Evidence map›Paper›PMID 33597508›Full record

ArticleNature communications2021

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.

Juliette Coignard, Michael Lush, Jonathan Beesley, Tracy A O'Mara, Joe Dennis, Jonathan P Tyrer, Daniel R Barnes, Lesley McGuffog, Goska Leslie, Manjeet K Bolla and 214 more

Erratum issuedAbstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 32 papers.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed
–field-weighted citation impact
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

32 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Genetic regulation of the estrogen receptor and inherited predisposition to breast cancer.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  8. Article
  9. The role and mechanism of human papillomavirus in urinary system tumors.The Journal of international medical research · 2025
    Review
  10. Review
  11. Review
  12. Cancers · 2025
    Article
  13. Review
  14. Article
  15. Biallelic GermlineInternational journal of molecular sciences · 2024
    Article
  16. Article
  17. Article
  18. Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.Genetics in medicine : official journal of the American College of Medical Genetics · 2024
    Observational
  19. Review
  20. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

224 authors.

Juliette CoignardGenetic Epidemiology of Cancer team, Inserm, U900, Paris, France.
Michael LushCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Jonathan BeesleyDepartment of Genetics and Computational Biology QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Tracy A O'MaraDepartment of Genetics and Computational Biology QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID http://orcid.org/0000-0002-5436-3232
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0003-4591-1214
Jonathan P TyrerCentre for Cancer Genetic Epidemiology, Department of Oncology University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0003-3724-4757
Daniel R BarnesCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0002-3781-7570
Lesley McGuffogCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Goska LeslieCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0001-5756-6222
Manjeet K BollaCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Muriel A AdankFamily Cancer Clinic, The Netherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands.
Simona AgataImmunology and Molecular Oncology, Unit Veneto Institute of Oncology IOV - IRCCS, Padua, Italy.
Thomas AhearnDivision of Cancer Epidemiology and Genetics National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.ORCID http://orcid.org/0000-0003-0771-7752
Kristiina AittomäkiDepartment of Clinical Genetics, Helsinki University Hospital University of Helsinki, Helsinki, Finland.
Irene L AndrulisFred A. Litwin Center for Cancer Genetics Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada.ORCID http://orcid.org/0000-0002-4226-6435
Hoda Anton-CulverDepartment of Epidemiology, Genetic Epidemiology Research Institute University of California Irvine, Irvine, CA, USA.
Volker ArndtDivision of Clinical Epidemiology and Aging Research German Cancer Research Center (DKFZ), Heidelberg, Germany.ORCID http://orcid.org/0000-0001-9320-8684
Norbert ArnoldDepartment of Gynaecology and Obstetrics University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany.
Kristan J AronsonDepartment of Public Health Sciences, and Cancer Research Institute Queen's University, Kingston, ON, Canada.
Banu K ArunDepartment of Breast Medical Oncology University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Annelie AugustinssonDepartment of Cancer Epidemiology, Clinical Sciences Lund University, Lund, 22242, Sweden.
Jacopo AzzolliniUnit of Medical Genetics, Department of Medical Oncology and Hematology Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy.ORCID http://orcid.org/0000-0002-9364-9778
