This work was supported by Cancer Research UK grant: PPRPGM-Nov20\100002 and PRCPJT-May21\100006; by core funding from the NIHR Cambridge Biomedical Research Centre (NIHR203312) [*]. *The views expressed are those of the author(s) and not necessarily those of the NIHR or the Department of Health and Social Care. The Ovarian Cancer Association Consortium is supported by a grant from the Ovarian Cancer Research Fund thanks to donations by the family and friends of Kathryn Sladek Smith (PPD/RPCI.07). The scientific development and funding for this project were in part supported by the US National Cancer Institute GAME-ON Post-GWAS Initiative (U19-CA148112). This study made use of data generated by the Wellcome Trust Case Control consortium that was funded by the Wellcome Trust under award 076113. The OCAC OncoArray genotyping project was funded through grants from the U.S. National Institutes of Health (CA1X01HG007491-01 (C.I.A.), U19-CA148112 (T.A.S.), R01-CA149429 (C.M.P.) and R01-CA058598 (M.T.G.); Canadian Institutes of Health Research (MOP-86727 (L.E.K.) and the Ovarian Cancer Research Fund (A.B.). The COGS project was funded through a European Commission’s Seventh Framework Programme grant (agreement number 223175 - HEALTH-F2-2009-223175). Funding for individual studies: A.A.S.: National Institutes of Health (RO1-CA142081); A.O.V.: The Canadian Institutes for Health Research (MOP-86727); A.U.S.: The Australian Ovarian Cancer Study Group was supported by the U.S. Army Medical Research and Materiel Command (DAMD17-01-1-0729), National Health & Medical Research Council of Australia (199600, 400413 and 400281), Cancer Councils of New South Wales, Victoria, Queensland, South Australia and Tasmania and Cancer Foundation of Western Australia (Multi-State Applications 191, 211 and 182). The Australian Ovarian Cancer Study gratefully acknowledges additional support from Ovarian Cancer Australia and the Peter MacCallum Foundation; B.A.V.: ELAN Funds of the University of Erlangen-Nuremberg; B.E.L.: National Kankerplan; B.G.S.: Breast Cancer Now and the UK NIHR Biomedical Research Centre at the Institute of Cancer Research. B.V.U.: National Institutes of Health/National Center for Advancing Translational Sciences (ULTR000445 and 1S10RR025141-01); C.A.M.: National Institutes of Health Research Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Cancer Centre; C.H.A.: Innovative Research Team in University (PCSIRT) in China (IRT1076); C.N.I.: Instituto de Salud Carlos III (PI 12/01319); Ministerio de Economía y Competitividad (SAF2012); C.O.E.: Department of Defense (W81XWH-11-2-0131); C.O.N.: National Institutes of Health (R01-CA063678, R01-CA074850; R01-CA080742); D.K.E.: Ovarian Cancer Research Fund; D.O.V.: National Institutes of Health (R01-CA112523 and R01-CA87538); E.M.C.: Dutch Cancer Society (EMC 2014-6699); E.P.C.: The coordination of EPIC is financially supported by the European Commission (DG-SANCO) and the International Agency for Research on Cancer. The national cohorts are supported by Danish Cancer Society (Denmark); Ligue Contre le Cancer, Institut Gustave Roussy, Mutuelle Générale de l’Education Nationale, Institut National de la Santé et de la Recherche Médicale (INSERM) (France); German Cancer Aid, German Cancer Research Center (DKFZ), Federal Ministry of Education and Research (BMBF) (Germany); the Hellenic Health Foundation (Greece); Associazione Italiana per la Ricerca sul Cancro-AIRC-Italy and National Research Council (Italy); Dutch Ministry of Public Health, Welfare and Sports (VWS), Netherlands Cancer Registry (NKR), LK Research Funds, Dutch Prevention Funds, Dutch ZON (Zorg Onderzoek Nederland), World Cancer Research Fund (WCRF), Statistics Netherlands (The Netherlands); ERC-2009-AdG 232997 and