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Nat Genet. 2011 Aug 7;43(9):879-882. doi: 10.1038/ng.893.

Germline mutations in RAD51D confer susceptibility to ovarian cancer.

Collaborators (184)

Ardern-Jones A, Adlard J, Attard G, Bailey K, Bancroft E, Bardsley C, Barton D, Barwell J, Baxter L, Belk R, Berg J, Bishop T, Boyes L, Bradshaw N, Brady A, Brant S, Brewer C, Brice G, Bromilow G, Brooks C, Bruce A, Bulman B, Burgess L, Campbell J, Castle B, Cetnarskyj R, Chapman C, Claber O, Coates N, Cole T, Collins A, Cook J, Coulson S, Crawford G, Cruger D, Cummings C, D'Mello L, Davidson R, Day L, de Silva L, Dell B, Dolling C, Donaldson A, Donaldson A, Dorkins H, Douglas F, Downing S, Drummond S, Dunlop J, Durrell S, Eccles D, Eddy C, Edwards M, Edwards E, Edwardson J, Eeles R, Ellis I, Elmslie F, Evans G, Gibbens B, Gardiner C, Giblin C, Gibson S, Goff S, Goodman S, Goudie D, Greenhalgh L, Greer J, Gregory H, Halliday D, Hardy R, Hartigan C, Heaton T, Henderson A, Higgins C, Hodgson S, Holt T, Homfray T, Horrigan D, Houghton C, Houlston RS, Hughes L, Hunt V, Irvine L, Izatt L, Jackson L, Jacobs C, James S, James M, Jeffers L, Jobson I, Jones W, Kennedy MJ, Kenwrick S, Kightley C, Kirk C, Kirk L, Kivuva E, Kumar A, Lalloo F, Lambord N, Langman C, Leonard P, Levene S, Locker S, Logan P, Longmuir M, Lucassen A, Lyus V, Magee A, Male A, Mansour S, McBride D, McCann E, McConnell V, McEntagart M, McDermot K, McKeown C, McLeish L, McLeod D, Mercer L, Mercer C, Miedzybrodzka Z, Miller J, Mitra A, Morrison P, Murday V, Murray A, Myring J, Paterson J, Pearson P, Pichert G, Platt K, Porteous M, Pottinger C, Price S, Protheroe L, Pugh S, Quarrell O, Riddick C, Robertson L, Robinson A, Roffey-Johnson V, Rogers M, Rose S, Rowe S, Schofield A, Rahman N, Scott G, Scott J, Searle A, Shanley S, Sharif S, Shaw J, Shea-Simonds J, Side L, Sillibourne J, Simon K, Simpson S, Slater S, Smith K, Snadden L, Soloway J, Stait Y, Stayner B, Steel M, Steel C, Stewart H, Stirling D, Thomas M, Thomas S, Tomkins S, Turner H, Tyler E, Wakeling E, Waldrup F, Walker L, Watt C, Watts S, Webber A, Whyte C, Wiggins J, Williams E, Winchester L.

Author information

Section of Cancer Genetics, The Institute of Cancer Research, Sutton.
The Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, Fulham Road, London.
Yorkshire Regional Centre for Cancer Treatment, Cookridge Hospital, Leeds.
Leicestershire Genetics Centre, University Hospitals of Leicester NHS Trust.
Human genetics, Division of Medical Sciences, University of Dundee.
NW Thames Regional Genetics Service, Kennedy Galton Centre, London.
Peninsula Regional Genetics Service, Royal Devon & Exeter Hospital, Exeter.
SW Thames Regional Genetics Service, St George's Hospital, London.
West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham.
Sheffield Regional Genetics Service, Sheffield Children's NHS Foundation Trust.
West of Scotland Regional Genetics Service, FergusonSmith Centre for Clinical Genetics, Glasgow.
South Western Regional Genetics Service, University Hospitals of Bristol NHS Foundation Trust.
Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust.
Cheshire and Merseyside Clinical Genetics Service, Alder Hey Children's NHS Foundation Trust, Liverpool.
Northern Genetics Service (Cumbria), Newcastle upon Tyne Hospitals NHS Trust.
SE Thames Regional Genetics Service, Guy's and St Thomas NHS Foundation Trust.
NE Thames Regional Genetics Service, Great Ormond St Hospital, London.
University Dept of Medical Genetics & Regional Genetics Service, St Mary's Hospital, Manchester.
University of Aberdeen and North of Scotland Clinical Genetics Service, Aberdeen Royal Infirmary.
Northern Ireland Regional Genetics Service, Belfast HSC Trust, & Department of Medical Genetics, Queen's University Belfast.
East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust.
South East of Scotland Clinical Genetics Service, Western General Hospital, Edinburgh.
All Wales Medical Genetics Service, University Hospital of Wales, Cardiff.
Royal Marsden NHS Foundation Trust, Royal Marsden NHS Foundation Trust.
Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust.
Faculty of Medicine, University of Southampton, Southampton University Hospitals NHS Trust.
Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge.
Contributed equally


Recently, RAD51C mutations were identified in families with breast and ovarian cancer. This observation prompted us to investigate the role of RAD51D in cancer susceptibility. We identified eight inactivating RAD51D mutations in unrelated individuals from 911 breast-ovarian cancer families compared with one inactivating mutation identified in 1,060 controls (P = 0.01). The association found here was principally with ovarian cancer, with three mutations identified in the 59 pedigrees with three or more individuals with ovarian cancer (P = 0.0005). The relative risk of ovarian cancer for RAD51D mutation carriers was estimated to be 6.30 (95% CI 2.86-13.85, P = 4.8 × 10(-6)). By contrast, we estimated the relative risk of breast cancer to be 1.32 (95% CI 0.59-2.96, P = 0.50). These data indicate that RAD51D mutation testing may have clinical utility in individuals with ovarian cancer and their families. Moreover, we show that cells deficient in RAD51D are sensitive to treatment with a PARP inhibitor, suggesting a possible therapeutic approach for cancers arising in RAD51D mutation carriers.

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