Daniel BarrowdaleCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0003-1661-3939
Caroline BaynesCentre for Cancer Genetic Epidemiology, Department of Oncology University of Cambridge, Cambridge, UK.
Heiko BecherInstitute for Medical Biometrics and Epidemiology University Medical Center Hamburg-Eppendorf, Hamburg, Germany.ORCID http://orcid.org/0000-0002-8808-6667
Marina BermishevaInstitute of Biochemistry and Genetics Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russia.
Leslie BernsteinDepartment of Population Sciences Beckman Research Institute of City of Hope, Duarte, CA, USA.ORCID http://orcid.org/0000-0002-7692-6518
Katarzyna BiałkowskaDepartment of Genetics and Pathology Pomeranian Medical University Szczecin, Szczecin, Poland.
Carl BlomqvistDepartment of Oncology, Helsinki University Hospital University of Helsinki, Helsinki, Finland.
Stig E BojesenCopenhagen General Population Study, Herlev and Gentofte Hospital Copenhagen University Hospital, Herlev, Denmark.ORCID http://orcid.org/0000-0002-4061-4133
Bernardo BonanniDivision of Cancer Prevention and Genetics IEO, European Institute of Oncology IRCCS, Milan, Italy.ORCID http://orcid.org/0000-0003-3589-2128
Ake BorgDepartment of Oncology Lund University and Skåne University Hospital, Lund, Sweden.
Hiltrud BrauchDr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.ORCID http://orcid.org/0000-0001-7531-2736
Hermann BrennerDivision of Clinical Epidemiology and Aging Research German Cancer Research Center (DKFZ), Heidelberg, Germany.
Barbara BurwinkelMolecular Epidemiology Group, C080 German Cancer Research Center (DKFZ), Heidelberg, Germany.
Saundra S BuysDepartment of Medicine Huntsman Cancer Institute, Salt Lake City, UT, USA.
Trinidad CaldésMolecular Oncology Laboratory CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.ORCID http://orcid.org/0000-0002-1038-5392
Maria A CaligoSOD Genetica Molecolare University Hospital, Pisa, Italy.
Daniele CampaDepartment of Biology University of Pisa, Pisa, Italy.
Brian D CarterBehavioral and Epidemiology Research Group American Cancer Society Atlanta, Atlanta, GA, USA.
Jose E CastelaoOncology and Genetics Unit Instituto de Investigacion Sanitaria Galicia Sur (IISGS), Xerencia de Xestion Integrada de Vigo-SERGAS, Vigo, Spain.
Jenny Chang-ClaudeDivision of Cancer Epidemiology German Cancer Research Center (DKFZ), Heidelberg, Germany.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-2324-3393
Wendy K ChungDepartments of Pediatrics and Medicine, Columbia University, New York, NY, USA.ORCID http://orcid.org/0000-0003-3438-5685
Kathleen B M ClaesCentre for Medical Genetics Ghent University, Gent, Belgium.ORCID http://orcid.org/0000-0003-0841-7372
Christine L ClarkeWestmead Institute for Medical Research University of Sydney, Sydney, NSW, Australia.
GEMO Study Collaborators
EMBRACE Collaborators
J Margriet ColléeDepartment of Clinical Genetics Erasmus University Medical Center, Rotterdam, The Netherlands.ORCID http://orcid.org/0000-0002-9272-9346
Don M ConroyCentre for Cancer Genetic Epidemiology, Department of Oncology University of Cambridge, Cambridge, UK.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Mary B DalyDepartment of Clinical Genetics Fox Chase Cancer Center Philadelphia, Philadelphia, PA, USA.
Peter DevileeDepartment of Pathology Leiden University Medical Center, Leiden, The Netherlands.ORCID http://orcid.org/0000-0002-8023-2009
Orland DiezOncogenetics Group Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.
Yuan Chun DingDepartment of Population Sciences Beckman Research Institute of City of Hope, Duarte, CA, USA.
Susan M DomchekBasser Center for BRCA, Abramson Cancer Center University of Pennsylvania, Philadelphia, PA, USA.
Thilo DörkGynaecology Research Unit, Hannover Medical School, Hannover, Germany.ORCID http://orcid.org/0000-0002-9458-0282
Isabel Dos-Santos-SilvaDepartment of Non-Communicable Disease Epidemiology London School of Hygiene and Tropical Medicine, London, UK.
Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Oncology University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0001-6651-7166
Miriam DwekSchool of Life Sciences University of Westminster, London, UK.ORCID http://orcid.org/0000-0001-7184-2932
Diana M EcclesFaculty of Medicine University of Southampton, Southampton, UK.
A Heather EliassenChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-3961-6609
Christoph EngelInstitute for Medical Informatics, Statistics and Epidemiology University of Leipzig, Leipzig, Germany.
Mikael ErikssonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
D Gareth EvansGenomic Medicine, Division of Evolution and Genomic Sciences The University of Manchester, Manchester Academic Health Science Centre, Manchester Universities Foundation Trust, St Mary's Hospital, Manchester, UK.
Peter A FaschingDavid Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology University of California at Los Angeles, Los Angeles, CA, USA.
Henrik FlygerDepartment of Breast Surgery, Herlev and Gentofte Hospital Copenhagen University Hospital, Herlev, Denmark.
Florentia FostiraMolecular Diagnostics Laboratory, INRASTES National Centre for Scientific Research íDemokritosí, Athens, Greece.
Eitan FriedmanThe Susanne Levy Gertner Oncogenetics Unit Chaim Sheba Medical Center, Ramat Gan, Israel.
Lin FritschiSchool of Public Health Curtin University, Perth, Western Australia, Australia.ORCID http://orcid.org/0000-0002-7692-3560
Debra FrostCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Manuela Gago-DominguezGenomic Medicine Group, Galician Foundation of Genomic Medicine Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, Spain.
Susan M GapsturBehavioral and Epidemiology Research Group American Cancer Society Atlanta, Atlanta, GA, USA.
Judy GarberDivision of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA, USA.
Vanesa Garcia-BarberanMedical Oncology Department, Hospital Clínico San Carlos Instituto de Investigación Sanitaria San Carlos (IdISSC), Centro Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
Montserrat García-ClosasDivision of Cancer Epidemiology and Genetics National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.ORCID http://orcid.org/0000-0003-1033-2650
José A García-SáenzMedical Oncology Department, Hospital Clínico San Carlos Instituto de Investigación Sanitaria San Carlos (IdISSC), Centro Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.ORCID http://orcid.org/0000-0001-6880-0301
Mia M GaudetBehavioral and Epidemiology Research Group American Cancer Society Atlanta, Atlanta, GA, USA.
Simon A GaytherCenter for Bioinformatics and Functional Genomics and the Cedars Sinai Genomics Core Cedars-Sinai Medical Center, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0001-7937-5443
Andrea GehrigDepartment of Human Genetics University Würzburg, Würzburg, Germany.
Vassilios GeorgouliasDepartment of Medical Oncology University Hospital of Heraklion, Heraklion, Greece.
Graham G GilesCancer Epidemiology Division Cancer Council Victoria, Melbourne, VIC, Australia.ORCID http://orcid.org/0000-0003-4946-9099
Andrew K GodwinDepartment of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, KS, USA.
Mark S GoldbergDepartment of Medicine, McGill University, Montréal, QC, Canada.
David E GoldgarHuntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT, USA.
Anna González-NeiraHuman Cancer Genetics Programme Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Mark H GreeneClinical Genetics Branch, Division of Cancer Epidemiology and Genetics National Cancer Institute, Bethesda, MD, USA.ORCID http://orcid.org/0000-0003-1852-9239
Pascal GuénelCancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP) INSERM, University Paris-Sud, University Paris-Saclay, Villejuif, France.ORCID http://orcid.org/0000-0002-8359-518X
Lothar HaeberleDepartment of Gynaecology and Obstetrics, University Hospital Erlangen Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
