebbs for assistance in DNA extraction and running the ABI sequencers, L. Thompson for the provision of cell lines and A. Strydom for assistance in preparing the manuscript. We are very grateful to all the clinicians and counselors in the Breast Cancer Susceptibility Collaboration UK (BCSC) that have contributed to the recruitment and collection of the Familial Breast Cancer Study (FBCS) samples. The full list of BCSC contributors is provided in the Supplementary Note. This work was funded by Cancer Research UK (C8620/A8372 and C8620/A8857), US Military Acquisition (ACQ) Activity, Era of Hope Award (W81XWH-05-1-0204), Breakthrough Breast Cancer and the Institute of Cancer Research (UK). We acknowledge NHS funding to the Royal Marsden/Institute of Cancer Research National Institute for Health Research (NIHR) Specialist Cancer Biomedical Research Centre. C.T. is a Medical Research Council (MRC)-funded Clinical Research Fellow. A.C.A. is a Cancer Research UK Senior Cancer Research Fellow (C12292/A11174). We acknowledge the use of DNA from the British 1958 Birth Cohort collection funded by the MRC grant G0000934 and the Wellcome Trust grant 068545/Z/02.

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Author notes

1. Chey Loveday, Clare Turnbull and Antonis C Antoniou: These authors contributed equally to this work.

Authors and Affiliations

1. Section of Cancer Genetics, The Institute of Cancer Research, Sutton, UK
   Chey Loveday, Clare Turnbull, Emma Ramsay, Deborah Hughes, Elise Ruark, Georgina Bowden, Bolot Kalmyrzaev, Margaret Warren-Perry, Katie Snape, Anthony Renwick, Sheila Seal & Nazneen Rahman
2. The Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK
   Jessica R Frankum, Christopher J Lord, Alan Ashworth & Jorge S Reis-Filho
3. Yorkshire Regional Centre for Cancer Treatment, Cookridge Hospital, Leeds, UK
   Julian W Adlard
4. Leicestershire Genetics Centre, University Hospitals of Leicester National Health Service (NHS) Trust, Leicester, UK
   Julian Barwell
5. Division of Medical Sciences, Human Genetics, University of Dundee, Dundee, UK
   Jonathan Berg
6. North West Thames Regional Genetics Service, Kennedy Galton Centre, London, UK
   Angela F Brady
7. Peninsula Regional Genetics Service, Royal Devon & Exeter Hospital, Exeter, UK
   Carole Brewer
8. South West Thames Regional Genetics Service, St. George's Hospital, London, UK
   Glen Brice
9. West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham, UK
   Cyril Chapman
10. Sheffield Regional Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK
    Jackie Cook
11. West of Scotland Regional Genetics Service, FergusonSmith Centre for Clinical Genetics, Glasgow, UK
    Rosemarie Davidson
12. South Western Regional Genetics Service, University Hospitals of Bristol NHS Foundation Trust, Bristol, UK
    Alan Donaldson
13. Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
    Fiona Douglas
14. Cheshire and Merseyside Clinical Genetics Service, Alder Hey Children's NHS Foundation Trust, Liverpool, UK
    Lynn Greenhalgh
15. Northern Genetics Service (Cumbria), Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, UK
    Alex Henderson
16. South East Thames Regional Genetics Service, Guy′s and St. Thomas NHS Foundation Trust, London, UK
    Louise Izatt
17. North East Thames Regional Genetics Service, Great Ormond St. Hospital, London, UK
    Ajith Kumar
18. University Department of Medical Genetics & Regional Genetics Service, St. Mary's Hospital, Manchester, UK
    Fiona Lalloo
19. University of Aberdeen and North of Scotland Clinical Genetics Service, Aberdeen Royal Infirmary, Aberdeen, UK
    Zosia Miedzybrodzka
20. Belfast Health and Social Care (HSC) Trust & Department of Medical Genetics, Northern Ireland Regional Genetics Service, Queen's University Belfast, Belfast, UK
    Patrick J Morrison
21. East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
    Joan Paterson
22. South East of Scotland Clinical Genetics Service, Western General Hospital, Edinburgh, UK
    Mary Porteous
23. All Wales Medical Genetics Service, University Hospital of Wales, Cardiff, UK
    Mark T Rogers
24. Royal Marsden NHS Foundation Trust, London, UK
    Susan Shanley
25. Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, Oxford, UK
    Lisa Walker
26. Faculty of Medicine, University of Southampton, Southampton University Hospitals NHS Trust, Southampton, UK
    Diana Eccles
27. University Department of Medical Genetics & Regional Genetics Service, St. Mary's Hospital, Manchester, UK
    D Gareth Evans
28. Department of Public Health and Primary Care, Center for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK
    Antonis C Antoniou

