Evidence map›Paper›PMID 35027648›Full record

ArticleEuropean journal of human genetics : EJHG2022

Polygenic risk modeling for prediction of epithelial ovarian cancer risk.

Eileen O Dareng, Jonathan P Tyrer, Daniel R Barnes, Michelle R Jones, Xin Yang, Katja K H Aben, Muriel A Adank, Simona Agata, Irene L Andrulis, Hoda Anton-Culver and 257 more

Erratum issued Registry-linked trialOpen access · hybridAbstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT06564428 (A Cohort Study of Hereditary Ovarian Cancer Risk Prediction Models and Pathogenesis Exploration), which is not on this map. Cited by 51 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
51citing papers in PubMed, 1 pooled it
12.2field-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.

NCT06564428 recruitingnot on this mapstarted 2024, after this paper: background citation

A Cohort Study of Hereditary Ovarian Cancer Risk Prediction Models and Pathogenesis Exploration

TypeobservationalSponsorPeking University Third HospitalRan2024 to 2026Enrolled1,000ConditionsOvarian NeoplasmsArmsSuspective gene mutations and family history
3 · Its place in the literature

Who cites it

51 citing papers in PubMed, 1 synthesis or guideline pooled it, 66 citations in OpenAlex.

  1. Guideline
  2. Using Polygenic Risk Scores to Refine Risk and Outcomes in High-grade Serous Ovarian Cancer in Australia.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026
    Article
  3. Review
  4. Polygenic risk scores in cancer.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026
    Article
  5. Article
  6. Review
  7. ConstitutionalJCO precision oncology · 2026
    Observational
  8. Article
  9. Improving ovarian cancer risk assessment using a machine learning model developed on data from the Prostate Lung Colorectal Ovarian Cancer Screening Trial.International journal of gynecological cancer : official journal of the International Gynecological Cancer Society · 2026
    Article
  10. Article
  11. Review
  12. Article
  13. Review
  14. Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. BeyondmedRxiv : the preprint server for health sciences · 2025
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

267 authors at 20 institutions in 34 countries.