Eric HahnenCenter for Hereditary Breast and Ovarian Cancer Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine University of Southern California, Los Angeles, CA, USA.
Niclas HåkanssonDepartment of Oncology, Södersjukhuset, Stockholm, Sweden.ORCID http://orcid.org/0000-0001-7673-5554
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Ute HamannMolecular Genetics of Breast Cancer German Cancer Research Center (DKFZ), Heidelberg, Germany.
Patricia A HarringtonCentre for Cancer Genetic Epidemiology, Department of Oncology University of Cambridge, Cambridge, UK.
Steven N HartDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0001-7714-2734
Wei HeDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.ORCID http://orcid.org/0000-0003-0161-3274
Frans B L HogervorstFamily Cancer Clinic, The Netherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands.
Antoinette HollestelleDepartment of Medical Oncology, Family Cancer Clinic Erasmus MC Cancer Institute, Rotterdam, The Netherlands.ORCID http://orcid.org/0000-0003-1166-1966
John L HopperCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia.
Darling J HorcasitasNew Mexico Oncology Hematology Consultants, University of New Mexico, Albuquerque, NM, USA.
Peter J HulickCenter for Medical Genetics NorthShore University HealthSystem, Evanston, IL, USA.ORCID http://orcid.org/0000-0001-8397-4078
David J HunterDepartment of Epidemiology Harvard TH Chan School of Public Health, Boston, MA, USA.
Evgeny N ImyanitovNN Petrov Institute of Oncology, St. Petersburg, Russia.
KConFab Investigators
HEBON Investigators
ABCTB Investigators
Agnes JagerDepartment of Medical Oncology, Family Cancer Clinic Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
Anna JakubowskaDepartment of Genetics and Pathology Pomeranian Medical University Szczecin, Szczecin, Poland.ORCID http://orcid.org/0000-0002-5650-0501
Paul A JamesSir Peter MacCallum Department of Oncology The University of Melbourne, Melbourne, VIC, Australia.ORCID http://orcid.org/0000-0002-4361-4657
Uffe Birk JensenDepartment of Clinical Genetics Aarhus, University Hospital, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-6205-6355
Esther M JohnDepartment of Medicine, Division of Oncology, Stanford University School of Medicine, Stanford, CA, USA.
Michael E JonesDepartment of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, USA.ORCID http://orcid.org/0000-0001-7479-3451
Rudolf KaaksDivision of Cancer Epidemiology German Cancer Research Center (DKFZ), Heidelberg, Germany.
Pooja Middha KapoorDivision of Cancer Epidemiology German Cancer Research Center (DKFZ), Heidelberg, Germany.ORCID http://orcid.org/0000-0001-5503-8215
Beth Y KarlanFaculty of Medicine University of Heidelberg, Heidelberg, Germany.
Renske KeemanWomenís Cancer Program at the Samuel Oschin Comprehensive Cancer Institute Cedars-Sinai Medical Center, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0002-5452-9933
Elza KhusnutdinovaInstitute of Biochemistry and Genetics Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russia.
Johanna I KiiskiDepartment of Genetics and Fundamental Medicine Bashkir State Medical University, Ufa, Russia.
Yon-Dschun KoDepartment of Obstetrics and Gynecology, Helsinki University Hospital University of Helsinki, Helsinki, Finland.
Veli-Matti KosmaDepartment of Internal Medicine, Evangelische Kliniken Bonn gGmbH Johanniter Krankenhaus, Bonn, Germany.
Peter KraftDepartment of Epidemiology Harvard TH Chan School of Public Health, Boston, MA, USA.ORCID http://orcid.org/0000-0002-4472-8103
Allison W KurianDepartment of Medicine, Division of Oncology, Stanford University School of Medicine, Stanford, CA, USA.ORCID http://orcid.org/0000-0002-6175-9470
Yael LaitmanThe Susanne Levy Gertner Oncogenetics Unit Chaim Sheba Medical Center, Ramat Gan, Israel.
Diether LambrechtsVIB Center for Cancer Biology, Leuven, Belgium.ORCID http://orcid.org/0000-0002-3429-302X
