Evidence map›Paper›PMID 21822267›Full record

ArticleNature genetics2011

Germline mutations in RAD51D confer susceptibility to ovarian cancer.

Chey Loveday, Clare Turnbull, Emma Ramsay, Deborah Hughes, Elise Ruark, Jessica R Frankum, Georgina Bowden, Bolot Kalmyrzaev, Margaret Warren-Perry, Katie Snape and 33 more

Open access · greenAbstract read
In one paragraph

Article in Nature genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 280 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
280citing papers in PubMed, 6 pooled it
14.9field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

280 citing papers in PubMed, 6 syntheses or guidelines pooled it, 531 citations in OpenAlex.

  1. Guideline
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Pooled it
  6. Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2020
    Pooled it
  7. Trial
  8. Trial
  9. Article
  10. Review
  11. Review
  12. Review
  13. Impact of germlineMolecular therapy. Oncology · 2026
    Article
  14. bioRxiv : the preprint server for biology · 2026
    Article
  15. Review
  16. Article
  17. Article
  18. Article
  19. Article
  20. Review

220 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

43 authors at 20 institutions in 1 country.

Chey Loveday *Section of Cancer Genetics, The Institute of Cancer Research, Sutton.
Clare Turnbull *Section of Cancer Genetics, The Institute of Cancer Research, Sutton.
Emma RamsaySection of Cancer Genetics, The Institute of Cancer Research, Sutton.
Deborah HughesSection of Cancer Genetics, The Institute of Cancer Research, Sutton.
Elise RuarkSection of Cancer Genetics, The Institute of Cancer Research, Sutton.
Jessica R FrankumThe Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, Fulham Road, London.
Georgina BowdenSection of Cancer Genetics, The Institute of Cancer Research, Sutton.
Bolot KalmyrzaevSection of Cancer Genetics, The Institute of Cancer Research, Sutton.
Margaret Warren-PerrySection of Cancer Genetics, The Institute of Cancer Research, Sutton.
Katie SnapeSection of Cancer Genetics, The Institute of Cancer Research, Sutton.
Julian W AdlardYorkshire Regional Centre for Cancer Treatment, Cookridge Hospital, Leeds.
Julian BarwellLeicestershire Genetics Centre, University Hospitals of Leicester NHS Trust.
Jonathan BergHuman genetics, Division of Medical Sciences, University of Dundee.
Angela F BradyNW Thames Regional Genetics Service, Kennedy Galton Centre, London.
Carole BrewerPeninsula Regional Genetics Service, Royal Devon & Exeter Hospital, Exeter.
Glen BriceSW Thames Regional Genetics Service, St George's Hospital, London.
Cyril ChapmanWest Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham.
Jackie CookSheffield Regional Genetics Service, Sheffield Children's NHS Foundation Trust.
Rosemarie DavidsonWest of Scotland Regional Genetics Service, FergusonSmith Centre for Clinical Genetics, Glasgow.
Alan DonaldsonSouth Western Regional Genetics Service, University Hospitals of Bristol NHS Foundation Trust.
Fiona DouglasNorthern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust.
Lynn GreenhalghCheshire and Merseyside Clinical Genetics Service, Alder Hey Children's NHS Foundation Trust, Liverpool.
Alex HendersonNorthern Genetics Service (Cumbria), Newcastle upon Tyne Hospitals NHS Trust.
Louise IzattSE Thames Regional Genetics Service, Guy's and St Thomas NHS Foundation Trust.
Ajith KumarNE Thames Regional Genetics Service, Great Ormond St Hospital, London.
Fiona LallooUniversity Dept of Medical Genetics & Regional Genetics Service, St Mary's Hospital, Manchester.
Zosia MiedzybrodzkaUniversity of Aberdeen and North of Scotland Clinical Genetics Service, Aberdeen Royal Infirmary.
Patrick J MorrisonNorthern Ireland Regional Genetics Service, Belfast HSC Trust, & Department of Medical Genetics, Queen's University Belfast.
Joan PatersonEast Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust.
Mary PorteousSouth East of Scotland Clinical Genetics Service, Western General Hospital, Edinburgh.
Mark T RogersAll Wales Medical Genetics Service, University Hospital of Wales, Cardiff.
Susan ShanleyRoyal Marsden NHS Foundation Trust, Royal Marsden NHS Foundation Trust.
Lisa WalkerOxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust.
Breast Cancer Susceptibility Collaboration (UK)
Diana EcclesFaculty of Medicine, University of Southampton, Southampton University Hospitals NHS Trust.
D Gareth EvansUniversity Dept of Medical Genetics & Regional Genetics Service, St Mary's Hospital, Manchester.
Anthony RenwickSection of Cancer Genetics, The Institute of Cancer Research, Sutton.
Sheila SealSection of Cancer Genetics, The Institute of Cancer Research, Sutton.
Christopher J LordThe Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, Fulham Road, London.
Alan AshworthThe Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, Fulham Road, London.
Jorge S Reis-FilhoThe Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, Fulham Road, London.
Antonis C AntoniouCenter for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge.
Nazneen RahmanSection of Cancer Genetics, The Institute of Cancer Research, Sutton.
Institute of Cancer Research · GBAlder Hey Children's NHS Foundation Trust · GBBirmingham Women's Hospital · GBBreast Cancer Now · GBCambridge University Hospitals NHS Foundation Trust · GBGreat Ormond Street Hospital · GBGuy's and St Thomas' NHS Foundation Trust · GBNewcastle upon Tyne Hospital · GBQueen's University Belfast · GBRoyal Devon and Exeter Hospital · GBRoyal Marsden NHS Foundation Trust · GBSheffield Children's NHS Foundation Trust · GBSt George's Hospital · GBSt Mary's Hospital · GBSt. Mary's Hospital · GBUniversity Hospital of Wales · GBUniversity Hospitals Bristol NHS Foundation Trust · GBUniversity Hospitals of Leicester NHS Trust · GBUniversity of Aberdeen · GBUniversity of Cambridge · GB

Funding

Breast Cancer Now BREAST CANCER NOW RESEARCH CENTRECancer Research UK 11174Cancer Research UK A8372Cancer Research UK A8857Cancer Research UK C12292/A11174Cancer Research UK C8620/A8372Cancer Research UK C8620/A8857Medical Research Council G0000934Medical Research Council G0700491Wellcome TrustWellcome Trust 068545/Z/02
6 · The paper itself

Abstract

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.

Indexed as

Genetic Predisposition to DiseaseGerm-Line MutationAge FactorsAnimalsCHO CellsCricetinaeCricetulusDNA-Binding ProteinsDrug Resistance, NeoplasmFemaleHeterozygoteHumansOvarian NeoplasmsPedigreePoly(ADP-ribose) Polymerase InhibitorsDNA-Binding ProteinsPoly(ADP-ribose) Polymerase InhibitorsRAD51D protein, human

Identifiers

PMID21822267
PMCPMC4845885
OpenAlexW2135195813

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.