Eileen O Dareng *University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.ORCID 0000-0003-0802-419X
Jonathan P Tyrer *University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Oncology, Cambridge, UK.ORCID 0000-0003-3724-4757
Daniel R BarnesUniversity of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.ORCID 0000-0002-3781-7570
Michelle R JonesCenter for Bioinformatics and Functional Genomics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Xin YangUniversity of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.ORCID 0000-0003-0037-3790
Katja K H AbenRadboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands.
Muriel A AdankThe Netherlands Cancer Institute-Antoni van Leeuwenhoek hospital, Family Cancer Clinic, Amsterdam, The Netherlands.
Simona AgataVeneto Institute of Oncology IOV-IRCCS, Immunology and Molecular Oncology Unit, Padua, Italy.
Irene L AndrulisLunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Fred A. Litwin Center for Cancer Genetics, Toronto, ON, Canada.ORCID 0000-0002-4226-6435
Hoda Anton-CulverUniversity of California Irvine, Department of Epidemiology, Genetic Epidemiology Research Institute, Irvine, CA, USA.
Natalia N AntonenkovaN.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus.
Gerasimos Aravantinos'Agii Anargiri' Cancer Hospital, Athens, Greece.
Banu K ArunUniversity of Texas MD Anderson Cancer Center, Department of Breast Medical Oncology, Houston, TX, USA.
Annelie AugustinssonLund University, Department of Cancer Epidemiology, Clinical Sciences, Lund, Sweden.ORCID 0000-0003-3415-0536
Judith BalmañaVall d'Hebron Institute of Oncology, Hereditary cancer Genetics Group, Barcelona, Spain.
Elisa V BanderaRutgers Cancer Institute of New Jersey, Cancer Prevention and Control Program, New Brunswick, NJ, USA.
Rosa B BarkardottirLandspitali University Hospital, Department of Pathology, Reykjavik, Iceland.
Daniel BarrowdaleUniversity of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.ORCID 0000-0003-1661-3939
Matthias W BeckmannUniversity Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Department of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, Erlangen, Germany.
Alicia Beeghly-FadielVanderbilt University School of Medicine, Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Nashville, TN, USA.
Javier BenitezBiomedical Network on Rare Diseases (CIBERER), Madrid, Spain.
Marina BermishevaUfa Federal Research Centre of the Russian Academy of Sciences, Institute of Biochemistry and Genetics, Ufa, Russia.
Marcus Q BernardiniPrincess Margaret Hospital, Division of Gynecologic Oncology, University Health Network, Toronto, ON, Canada.
Line BjorgeHaukeland University Hospital, Department of Obstetrics and Gynecology, Bergen, Norway.
Amanda BlackNational Cancer Institute, Division of Cancer Epidemiology and Genetics, Bethesda, MD, USA.
Natalia V BogdanovaN.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus.
Bernardo BonanniIEO, European Institute of Oncology IRCCS, Division of Cancer Prevention and Genetics, Milan, Italy.ORCID 0000-0003-3589-2128
Ake BorgLund University and Skåne University Hospital, Department of Oncology, Lund, Sweden.
James D BrentonCancer Research UK Cambridge Institute, University of Cambridge, Cambridge, UK.ORCID 0000-0002-5738-6683
Agnieszka BudzilowskaMaria Sklodowska-Curie National Research Institute of Oncology, Department of Pathology and Laboratory Diagnostics, Warsaw, Poland.
Ralf ButzowUniversity of Helsinki, Department of Pathology, Helsinki University Hospital, Helsinki, Finland.ORCID 0000-0003-4366-5099
Saundra S BuysHuntsman Cancer Institute, Department of Medicine, Salt Lake City, UT, USA.
Hui CaiVanderbilt University School of Medicine, Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Nashville, TN, USA.
Maria A CaligoUniversity Hospital, SOD Genetica Molecolare, Pisa, Italy.
Ian CampbellPeter MacCallum Cancer Center, Melbourne, VIC, Australia.ORCID 0000-0002-7773-4155
Rikki CanniotoRoswell Park Cancer Institute, Cancer Pathology & Prevention, Division of Cancer Prevention and Population Sciences, Buffalo, NY, USA.
Hayley CassinghamDivision of Human Genetics, The Ohio State University, Department of Internal Medicine, Columbus, OH, USA.
Jenny Chang-ClaudeGerman Cancer Research Center (DKFZ), Division of Cancer Epidemiology, Heidelberg, Germany.
Stephen J ChanockNational Cancer Institute, National Institutes of Health, Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, Bethesda, MD, USA.ORCID 0000-0002-2324-3393
Kexin ChenTianjin Medical University Cancer Institute and Hospital, Department of Epidemiology, Tianjin, China.
Yoke-Eng ChiewThe University of Sydney, Centre for Cancer Research, The Westmead Institute for Medical Research, Sydney, NSW, Australia.
Wendy K ChungColumbia University, Departments of Pediatrics and Medicine, New York, NY, USA.
Kathleen B M ClaesGhent University, Centre for Medical Genetics, Gent, Belgium.ORCID 0000-0003-0841-7372
Sarah ColonnaHuntsman Cancer Institute, Department of Medicine, Salt Lake City, UT, USA.
GEMO Study Collaborators
GC-HBOC Study Collaborators
EMBRACE Collaborators
Linda S CookUniversity of New Mexico, University of New Mexico Health Sciences Center, Albuquerque, NM, USA.
Fergus J CouchMayo Clinic, Department of Laboratory Medicine and Pathology, Rochester, MN, USA.
Mary B DalyFox Chase Cancer Center, Department of Clinical Genetics, Philadelphia, PA, USA.
Fanny DaoMemorial Sloan Kettering Cancer Center, Gynecology Service, Department of Surgery, New York, NY, USA.
Eleanor DaviesCambridge, Cambridge, UK.
Miguel de la HoyaCIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Molecular Oncology Laboratory, Madrid, Spain.ORCID 0000-0002-8113-1410
Robin de PutterGhent University, Centre for Medical Genetics, Gent, Belgium.ORCID 0000-0001-9410-8941
Joe DennisUniversity of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.ORCID 0000-0003-4591-1214
Allison DePersiaNorthShore University Health System, Center for Medical Genetics, Evanston, IL, USA.
Peter DevileeLeiden University Medical Center, Department of Pathology, Leiden, The Netherlands.ORCID 0000-0002-8023-2009
Orland DiezVall dHebron Institute of Oncology (VHIO), Oncogenetics Group, Barcelona, Spain.