Loic Le MarchandEpidemiology Program University of Hawaii Cancer Center, Honolulu, HI, USA.
Jenny LesterFaculty of Medicine University of Heidelberg, Heidelberg, Germany.
Fabienne LesueurGenetic Epidemiology of Cancer team, Inserm, U900, Paris, France.ORCID http://orcid.org/0000-0001-7404-4549
Tricia LindstromDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Adria Lopez-FernándezHigh Risk and Cancer Prevention Group Vall d'Hebron Institute of Oncology, Barcelona, Spain.
Jennifer T LoudClinical Genetics Branch, Division of Cancer Epidemiology and Genetics National Cancer Institute, Bethesda, MD, USA.
Craig LuccariniCentre for Cancer Genetic Epidemiology, Department of Oncology University of Cambridge, Cambridge, UK.
Arto MannermaaDepartment of Internal Medicine, Evangelische Kliniken Bonn gGmbH Johanniter Krankenhaus, Bonn, Germany.
Siranoush ManoukianUnit of Medical Genetics, Department of Medical Oncology and Hematology Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy.
Sara MargolinDepartment of Oncology, Södersjukhuset, Stockholm, Sweden.
John W M MartensDepartment of Medical Oncology, Family Cancer Clinic Erasmus MC Cancer Institute, Rotterdam, The Netherlands.ORCID http://orcid.org/0000-0002-3428-3366
Noura MebiroukGenetic Epidemiology of Cancer team, Inserm, U900, Paris, France.
Alfons MeindlDepartment of Gynecology and Obstetrics University of Munich, Campus Grosshadern, Munich, Germany.
Austin MillerNRG Oncology, Statistics and Data Management Center Roswell Park Cancer Institute, Buffalo, NY, USA.ORCID http://orcid.org/0000-0001-9739-8462
Roger L MilneCancer Epidemiology Division Cancer Council Victoria, Melbourne, VIC, Australia.ORCID http://orcid.org/0000-0001-5764-7268
Marco MontagnaImmunology and Molecular Oncology, Unit Veneto Institute of Oncology IOV - IRCCS, Padua, Italy.
Katherine L NathansonBasser Center for BRCA, Abramson Cancer Center University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-6740-0901
Susan L NeuhausenDepartment of Population Sciences Beckman Research Institute of City of Hope, Duarte, CA, USA.
Heli NevanlinnaDepartment of Genetics and Fundamental Medicine Bashkir State Medical University, Ufa, Russia.ORCID http://orcid.org/0000-0002-0916-2976
Finn C NielsenCenter for Genomic Medicine Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Katie M O'BrienEpidemiology Branch National Institute of Environmental Health Sciences, NIH Research Triangle Park, Durham, NC, USA.
Olufunmilayo I OlopadeCenter for Clinical Cancer Genetics The University of Chicago, Chicago, IL, USA.ORCID http://orcid.org/0000-0002-9936-1599
Janet E OlsonDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0003-4944-7789
Håkan OlssonDepartment of Cancer Epidemiology, Clinical Sciences Lund University, Lund, 22242, Sweden.
Ana OsorioHuman Cancer Genetics Programme Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Laura OttiniDepartment of Molecular Medicine University La Sapienza, Rome, Italy.ORCID http://orcid.org/0000-0001-8030-0449
Tjoung-Won Park-SimonGynaecology Research Unit, Hannover Medical School, Hannover, Germany.
Michael T ParsonsDepartment of Genetics and Computational Biology QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID http://orcid.org/0000-0003-3242-8477
Inge Sokilde PedersenMolecular Diagnostics Aalborg University Hospital, Aalborg, Denmark.ORCID http://orcid.org/0000-0002-9902-8040
Beth PeshkinLombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA.ORCID http://orcid.org/0000-0002-2997-4701
Paolo PeterlongoGenome Diagnostics Program IFOM - the FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy.ORCID http://orcid.org/0000-0001-6951-6855
Julian PetoDepartment of Non-Communicable Disease Epidemiology London School of Hygiene and Tropical Medicine, London, UK.ORCID http://orcid.org/0000-0002-1685-8912
Paul D P PharoahCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0001-8494-732X