Nordforsk, Nordic Centre of Excellence programme on Food, Nutrition and Health (Norway); Health Research Fund (FIS), PI13/00061 to Granada, PI13/01162 to EPIC-Murcia, Regional Governments of Andalucía, Asturias, Basque Country, Murcia and Navarra, ISCIII RETIC (RD06/0020) (Spain); Swedish Cancer Society, Swedish Research Council and County Councils of Skåne and Västerbotten (Sweden); Cancer Research UK (14136, C570/A16491 and C8221/A19170), UK Medical Research Council (1000143 and MR/M012190/1); G.E.R.: German Federal Ministry of Education and Research, Programme of Clinical Biomedical Research (01 GB 9401) and the German Cancer Research Center; G.R.C.: the European Union (European Social Fund - ESF) and Greek national funds through the Operational Program “Education and Lifelong Learning” of the National Strategic Reference Framework - Research Funding Program of the General Secretariat for Research & Technology (SYN11_10_19); G.R.R.: Roswell Park Cancer Institute Alliance Foundation (P30 CA016056); H.A.W.: U.S. National Institutes of Health (R01-CA58598, N01-CN-55424 and N01-PC-67001); H.J.O.: German Research Foundation (Do 761/15-1); Rudolf-Bartling Foundation; H.M.O.: Intramural funding; Rudolf-Bartling Foundation; H.O.C.: Helsinki University Research Fund; H.O.P.: Department of Defense (DAMD17-02-1-0669) and NCI (K07-CA080668, R01-CA95023, P50-CA159981 MO1-RR000056 R01-CA126841); H.U.O.: German Research Foundation (Do 761/15-1); Rudolf-Bartling Foundation; J.G.O.: JSPS KAKENHI grant; J.P.N.: Grant-in-Aid for the Third Term Comprehensive 10-Year Strategy for Cancer Control from the Ministry of Health, Labour and Welfare; K.R.A.: Korea Health Technology R&D Project through the Korea Health Industry Development Institute, and the National R&D Program for Cancer Control, Ministry of Health & Welfare, Republic of Korea (HI16C1127; 0920010); L.A.X.: American Cancer Society Early Detection Professorship (SIOP-06-258-01-COUN) and the National Center for Advancing Translational Sciences (UL1TR000124); L.U.N.: European Research Council (ERC-2011-AdG 294576), Swedish Cancer Society, Swedish Research Council, Beta Kamprad Foundation; M.A.C.: National Institutes of Health (R01-CA122443, P30-CA15083, P50-CA136393); Mayo Foundation; Minnesota Ovarian Cancer Alliance; Fred C. and Katherine B. Andersen Foundation; Fraternal Order of Eagles; M.A.L.: National Institutes for Health (R01- CA61107) Danish Cancer Society (94 222 52) from the, Copenhagen, Denmark; and the Mermaid I project; M.A.S.: Malaysian Ministry of Higher Education (UM.C/HlR/MOHE/06) and Cancer Research Initiatives Foundation; M.A.Y.: National Institutes of Health (R01-CA122443, P30-CA15083, P50-CA136393); Mayo Foundation; Minnesota Ovarian Cancer Alliance; Fred C. and Katherine B. Andersen Foundation; M.C.C.: Cancer Council Victoria, National Health and Medical Research Council of Australia (NHMRC) grants number 209057, 251533, 396414, and 504715; M.D.A.: DOD Ovarian Cancer Research Program (W81XWH-07-0449); M.E.C.: NIH (CA54281, CA164973, CA63464); M.O.F.: Moffitt Cancer Center, Merck Pharmaceuticals, the state of Florida, Hillsborough County, and the city of Tampa; N.C.O.: National Institutes of Health (R01-CA76016) and the Department of Defense (DAMD17-02-1-0666); N.E.C.: National Institutes of Health R01-CA54419 and P50-CA105009 and Department of Defense W81XWH-10-1-02802; N.H.S.: UM1 CA186107, P01 CA87969, R01 CA49449, R01-CA67262, UM1 CA176726; N.J.O.: National Cancer Institute (NIH-K07 CA095666, R01-CA83918, NIH-K22-CA138563, and P30-CA072720) and the Cancer Institute of New Jersey; If Sara Olson and/or Irene Orlow is a co-author, please add NCI CCSG award (P30-CA008748) to the funding sources; N.O.R.: Helse Vest, The Norwegian Cancer Society, The Research Council