Yuan Chun DingBeckman Research Institute of City of Hope, Department of Population Sciences, Duarte, CA, USA.
Jennifer A DohertyUniversity of Utah, Huntsman Cancer Institute, Department of Population Health Sciences, Salt Lake City, UT, USA.
Susan M DomchekUniversity of Pennsylvania, Basser Center for BRCA, Abramson Cancer Center, Philadelphia, PA, USA.
Thilo DörkHannover Medical School, Gynaecology Research Unit, Hannover, Germany.
Andreas du BoisEv. Kliniken Essen-Mitte (KEM), Department of Gynecology and Gynecologic Oncology, Essen, Germany.ORCID 0000-0002-8477-506X
Matthias DürstJena University Hospital-Friedrich Schiller University, Department of Gynaecology, Jena, Germany.
Diana M EcclesUniversity of Southampton, Faculty of Medicine, Southampton, UK.
Heather A EliassenHarvard T.H. Chan School of Public Health, Department of Epidemiology, Boston, MA, USA.
Christoph EngelUniversity of Leipzig, Institute for Medical Informatics, Statistics and Epidemiology, Leipzig, Germany.
Gareth D EvansUniversity of Manchester, Manchester Academic Health Science Centre, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester, UK.
Peter A FaschingUniversity Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Department of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, Erlangen, Germany.
James M FlanaganImperial College London, Division of Cancer and Ovarian Cancer Action Research Centre, Department of Surgery and Cancer, London, UK.
Renée T FortnerGerman Cancer Research Center (DKFZ), Division of Cancer Epidemiology, Heidelberg, Germany.
Eva MachackovaMasaryk Memorial Cancer Institute, Department of Cancer Epidemiology and Genetics, Brno, Czech Republic.ORCID 0000-0002-0246-1471
Eitan FriedmanChaim Sheba Medical Center, The Susanne Levy Gertner Oncogenetics Unit, Ramat Gan, Israel.
Patricia A GanzJonsson Comprehensive Cancer Centre, UCLA, Schools of Medicine and Public Health, Division of Cancer Prevention & Control Research, Los Angeles, CA, USA.
Judy GarberDana-Farber Cancer Institute, Cancer Risk and Prevention Clinic, Boston, MA, USA.
Francesca GensiniUniversity of Florence, Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Medical Genetics Unit, Florence, Italy.
Graham G GilesCancer Council Victoria, Cancer Epidemiology Division, Melbourne, VIC, Australia.ORCID 0000-0003-4946-9099
Gord GlendonLunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Fred A. Litwin Center for Cancer Genetics, Toronto, ON, Canada.
Andrew K GodwinUniversity of Kansas Medical Center, Department of Pathology and Laboratory Medicine, Kansas City, KS, USA.ORCID 0000-0002-3987-9580
Marc T GoodmanCedars-Sinai Medical Center, Samuel Oschin Comprehensive Cancer Institute, Cancer Prevention and Genetics Program, Los Angeles, CA, USA.
Mark H GreeneNational Cancer Institute, Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, Bethesda, MD, USA.ORCID 0000-0003-1852-9239
Jacek GronwaldPomeranian Medical University, Department of Genetics and Pathology, Szczecin, Poland.
OPAL Study Group
AOCS Group
Eric HahnenFaculty of Medicine and University Hospital Cologne, University of Cologne, Center for Familial Breast and Ovarian Cancer, Cologne, Germany.
Christopher A HaimanUniversity of Southern California, Department of Preventive Medicine, Keck School of Medicine, Los Angeles, CA, USA.
Niclas HåkanssonKarolinska Institutet, Institute of Environmental Medicine, Stockholm, Sweden.
Ute HamannGerman Cancer Research Center (DKFZ), Molecular Genetics of Breast Cancer, Heidelberg, Germany.
Thomas V O HansenRigshospitalet, Copenhagen University Hospital, Department of Clinical Genetics, Copenhagen, Denmark.
Holly R HarrisFred Hutchinson Cancer Research Center, Program in Epidemiology, Division of Public Health Sciences, Seattle, WA, USA.
Mikael HartmanNational University of Singapore and National University Health System, Saw Swee Hock School of Public Health, Singapore, Singapore.
Florian HeitzEv. Kliniken Essen-Mitte (KEM), Department of Gynecology and Gynecologic Oncology, Essen, Germany.ORCID 0000-0002-2412-0352
Michelle A T HildebrandtUniversity of Texas MD Anderson Cancer Center, Department of Epidemiology, Houston, TX, USA.
Estrid HøgdallDanish Cancer Society Research Center, Department of Virus, Lifestyle and Genes, Copenhagen, Denmark.
Claus K HøgdallUniversity of Copenhagen, Department of Gynaecology, Rigshospitalet, Copenhagen, Denmark.
John L HopperThe University of Melbourne, Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, Melbourne, VIC, Australia.
Ruea-Yea HuangRoswell Park Cancer Institute, Center For Immunotherapy, Buffalo, NY, USA.
Chad HuffUniversity of Texas MD Anderson Cancer Center, Department of Epidemiology, Houston, TX, USA.
Peter J HulickNorthShore University Health System, Center for Medical Genetics, Evanston, IL, USA.ORCID 0000-0001-8397-4078
David G HuntsmanBC Cancer, Vancouver General Hospital, and University of British Columbia, British Columbia's Ovarian Cancer Research (OVCARE) Program, Vancouver, BC, Canada.
Evgeny N ImyanitovN.N. Petrov Institute of Oncology, St. Petersburg, Russia.
KConFab Investigators
HEBON Investigators
Claudine IsaacsLombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA.
Anna JakubowskaPomeranian Medical University, Department of Genetics and Pathology, Szczecin, Poland.ORCID 0000-0002-5650-0501
Paul A JamesThe University of Melbourne, Sir Peter MacCallum Department of Oncology, Melbourne, VIC, Australia.ORCID 0000-0002-4361-4657
Ramunas JanaviciusVilnius University Hospital Santariskiu Clinics, Hematology, oncology and transfusion medicine center, Dept. of Molecular and Regenerative Medicine, Vilnius, Lithuania.
Allan JensenDanish Cancer Society Research Center, Department of Virus, Lifestyle and Genes, Copenhagen, Denmark.
Oskar Th JohannssonLandspitali University Hospital, Department of Oncology, Reykjavik, Iceland.
Esther M JohnStanford University School of Medicine, Department of Epidemiology & Population Health, Stanford, CA, USA.
Michael E JonesThe Institute of Cancer Research, Division of Genetics and Epidemiology, London, UK.
Daehee KangSeoul National University College of Medicine, Department of Preventive Medicine, Seoul, Korea.