Kelly-Anne PhillipsDepartment of Genetics and Computational Biology QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Eric C PolleyDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Bruce PoppeCentre for Medical Genetics Ghent University, Gent, Belgium.
Nadege PresneauSchool of Life Sciences University of Westminster, London, UK.
Miquel Angel PujanaTranslational Research Laboratory IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
Kevin PunieLeuven Multidisciplinary Breast Center, Department of Oncology Leuven Cancer Institute, University Hospitals Leuven, Leuven, Belgium.ORCID http://orcid.org/0000-0002-1162-7963
Paolo RadiceUnit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy.ORCID http://orcid.org/0000-0001-6298-4111
Johanna RantalaClinical Genetics Karolinska Institutet, Stockholm, Sweden.
Muhammad U RashidMolecular Genetics of Breast Cancer German Cancer Research Center (DKFZ), Heidelberg, Germany.
Gad RennertClalit National Cancer Control Center Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel.ORCID http://orcid.org/0000-0002-8512-068X
Hedy S RennertClalit National Cancer Control Center Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel.
Mark RobsonClinical Genetics Service, Department of Medicine Memorial Sloan-Kettering Cancer Center, New York, NY, USA.ORCID http://orcid.org/0000-0002-3109-1692
Atocha RomeroMedical Oncology Department Hospital Universitario Puerta de Hierro, Madrid, Spain.ORCID http://orcid.org/0000-0002-1634-7397
Maria RossingCenter for Genomic Medicine Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Emmanouil SaloustrosDepartment of Oncology University Hospital of Larissa, Larissa, Greece.ORCID http://orcid.org/0000-0002-0485-0120
Dale P SandlerEpidemiology Branch National Institute of Environmental Health Sciences, NIH Research Triangle Park, Durham, NC, USA.ORCID http://orcid.org/0000-0002-6776-0018
Regina SantellaDepartment of Epidemiology, Mailman School of Public Health Columbia University, New York, NY, USA.
Maren T ScheunerCancer Genetics and Prevention Program University of California San Francisco, San Francisco, CA, USA.
Marjanka K SchmidtWomenís Cancer Program at the Samuel Oschin Comprehensive Cancer Institute Cedars-Sinai Medical Center, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0002-2228-429X
Gunnar SchmidtInstitute of Human Genetics Hannover Medical School, Hannover, Germany.
Christopher ScottDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0003-1340-0647
Priyanka SharmaDepartment of Internal Medicine, Division of Medical Oncology University of Kansas Medical Center, Westwood, KS, USA.
Penny SoucyGenomics Center, Centre Hospitalier Universitaire de Québec - Université Laval Research Center, Québec City, QC, Canada.
Melissa C SoutheyPrecision Medicine, School of Clinical Sciences at Monash Health Monash University, Clayton, VIC, Australia.
John J SpinelliPopulation Oncology BC Cancer, Vancouver, BC, Canada.
Zoe SteinsnyderClinical Genetics Research Lab, Department of Cancer Biology and Genetics Memorial Sloan-Kettering Cancer Center, New York, NY, USA.
Jennifer StoneCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia.ORCID http://orcid.org/0000-0001-5077-0124
Dominique Stoppa-LyonnetService de Génétique Institut Curie, Paris, France.
Anthony SwerdlowDepartment of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, USA.
Rulla M TamimiChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
William J TapperFaculty of Medicine University of Southampton, Southampton, UK.
Jack A TaylorEpidemiology Branch National Institute of Environmental Health Sciences, NIH Research Triangle Park, Durham, NC, USA.
Mary Beth TerryDepartment of Epidemiology, Mailman School of Public Health Columbia University, New York, NY, USA.
Alex TeuléHereditary Cancer Program ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