of Norway; N.T.H.: Radboud University Medical Centre; O.P.L.: National Health and Medical Research Council (NHMRC) of Australia (APP1025142) and Brisbane Women’s Club; O.R.E.: OHSU Foundation; O.V.A.: This work was supported by Canadian Institutes of Health Research grant (MOP-86727) and by NIH/NCI 1 R01CA160669-01A1; P.L.C.: Intramural Research Program of the National Cancer Institute; P.O.C.: Pomeranian Medical University; P.O.L.: Intramural Research Program of the National Cancer Institute; P.V.D.: Canadian Cancer Society and Cancer Research Society GRePEC Program; R.B.H.: National Health and Medical Research Council of Australia; R.M.H.: Cancer Research UK, Royal Marsden Hospital; R.P.C.: National Institute of Health (P50 CA159981, R01CA126841); S.E.A.: Cancer Research UK (C490/A10119 C490/A10124 C490/A16561); UK National Institute for Health Research Biomedical Research Centres at the University of Cambridge; S.I.S.: NIH, National Institute of Environmental Health Sciences, Z01 ES044005 and Z01-ES049033; S.M.C.: The Swedish Research Council; S.O.N.: National Health Research and Development Program, Health Canada, grant 6613-1415-53; S.R.O.: Cancer Research UK (C536/A13086, C536/A6689) and Imperial Experimental Cancer Research Centre (C1312/A15589); S.T.A.: NIH grants U01 CA71966 and U01 CA69417; S.W.E.: Swedish Cancer foundation, WeCanCureCancer and årKampMotCancer foundation; S.W.H.: NIH (NCI) grant R37-CA070867; T.B.O.: National Institutes of Health (R01-CA106414-A2), American Cancer Society (CRTG-00-196-01-CCE), Department of Defense (DAMD17-98-1-8659), Celma Mastery Ovarian Cancer Foundation; T.O.R.: NIH grants R01 CA063678 and R01 CA063682; U.C.I.: NIH R01-CA058860 and the Lon V Smith Foundation grant LVS-39420; U.H.N.: Princess Margaret Cancer Centre Foundation-Bridge for the Cure; U.K.O.: The UKOPS study was funded by The Eve Appeal (The Oak Foundation) and supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre; U.K.R.: Cancer Research UK (C490/A6187), UK National Institute for Health Research Biomedical Research Centres at the University of Cambridge; U.S.C.: P01CA17054, P30CA14089, R01CA61132, N01PC67010, R03CA113148, R03CA115195, N01CN025403, and California Cancer Research Program (00-01389V-20170, 2II0200); V.A.N.: BC Cancer Foundation, VGH & UBC Hospital Foundation; V.T.L.: NIH K05-CA154337; W.M.H.: National Health and Medical Research Council of Australia, Enabling Grants ID 310670 & ID 628903. Cancer Institute NSW Grants 12/RIG/1-17 & 15/RIG/1-16; W.O.C.: National Science Centren (N N301 5645 40) The Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland. This work was supported by the Gray Foundation. GCT and ABS are NHMRC Research Fellows. iCOGS: the European Community’s Seventh Framework Programme under grant agreement n° 223175 (HEALTH-F2-2009-223175) (COGS), Cancer Research UK (C1287/A10118, C1287/A 10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C8197/A16565), the National Institutes of Health (CA128978) and Post-Cancer GWAS initiative (1U19 CA148537, 1U19 CA148065 and 1U19 CA148112 - the GAME-ON initiative), the Department of Defence (W81XWH-10-1-0341), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer (CRN-87521), and the Ministry of Economic Development, Innovation and Export Trade (PSR-SIIRI-701), Komen Foundation for the Cure, the Breast Cancer Research Foundation, and the Ovarian Cancer Research Fund. OncoArray: the PERSPECTIVE and PERSPECTIVE I&I projects funded by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research, the ‘Ministère de l’Économie, de la Science et de l’Innovation du Québec’ through Genome Québec, and the Quebec Breast Cancer Foundation; the NCI Genetic Associations and Mechanisms in Oncology (GAME-ON) initiative and Discovery, Biology and Risk of