Beth Y KarlanUniversity of California at Los Angeles, David Geffen School of Medicine, Department of Obstetrics and Gynecology, Los Angeles, CA, USA.
Anthony KarnezisUC Davis Medical Center, Department of Pathology and Laboratory Medicine, Sacramento, CA, USA.
Linda E KelemenMedical University of South Carolina, Hollings Cancer Center, Charleston, SC, USA.
Elza KhusnutdinovaUfa Federal Research Centre of the Russian Academy of Sciences, Institute of Biochemistry and Genetics, Ufa, Russia.
Lambertus A KiemeneyRadboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands.ORCID 0000-0002-2368-1326
Byoung-Gie KimSungkyunkwan University School of Medicine, Department of Obstetrics and Gynecology, Samsung Medical Center, Seoul, Korea.
Susanne K KjaerDanish Cancer Society Research Center, Department of Virus, Lifestyle and Genes, Copenhagen, Denmark.
Ian KomenakaCity of Hope Clinical Cancer Genetics Community Research Network, Duarte, CA, USA.
Jolanta KupryjanczykMaria Sklodowska-Curie National Research Institute of Oncology, Department of Pathology and Laboratory Diagnostics, Warsaw, Poland.
Allison W KurianStanford University School of Medicine, Department of Epidemiology & Population Health, Stanford, CA, USA.ORCID 0000-0002-6175-9470
Ava KwongCancer Genetics Centre, Hong Kong Hereditary Breast Cancer Family Registry, Happy Valley, Hong Kong.
Diether LambrechtsVIB Center for Cancer Biology, Leuven, Belgium.ORCID 0000-0002-3429-302X
Melissa C LarsonMayo Clinic, Department of Health Sciences Research, Division of Biomedical Statistics and Informatics, Rochester, MN, USA.
Conxi LazaroONCOBELL-IDIBELL-IGTP, Catalan Institute of Oncology, CIBERONC, Hereditary Cancer Program, Barcelona, Spain.ORCID 0000-0002-7198-5906
Nhu D LeBC Cancer, Cancer Control Research, Vancouver, BC, Canada.
Goska LeslieUniversity of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.ORCID 0000-0001-5756-6222
Jenny LesterUniversity of California at Los Angeles, David Geffen School of Medicine, Department of Obstetrics and Gynecology, Los Angeles, CA, USA.
Fabienne LesueurInstitut Curie, Paris, France.ORCID 0000-0001-7404-4549
Douglas A LevineMemorial Sloan Kettering Cancer Center, Gynecology Service, Department of Surgery, New York, NY, USA.
Lian LiTianjin Medical University Cancer Institute and Hospital, Department of Epidemiology, Tianjin, China.
Jingmei LiGenome Institute of Singapore, Human Genetics Division, Singapore, Singapore.
Jennifer T LoudNational Cancer Institute, Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, Bethesda, MD, USA.
Karen H LuUniversity of Texas MD Anderson Cancer Center, Department of Gynecologic Oncology and Clinical Cancer Genetics Program, Houston, TX, USA.
Jan LubińskiPomeranian Medical University, Department of Genetics and Pathology, Szczecin, Poland.
Phuong L MaiMagee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.ORCID 0000-0002-7486-4974
Siranoush ManoukianFondazione IRCCS Istituto Nazionale dei Tumori di Milano, Unit of Medical Genetics, Department of Medical Oncology and Hematology, Milan, Italy.
Jeffrey R MarksDuke University Hospital, Department of Surgery, Durham, NC, USA.
Rayna Kim MatsunoUniversity of Hawaii Cancer Center, Cancer Epidemiology Program, Honolulu, HI, USA.
Keitaro MatsuoAichi Cancer Center Research Institute, Division of Cancer Epidemiology and Prevention, Nagoya, Japan.ORCID 0000-0003-1761-6314
Taymaa MayPrincess Margaret Hospital, Division of Gynecologic Oncology, University Health Network, Toronto, ON, Canada.
Lesley McGuffogUniversity of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
John R McLaughlinSamuel Lunenfeld Research Institute, Public Health Ontario, Toronto, ON, Canada.
Iain A McNeishImperial College London, Division of Cancer and Ovarian Cancer Action Research Centre, Department Surgery & Cancer, London, UK.
Noura MebiroukInstitut Curie, Paris, France.
Usha MenonUniversity College London, MRC Clinical Trials Unit at UCL, Institute of Clinical Trials & Methodology, London, UK.ORCID 0000-0003-3708-1732
Austin MillerRoswell Park Cancer Institute, NRG Oncology, Statistics and Data Management Center, Buffalo, NY, USA.
Roger L MilneCancer Council Victoria, Cancer Epidemiology Division, Melbourne, VIC, Australia.ORCID 0000-0001-5764-7268
Albina MinlikeevaRoswell Park Cancer Institute, Division of Cancer Prevention and Control, Buffalo, NY, USA.
Francesmary ModugnoMagee-Womens Research Institute and Hillman Cancer Center, Womens Cancer Research Center, Pittsburgh, PA, USA.
Marco MontagnaVeneto Institute of Oncology IOV-IRCCS, Immunology and Molecular Oncology Unit, Padua, Italy.
Kirsten B MoysichRoswell Park Cancer Institute, Division of Cancer Prevention and Control, Buffalo, NY, USA.
Elizabeth MunroOregon Health & Science University, Department of Obstetrics and Gynecology, Portland, OR, USA.
Katherine L NathansonUniversity of Pennsylvania, Basser Center for BRCA, Abramson Cancer Center, Philadelphia, PA, USA.ORCID 0000-0002-6740-0901
Susan L NeuhausenBeckman Research Institute of City of Hope, Department of Population Sciences, Duarte, CA, USA.
Heli NevanlinnaUniversity of Helsinki, Department of Obstetrics and Gynecology, Helsinki University Hospital, Helsinki, Finland.ORCID 0000-0002-0916-2976
Joanne Ngeow Yuen YieNational Cancer Centre, Cancer Genetics Service, Singapore, Singapore.ORCID 0000-0003-1558-3627
Henriette Roed NielsenOdense University Hospital, Department of Clinical Genetics, Odence C, Denmark.
Finn C NielsenRigshospitalet, Copenhagen University Hospital, Department of Clinical Genetics, Copenhagen, Denmark.
Liene Nikitina-ZakeLatvian Biomedical Research and Study Centre, Riga, Latvia.
Kunle OdunsiRoswell Park Cancer Institute, Department of Gynecologic Oncology, Buffalo, NY, USA.
Kenneth OffitMemorial Sloan Kettering Cancer Center, Clinical Genetics Research Lab, Department of Cancer Biology and Genetics, New York, NY, USA.
Edith OlahNational Institute of Oncology, Department of Molecular Genetics, Budapest, Hungary.
Siel OlbrechtUniversity Hospitals Leuven, Division of Gynecologic Oncology, Department of Obstetrics and Gynaecology and Leuven Cancer Institute, Leuven, Belgium.
Olufunmilayo I OlopadeThe University of Chicago, Center for Clinical Cancer Genetics, Chicago, IL, USA.ORCID 0000-0002-9936-1599