Darcy L ThullDepartment of Medicine Magee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Marc TischkowitzProgram in Cancer Genetics, Departments of Human Genetics and Oncology McGill University, Montréal, QC, Canada.
Amanda E TolandDepartment of Cancer Biology and Genetics The Ohio State University, Columbus, OH, USA.ORCID http://orcid.org/0000-0002-0271-1792
Diana TorresMolecular Genetics of Breast Cancer German Cancer Research Center (DKFZ), Heidelberg, Germany.
Alison H TrainerParkville Familial Cancer Centre Peter MacCallum Cancer Center, Melbourne, VIC, Australia.
Thérèse TruongCancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP) INSERM, University Paris-Sud, University Paris-Saclay, Villejuif, France.ORCID http://orcid.org/0000-0002-2943-6786
Nadine TungDepartment of Medical Oncology Beth Israel Deaconess Medical Center, Boston, MA, USA.
Celine M VachonDepartment of Health Science Research, Division of Epidemiology Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0002-1962-9322
Ana VegaFundación Pública Galega Medicina Xenómica-SERGAS, Instituto de Investigación Sanitaria Santiago de Compostela (IDIS); CIBERER, Santiago de Compostela, Spain.ORCID http://orcid.org/0000-0002-7416-5137
Joseph VijaiClinical Genetics Service, Department of Medicine Memorial Sloan-Kettering Cancer Center, New York, NY, USA.ORCID http://orcid.org/0000-0002-7933-151X
Qin WangCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Barbara WappenschmidtCenter for Hereditary Breast and Ovarian Cancer Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Clarice R WeinbergBiostatistics and Computational Biology Branch National Institute of Environmental Health Sciences, NIH Research Triangle Park, Triangle Park, NC, USA.
Jeffrey N WeitzelClinical Cancer Genomics City of Hope, Duarte, CA, USA.ORCID http://orcid.org/0000-0001-6714-092X
Camilla WendtDepartment of Clinical Science and Education, Södersjukhuset Karolinska Institutet, Stockholm, Sweden.
Alicja WolkInstitute of Environmental Medicine Karolinska Institutet, Stockholm, Sweden.ORCID http://orcid.org/0000-0001-7387-6845
Siddhartha YadavDepartment of Oncology Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0003-4630-9903
Xiaohong R YangDivision of Cancer Epidemiology and Genetics National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
Drakoulis YannoukakosMolecular Diagnostics Laboratory, INRASTES National Centre for Scientific Research íDemokritosí, Athens, Greece.ORCID http://orcid.org/0000-0001-7509-3510
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center Vanderbilt University School of Medicine, Nashville, TN, USA.
Argyrios ZiogasDepartment of Epidemiology, Genetic Epidemiology Research Institute University of California Irvine, Irvine, CA, USA.ORCID http://orcid.org/0000-0003-4529-3727
Kristin K ZornMagee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.ORCID http://orcid.org/0000-0003-2143-8979
Sue K ParkDepartment of Preventive Medicine Seoul National University College of Medicine, Seoul, Korea.ORCID http://orcid.org/0000-0001-5002-9707
Mads ThomassenDepartment of Clinical Genetics Odense University Hospital, Odence C, Denmark.
Kenneth OffitClinical Genetics Service, Department of Medicine Memorial Sloan-Kettering Cancer Center, New York, NY, USA.
Rita K SchmutzlerCenter for Hereditary Breast and Ovarian Cancer Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Fergus J CouchDepartment of Laboratory Medicine and Pathology Mayo Clinic, Rochester, MN, USA.
Jacques SimardDepartment of Epidemiology, Genetic Epidemiology Research Institute University of California Irvine, Irvine, CA, USA.ORCID http://orcid.org/0000-0001-6906-3390
Georgia Chenevix-TrenchDepartment of Genetics and Computational Biology QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0003-2444-3247
Nadine AndrieuGenetic Epidemiology of Cancer team, Inserm, U900, Paris, France. nadine.andrieu@curie.fr.
Antonis C AntoniouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. aca20@medschl.cam.ac.uk.