Inherited Variants in Breast Cancer (DRIVE) project (NIH Grants U19 CA148065 and X01HG007492); and Cancer Research UK (C1287/A10118 and C1287/A16563). ACBRCA: FAPESP/Fundação de Amparo à Pesquisa do Estado de São Paulo (2014/50943-1) São Paulo, Brazil, CNPq/Conselho Nacional de Desenvolvimento Científico e Tecnológico (465682/2014-6), Brazil. BCFR: U01 CA164920 from the National Cancer Institute. The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government or the BCFR. BFBOCC: Lithuania (BFBOCC-LT): Research Council of Lithuania grant SEN-18/2015. BIDMC: Breast Cancer Research Foundation. BMBSA: Cancer Association of South Africa (PI Elizabeth J. van Rensburg). BRICOH: SLN was partially supported by the Morris and Horowitz Families Endowed Professorship. CNIO: CNIO study is partially funded by Instituto de Salud Carlos III, project reference PI19/00640, cofunded by the European Regional Development Fund (ERDF), “A way to make Europe” and the Spanish Network on Rare Diseases (CIBERER). CCGCRN: Research reported in this publication was supported by the Breast Cancer Research Foundation (project 20-172), National Cancer Institute of the National Institutes of Health under grant number R25CA112486, and RC4CA153828 (PI: J. Weitzel) from the National Cancer Institute and the Office of the Director, National Institutes of Health. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. CONSIT TEAM: Associazione Italiana Ricerca sul Cancro (AIRC; IG2015 no.16732) to P. Peterlongo. This work was partially supported by the Italian Ministry of Health with Ricerca Corrente and 5×1000 Funds (European Institute of Oncology). CZECANCA: Charles University/VFN projects Cooperatio - Laboratory Diagnostics/Medical Genetics, NU20-03-00285, NU20-09-00355, NU20-03-00016/ RVO-VFN 64165. DEMOKRITOS: European Union (European Social Fund – ESF) and Greek national funds through the Operational Program “Education and Lifelong Learning” of the National Strategic Reference Framework (NSRF) - Research Funding Program of the General Secretariat for Research & Technology: SYN11_10_19 NBCA. Investing in knowledge society through the European Social Fund. DFKZ: German Cancer Research Center. EMBRACE: Cancer Research UK Grants PRCPJT-Nov21\100004, C1287/A23382 and C1287/A26886. D. Gareth Evans and Fiona Lalloo are supported by an NIHR grant to the Biomedical Research Centre, Manchester. The Investigators at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust are supported by an NIHR grant to the Biomedical Research Centre at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust. Ros Eeles and Elizabeth Bancroft are supported by Cancer Research UK Grant C5047/A8385. Ros Eeles is also supported by NIHR support to the Biomedical Research Centre at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust. The FCCC and KUMC cohorts: The University of Kansas Cancer Center (P30 CA168524), the Kansas Institute for Precision Medicine (P20GM130423) and the Kansas Bioscience Authority Eminent Scholar Program. A.K.G. was funded by R01CA140323, R01CA214545, R01CA260132, 5U10CA180888, and by the Chancellors Distinguished Chair in Biomedical Sciences Professorship. FPGMX: A.Vega is supported by the Spanish Health Research Foundation, Instituto de Salud Carlos III (ISCIII), partially supported by FEDER funds through Research Activity Intensification Program (contract grant numbers: INT15/00070, INT16/00154, INT17/00133, INT20/00071), and through Centro de Investigación Biomédica en Red de Enferemdades Raras CIBERER (ACCI 2016: ER17P1AC7112/2018); Autonomous Government of Galicia (Consolidation and structuring program: IN607B), and by the Fundación Mutua Madrileña and Asociación Española Contra el Cáncer (AECC). GC-HBOC: German Cancer Aid (grant no 110837 and 