Authors

1. Chey Loveday
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2. Clare Turnbull
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3. Emma Ramsay
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4. Deborah Hughes
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5. Elise Ruark
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6. Jessica R Frankum
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7. Georgina Bowden
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8. Bolot Kalmyrzaev
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9. Margaret Warren-Perry
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10. Katie Snape
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11. Julian W Adlard
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12. Julian Barwell
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13. Jonathan Berg
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14. Angela F Brady
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15. Carole Brewer
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16. Glen Brice
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17. Cyril Chapman
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18. Jackie Cook
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19. Rosemarie Davidson
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20. Alan Donaldson
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21. Fiona Douglas
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22. Lynn Greenhalgh
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23. Alex Henderson
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24. Louise Izatt
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25. Ajith Kumar
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26. Fiona Lalloo
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27. Zosia Miedzybrodzka
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28. Patrick J Morrison
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29. Joan Paterson
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30. Mary Porteous
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31. Mark T Rogers
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32. Susan Shanley
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33. Lisa Walker
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34. Diana Eccles
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35. D Gareth Evans
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36. Anthony Renwick
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37. Sheila Seal
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38. Christopher J Lord
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39. Alan Ashworth
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40. Jorge S Reis-Filho
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41. Antonis C Antoniou
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42. Nazneen Rahman
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Consortia

Breast Cancer Susceptibility Collaboration (UK)

Contributions

N.R., C.L. and C.T. designed the experiment. M.W.-P., C.T. and N.R. coordinated recruitment to the FBCS. J.W.A., J. Barwell, J. Berg, A.F.B., C.B., G. Brice, C.C., J.C., R.D., A.D., F.D., D.G.E., D.E., L.G., A.H., L.I., A.K., F.L., Z.M., P.J.M., J.P., M.P., M.T.R., S. Shanley and L.W. coordinated the FBCS sample recruitment from their respective Genetics centers. C.L., E. Ramsay, D.H., G. Bowden, B.K., K.S., A.R. and S. Seal performed sequencing of RAD51D. J.R.F., C.J.L. and A.A. designed and conducted drug sensitivity experiments. J.S.R.-F. undertook examination and dissection of pathological specimens. C.T., E. Ruark and A.C.A. performed statistical analyses. C.L., C.T. and N.R. drafted the manuscript with substantial input from D.G.E., D.E., A.C.A., A.A. and J.S.R.-F. C.T. and N.R. oversaw and managed all aspects of the study.

Corresponding author

Correspondence toNazneen Rahman.

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Competing interests

The authors declare no competing financial interests.

Additional information

A full list of members appears in the Supplementary Note.

Supplementary information

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Loveday, C., Turnbull, C., Ramsay, E. et al. Germline mutations in RAD51D confer susceptibility to ovarian cancer.Nat Genet 43, 879–882 (2011). https://doi.org/10.1038/ng.893

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• Received: 03 March 2011
• Accepted: 01 July 2011
• Published: 07 August 2011
• Issue Date: September 2011
• DOI: https://doi.org/10.1038/ng.893