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4M
NRG Oncology Network Group Operations Center - GY9 BIQSFP Reports/BudgetsU10CA180868 · NCI · NRG ONCOLOGY FOUNDATION, INC. · PI NORMAN WOLMARK · 2014 to 2026
$206.8M
Tumor Immunology and Microenvironment Research ProgramP30CA068485 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI STACIE B DUSETZINA · 1995 to 2026
$172.8M
Statistics CoreU10CA180822 · NCI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI James J. Dignam, GREG YOTHERS · 2014 to 2026
$146.4M
NRG Oncology NCORP Research Base-BIQSFPUG1CA189867 · NCI · NRG ONCOLOGY FOUNDATION, INC. · PI Deborah Watkins Bruner, Lisa A. Kachnic · 2014 to 2026
$140.5M
GYNECOLOGIC ONCOLOGY GROUP HEADQUARTERSU10CA027469 · NCI · GYNECOLOGIC ONCOLOGY GROUP · PI DISAIA, PHILIP J. · 1985 to 2013
$132.6M
UCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1M
Clinical Genetic Studies of Familial and Hereditary Cancer SyndromesZIACP010144 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI SAVAGE, SHARON A. · 2009 to 2025
$111.8M
Statistical MethodsP01CA087969 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI ROSNER, BERNARD A · 2000 to 2019
$77.8M
Tissue Culture Shared ResourceP30CA051008 · NCI · GEORGETOWN UNIVERSITY · PI Louis M Weiner · 1990 to 2026
$71.5M
GYNECOLOGIC ONCOLOGY GROUP STATISTICAL OFFICEU10CA037517 · NCI · ROSWELL PARK CANCER INSTITUTE CORP · PI BLESSING, JOHN A · 1985 to 2013
$67.4M
Tissue Procurement & PathologyP50CA058223 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI CHARLES M PEROU · 1992 to 2026
$59.3M
Cancer Research UK 10118Cancer Research UK 11174Cancer Research UK 14136Cancer Research UK 16563Cancer Research UK 20861Cancer Research UK 23382Cancer Research UK 26886Cancer Research UK C12292/A11174Cancer Research UK C1275/A11699Cancer Research UK C1275/A15956Cancer Research UK C1275/A19187Cancer Research UK C1275/C22524Cancer Research UK C1281/A12014Cancer Research UK C1287/A10118Cancer Research UK C1287/A10710Cancer Research UK C1287/A11990Cancer Research UK C1287/A16563Cancer Research UK C490/A10124Cancer Research UK C490/A16561Cancer Research UK C5047/A10692Cancer Research UK C5047/A15007Cancer Research UK C5047/A8384Cancer Research UK C5047/A8385Cancer Research UK C570/A16491Cancer Research UK C8197/A16565Cancer Research UK C8221/A19170Department of Health IS-BRC-1215-20007Intramural NIH HHS Z01 ES044005Intramural NIH HHS Z01 ES049033Medical Research Council 1000143Medical Research Council G0401527Medical Research Council G1000143Medical Research Council MR/M012190/1Medical Research Council MR/N003284/1NCATS NIH HHS UL1 TR000124NCATS NIH HHS UL1 TR001881NCATS NIH HHS UL1 TR002538NCI NIH HHS K07 CA092044NCI NIH HHS N02 CP011019NCI NIH HHS N02 CP065504NCI NIH HHS P01 CA087969NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA051008NCI NIH HHS P30 CA062203NCI NIH HHS P30 CA068485NCI NIH HHS P30 CA168524NCI NIH HHS P50 CA058223NCI NIH HHS P50 CA116201NCI NIH HHS P50 CA125183NCI NIH HHS R01 CA050385NCI NIH HHS R01 CA054281NCI NIH HHS R01 CA058860NCI NIH HHS R01 CA063464NCI NIH HHS R01 CA077398NCI NIH HHS R01 CA097396NCI NIH HHS R01 CA100374NCI NIH HHS R01 CA116167NCI NIH HHS R01 CA128931NCI NIH HHS R01 CA128978NCI NIH HHS R01 CA132839NCI NIH HHS R01 CA140286NCI NIH HHS R01 CA142996NCI NIH HHS R01 CA176785NCI NIH HHS R01 CA177150NCI NIH HHS R01 CA192393NCI NIH HHS R01 CA214545NCI NIH HHS R25 CA112486NCI NIH HHS R37 CA054281NCI NIH HHS RC4 CA153828NCI NIH HHS U01 CA058860NCI NIH HHS U01 CA063464NCI NIH HHS U01 CA098758NCI NIH HHS U01 CA116167NCI NIH HHS U01 CA161032NCI NIH HHS U01 CA164973NCI NIH HHS U01 CA176726NCI NIH HHS U01 CA179715NCI NIH HHS U01 CA199277NCI NIH HHS U10 CA027469NCI NIH HHS U10 CA037517NCI NIH HHS U10 CA180822NCI NIH HHS U10 CA180868NCI NIH HHS U19 CA148065NCI NIH HHS U19 CA148112NCI NIH HHS U19 CA148537NCI NIH HHS U54 CA156733NCI NIH HHS UG1 CA189867NCI NIH HHS UM1 CA164917NCI NIH HHS UM1 CA164920NCI NIH HHS UM1 CA164973NCI NIH HHS UM1 CA176726NCI NIH HHS UM1 CA186107NIEHS NIH HHS P30 ES009089NIGMS NIH HHS P20 GM130423
6 · The paper itself

Abstract

Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10

Indexed as

Polymorphism, Single NucleotideAdultAllelesBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansLinkage DisequilibriumMiddle AgedMutationQuantitative Trait LociRisk FactorsBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, human

Identifiers

PMID33597508
PMCPMC7890067

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