Sara H OlsonMemorial Sloan-Kettering Cancer Center, Department of Epidemiology and Biostatistics, New York, NY, USA.
Håkan OlssonLund University, Department of Cancer Epidemiology, Clinical Sciences, Lund, Sweden.
Ana OsorioSpanish National Cancer Research Centre (CNIO), Human Cancer Genetics Programme, Madrid, Spain.
Laura PapiUniversity of Florence, Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Medical Genetics Unit, Florence, Italy.
Sue K ParkSeoul National University College of Medicine, Department of Preventive Medicine, Seoul, Korea.ORCID 0000-0001-5002-9707
Michael T ParsonsQIMR Berghofer Medical Research Institute, Department of Genetics and Computational Biology, Brisbane, QLD, Australia.ORCID 0000-0003-3242-8477
Harsha PathakUniversity of Kansas Medical Center, Department of Pathology and Laboratory Medicine, Kansas City, KS, USA.
Inge Sokilde PedersenAalborg University Hospital, Molecular Diagnostics, Aalborg, Denmark.ORCID 0000-0002-9902-8040
Ana PeixotoPortuguese Oncology Institute, Department of Genetics, Porto, Portugal.
Tanja PejovicOregon Health & Science University, Department of Obstetrics and Gynecology, Portland, OR, USA.
Pedro Perez-SeguraCIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Molecular Oncology Laboratory, Madrid, Spain.
Jennifer B PermuthMoffitt Cancer Center, Department of Cancer Epidemiology, Tampa, FL, USA.
Beth PeshkinLombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA.ORCID 0000-0002-2997-4701
Paolo PeterlongoIFOM-the FIRC Institute of Molecular Oncology, Genome Diagnostics Program, Milan, Italy.ORCID 0000-0001-6951-6855
Anna PiskorzCancer Research UK Cambridge Institute, University of Cambridge, Cambridge, UK.
Darya ProkofyevaBashkir State University, Department of Genetics and Fundamental Medicine, Ufa, Russia.
Paolo RadiceFondazione IRCCS Istituto Nazionale dei Tumori (INT), Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Milan, Italy.ORCID 0000-0001-6298-4111
Johanna RantalaKarolinska Institutet, Clinical Genetics, Stockholm, Sweden.
Marjorie J RigganDuke University Hospital, Department of Gynecologic Oncology, Durham, NC, USA.
Harvey A RischYale School of Public Health, Chronic Disease Epidemiology, New Haven, CT, USA.
Cristina Rodriguez-AntonaBiomedical Network on Rare Diseases (CIBERER), Madrid, Spain.
Eric RossFox Chase Cancer Center, Population Studies Facility, Philadelphia, PA, USA.ORCID 0000-0002-0890-2418
Mary Anne RossingFred Hutchinson Cancer Research Center, Program in Epidemiology, Division of Public Health Sciences, Seattle, WA, USA.
Ingo RunnebaumJena University Hospital-Friedrich Schiller University, Department of Gynaecology, Jena, Germany.
Dale P SandlerNational Institute of Environmental Health Sciences, NIH, Epidemiology Branch, Research Triangle Park, NC, USA.ORCID 0000-0002-6776-0018
Marta SantamariñaCentro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
Penny SoucyCentre Hospitalier Universitaire de Québec - Université Laval Research Center, Genomics Center, Québec City, QC, Canada.
Rita K SchmutzlerFaculty of Medicine and University Hospital Cologne, University of Cologne, Center for Familial Breast and Ovarian Cancer, Cologne, Germany.
V Wendy SetiawanUniversity of Southern California, Department of Preventive Medicine, Keck School of Medicine, Los Angeles, CA, USA.
Kang ShanHebei Medical University, Fourth Hospital, Department of Obstetrics and Gynaecology, Shijiazhuang, China.
Weiva SiehIcahn School of Medicine at Mount Sinai, Department of Population Health Science and Policy, New York, NY, USA.ORCID 0000-0003-0085-1190
Jacques SimardCentre Hospitalier Universitaire de Québec-Université Laval Research Center, Genomic Center, Québec City, QC, Canada.ORCID 0000-0001-6906-3390
Christian F SingerMedical University of Vienna, Dept of OB/GYN and Comprehensive Cancer Center, Vienna, Austria.
Anna P SokolenkoN.N. Petrov Institute of Oncology, St. Petersburg, Russia.
Honglin SongUniversity of Cambridge, Department of Public Health and Primary Care, Cambridge, UK.
Melissa C SoutheyCancer Council Victoria, Cancer Epidemiology Division, Melbourne, VIC, Australia.
Helen SteedRoyal Alexandra Hospital, Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, Edmonton, AB, Canada.
Dominique Stoppa-LyonnetINSERM U830, Department of Tumour Biology, Paris, France.ORCID 0000-0002-5438-8309
Rebecca SutphenUniversity of South Florida, Epidemiology Center, College of Medicine, Tampa, FL, USA.
Anthony J SwerdlowThe Institute of Cancer Research, Division of Genetics and Epidemiology, London, UK.
Yen Yen TanMedical University of Vienna, Dept of OB/GYN and Comprehensive Cancer Center, Vienna, Austria.
Manuel R TeixeiraPortuguese Oncology Institute, Department of Genetics, Porto, Portugal.ORCID 0000-0002-4896-5982
Soo Hwang TeoCancer Research Malaysia, Breast Cancer Research Programme, Subang Jaya, Selangor, Malaysia.ORCID 0000-0002-0444-590X
Kathryn L TerryHarvard T.H. Chan School of Public Health, Department of Epidemiology, Boston, MA, USA.
Mary Beth TerryColumbia University, Department of Epidemiology, Mailman School of Public Health, New York, NY, USA.
OCAC Consortium
CIMBA Consortium
Mads ThomassenOdense University Hospital, Department of Clinical Genetics, Odence C, Denmark.
Pamela J ThompsonCedars-Sinai Medical Center, Samuel Oschin Comprehensive Cancer Institute, Cancer Prevention and Genetics Program, Los Angeles, CA, USA.
Liv Cecilie Vestrheim ThomsenHaukeland University Hospital, Department of Obstetrics and Gynecology, Bergen, Norway.
Darcy L ThullMagee-Womens Hospital, University of Pittsburgh School of Medicine, Department of Medicine, Pittsburgh, PA, USA.
Marc TischkowitzMcGill University, Program in Cancer Genetics, Departments of Human Genetics and Oncology, Montréal, QC, Canada.ORCID 0000-0002-7880-0628
Linda TitusDartmouth College, Geisel School of Medicine, Hanover, NH, USA.
Amanda E TolandThe Ohio State University, Department of Cancer Biology and Genetics, Columbus, OH, USA.ORCID 0000-0002-0271-1792
Diana TorresGerman Cancer Research Center (DKFZ), Molecular Genetics of Breast Cancer, Heidelberg, Germany.
Britton TrabertNational Cancer Institute, Division of Cancer Epidemiology and Genetics, Bethesda, MD, USA.ORCID 0000-0002-1539-6090
Ruth TravisUniversity of Oxford, Cancer Epidemiology Unit, Oxford, UK.ORCID 0000-0002-9571-0763
Nadine TungBeth Israel Deaconess Medical Center, Department of Medical Oncology, Boston, MA, USA.
Shelley S TworogerHarvard T.H. Chan School of Public Health, Department of Epidemiology, Boston, MA, USA.ORCID 0000-0002-6986-7046
Ellen ValenHaukeland University Hospital, Department of Obstetrics and Gynecology, Bergen, Norway.
Anne M van AltenaRadboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands.
Annemieke H van der HoutUniversity Medical Center Groningen, University Groningen, Department of Genetics, Groningen, The Netherlands.
Els Van NieuwenhuysenUniversity Hospitals Leuven, Division of Gynecologic Oncology, Department of Obstetrics and Gynaecology and Leuven Cancer Institute, Leuven, Belgium.
Elizabeth J van RensburgUniversity of Pretoria, Department of Genetics, Arcadia, South Africa.ORCID 0000-0003-2077-230X
Ana VegaCentro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
Digna Velez EdwardsVanderbilt University Medical Center, Division of Quantitative Sciences, Department of Obstetrics and Gynecology, Department of Biomedical Sciences, Women's Health Research, Nashville, TN, USA.
Robert A VierkantMayo Clinic, Department of Health Sciences Research, Division of Biomedical Statistics and Informatics, Rochester, MN, USA.
Frances WangDuke Cancer Institute, Cancer Control and Population Sciences, Durham, NC, USA.
Barbara WappenschmidtFaculty of Medicine and University Hospital Cologne, University of Cologne, Center for Familial Breast and Ovarian Cancer, Cologne, Germany.
Penelope M WebbQIMR Berghofer Medical Research Institute, Population Health Department, Brisbane, QLD, Australia.ORCID 0000-0003-0733-5930
Clarice R WeinbergNational Institute of Environmental Health Sciences, NIH, Biostatistics and Computational Biology Branch, Research Triangle Park, NC, USA.
Jeffrey N WeitzelCity of Hope, Clinical Cancer Genomics, Duarte, CA, USA.
Nicolas WentzensenNational Cancer Institute, Division of Cancer Epidemiology and Genetics, Bethesda, MD, USA.
Emily WhiteUniversity of Washington, Department of Epidemiology, Seattle, WA, USA.
Alice S WhittemoreStanford University School of Medicine, Department of Epidemiology & Population Health, Stanford, CA, USA.
Stacey J WinhamMayo Clinic, Department of Health Sciences Research, Division of Biomedical Statistics and Informatics, Rochester, MN, USA.ORCID 0000-0002-8492-9102
Alicja WolkKarolinska Institutet, Institute of Environmental Medicine, Stockholm, Sweden.
Yin-Ling WooUniversity of Malaya, Department of Obstetrics and Gynaecology, University of Malaya Medical Centre, Kuala Lumpur, Malaysia.ORCID 0000-0003-1742-1066
Anna H WuUniversity of Southern California, Department of Preventive Medicine, Keck School of Medicine, Los Angeles, CA, USA.
Li YanHebei Medical University, Fourth Hospital, Department of Molecular Biology, Shijiazhuang, China.
Drakoulis YannoukakosNational Centre for Scientific Research 'Demokritos', Molecular Diagnostics Laboratory, INRASTES, Athens, Greece.ORCID 0000-0001-7509-3510
Katia M ZavagliaUniversity Hospital, SOD Genetica Molecolare, Pisa, Italy.
Wei ZhengVanderbilt University School of Medicine, Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Nashville, TN, USA.
Argyrios ZiogasUniversity of California Irvine, Department of Epidemiology, Genetic Epidemiology Research Institute, Irvine, CA, USA.ORCID 0000-0003-4529-3727
Kristin K ZornMagee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Zdenek KleiblInstitute of Biochemistry and Experimental Oncology, First Faculty od Medicine, Charles University, Prague, Czech Republic.ORCID 0000-0003-2050-9667
Douglas EastonUniversity of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.ORCID 0000-0003-2444-3247
Kate LawrensonCenter for Bioinformatics and Functional Genomics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Anna DeFazioThe University of Sydney, Centre for Cancer Research, The Westmead Institute for Medical Research, Sydney, NSW, Australia.ORCID 0000-0003-0057-4744
Thomas A SellersRoyal Pass Road, Tampa, FL, USA.
Susan J RamusUniversity of NSW Sydney, School of Women's and Children's Health, Faculty of Medicine, Sydney, NSW, Australia.ORCID 0000-0003-0005-7798
Celeste L PearceUniversity of Michigan School of Public Health, Department of Epidemiology, Ann Arbor, MI, USA.
Alvaro N MonteiroMoffitt Cancer Center, Department of Cancer Epidemiology, Tampa, FL, USA.ORCID 0000-0002-8448-4801
Julie CunninghamMayo Clinic, Department of Health Science Research, Division of Epidemiology, Rochester, MN, USA.ORCID 0000-0002-8159-3025
Ellen L GoodeMayo Clinic, Department of Health Science Research, Division of Epidemiology, Rochester, MN, USA.
Joellen M SchildkrautEmory University, Department of Epidemiology, Rollins School of Public Health, Atlanta, GA, USA.
Andrew BerchuckDuke University Hospital, Department of Gynecologic Oncology, Durham, NC, USA.
Georgia Chenevix-TrenchQIMR Berghofer Medical Research Institute, Department of Genetics and Computational Biology, Brisbane, QLD, Australia.
Simon A GaytherCenter for Bioinformatics and Functional Genomics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.ORCID 0000-0001-7937-5443
Antonis C AntoniouUniversity of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
Paul D P PharoahUniversity of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK. pp10001@medschl.cam.ac.uk.ORCID 0000-0001-8494-732X
University of Cambridge · GBRoswell Park Comprehensive Cancer Center · USCedars-Sinai Medical Center · USThe University of Melbourne · AUUniversity of Southern California · USMemorial Sloan Kettering Cancer Center · USInserm · FRUniversity of Copenhagen · DKLund University · SEUniversity of California, Los Angeles · USUniversity of Pittsburgh · USGerman Cancer Research Center · DERadboud University Nijmegen · NLVanderbilt University · USBrigham and Women's Hospital · USFox Chase Cancer Center · USMount Sinai Hospital · CAQIMR Berghofer Medical Research Institute · AUHuntsman Cancer Institute · USNorthShore University HealthSystem · US

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4M
Women's Cancer ProgramP30CA015083 · NCI · MAYO CLINIC ROCHESTER · PI AKHILESH PANDEY · 1985 to 2026
$151.3M
Environmental and Genetic Risk Factors For Breast Cancer: The Sister StudyZIAES044005 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI SANDLER, DALE P · 2009 to 2025
$22.7M
Using Integrated Omics to Identify Dysfunctional Genetic Mechanisms Influencing Schizophrenia and Sleep DisturbancesP20GM130423 · NIGMS · UNIVERSITY OF KANSAS MEDICAL CENTER · PI Kalyani Pyaram, Steven Allan Soper · 2019 to 2026
$21.5M
The Two Sister StudyZIAES102245 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI WEINBERG, CLARICE · 2009 to 2025
$8.6M
Relating Molecular Subgroups of Endometriosis-Associated Ovarian Cancers to Survival and RiskR01CA248288 · NCI · MAYO CLINIC ROCHESTER · PI Stacey J Winham · 2021 to 2026
$4.8M
Cancer Research UK 15601Cancer Research UK 20861Cancer Research UK 22905Cancer Research UK 23382Cancer Research UK 26886NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA015083NCI NIH HHS R01 CA248288NIGMS NIH HHS P20 GM130423
6 · The paper itself

Abstract

Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effects in models could improve predictive performance over standard approaches of PRS construction. Here, we implemented computationally efficient, penalized, logistic regression models (lasso, elastic net, stepwise) to individual level genotype data and a Bayesian framework with continuous shrinkage, "select and shrink for summary statistics" (S4), to summary level data for epithelial non-mucinous ovarian cancer risk prediction. We developed the models in a dataset consisting of 23,564 non-mucinous EOC cases and 40,138 controls participating in the Ovarian Cancer Association Consortium (OCAC) and validated the best models in three populations of different ancestries: prospective data from 198,101 women of European ancestries; 7,669 women of East Asian ancestries; 1,072 women of African ancestries, and in 18,915 BRCA1 and 12,337 BRCA2 pathogenic variant carriers of European ancestries. In the external validation data, the model with the strongest association for non-mucinous EOC risk derived from the OCAC model development data was the S4 model (27,240 SNPs) with odds ratios (OR) of 1.38 (95% CI: 1.28-1.48, AUC: 0.588) per unit standard deviation, in women of European ancestries; 1.14 (95% CI: 1.08-1.19, AUC: 0.538) in women of East Asian ancestries; 1.38 (95% CI: 1.21-1.58, AUC: 0.593) in women of African ancestries; hazard ratios of 1.36 (95% CI: 1.29-1.43, AUC: 0.592) in BRCA1 pathogenic variant carriers and 1.49 (95% CI: 1.35-1.64, AUC: 0.624) in BRCA2 pathogenic variant carriers. Incorporation of the S4 PRS in risk prediction models for ovarian cancer may have clinical utility in ovarian cancer prevention programs.

Indexed as

Ovarian NeoplasmsBayes TheoremCarcinoma, Ovarian EpithelialFemaleGenetic Predisposition to DiseaseHumansPolymorphism, Single NucleotideProspective StudiesRisk Factors

Identifiers

PMID35027648
PMCPMC8904525
OpenAlexW4205756350

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Registered trials

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.