113049, Rita K. Schmutzler), Federal Ministry of Education and Research, Germany (grant no 01GY1901), and the European Regional Development Fund and Free State of Saxony, Germany (LIFE - Leipzig Research Centre for Civilization Diseases, project numbers 713-241202, 713-241202, 14505/2470, 14575/2470). GEMO, a study from the National Cancer Genetics Network UNICANCER Genetic Group, France.: Ligue Nationale Contre le Cancer; the Association “Le cancer du sein, parlons-en!” Award, the Canadian Institutes of Health Research for the “CIHR Team in Familial Risks of Breast Cancer” program, the Fondation ARC pour la recherche sur le cancer (grant PJA 20151203365) and the French National Institute of Cancer (INCa grants AOR 01 082, 2001-2003, 2013-1-BCB-01-ICH-1 and SHS-E-SP 18-015). GEORGETOWN: the Non-Therapeutic Subject Registry Shared Resource at Georgetown University (NIH/NCI grant P30-CA051008), the Fisher Center for Hereditary Cancer and Clinical Genomics Research, and Swing Fore the Cure. HCSC: Spanish Ministry of Science and Innovation, ISCIII (Hayley) co-funded by FEDER Regional Development European Funds (EU). HEBCS: Helsinki University Hospital Research Fund, the Finnish Cancer Society and the Sigrid Juselius Foundation. The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON) consists of the following Collaborating Centers: Netherlands Cancer Institute; Erasmus Medical Center, Rotterdam; Leiden University Medical Center; Radboud University Nijmegen Medical Center; University Medical Center Utrecht; Amsterdam UMC, Univ of Amsterdam; Amsterdam UMC, Vrije Universiteit Amsterdam; Maastricht University Medical Center; University of Groningen; and acknowledges contributions of the Netherlands Comprehensive Cancer Organisation (IKNL), the nationwide network and registry of histo- and cytopathology in The Netherlands (PALGA), the Dutch Cancer Society grants NKI1998-1854, NKI2004-3088, NKI2007-3756, the Netherlands Organization of Scientific Research grant NWO 91109024, the Pink Ribbon grants 110005 and 2014-187.WO76, the BBMRI grant NWO 184.021.007/CP46 and the Transcan grant JTC 2012 Cancer 12-054. HEBCS: The Helsinki University Hospital Research Fund, The Sigrid Jusélius Foundation, The Cancer Foundation Finland. HRBCP: Hong Kong Sanatorium and Hospital, Dr Ellen Li Charitable Foundation, The Kerry Group Kuok Foundation, National Institute of Health1R 03CA130065, and North California Cancer Center. HUNBOCS: Hungarian Research Grants KTIA-OTKA CK-80745, NKFI_OTKA K-112228, and NKFI-FK-135065. HVH/VHIO: Orland Díez, Sara Gutiérrez-Enríquez and Judith Balmaña were funded by the Spanish Instituto de Salud Carlos III (ISCIII), an initiative of the Spanish Ministry of Economy and Innovation, partially supported by European Regional Development FEDER Funds, grant numbers PI16/01218, PI16/11363, PI19/01195 and PI19/01303 ICO: The authors would like to particularly acknowledge the support of the Asociación Española Contra el Cáncer (AECC), the Instituto de Salud Carlos III (organismo adscrito al Ministerio de Economía y Competitividad) and “Fondo Europeo de Desarrollo Regional (FEDER), una manera de hacer Europa” (PI10/01422, PI13/00285, PIE13/00022, PI15/00854, PI16/00563 and CIBERONC) and the Institut Català de la Salut and Autonomous Government of Catalonia (2009SGR290, 2014SGR338 and PERIS Project MedPerCan). ICARE: Inherited Cancer Registry (ICARE) based at the Vanderbilt-Ingram Cancer Center is funded, in part, through the Ingram Professorship. IFBCRC (Iranian Familial Breast Cancer Research Consortium) is funded by MCI (Motamed Cancer Institute) of ACECR. IHCC: PBZ_KBN_122/P05/2004 and the program of the Minister of Science and Higher Education under the name “Regional Initiative of Excellence” in 2019–2022 project number 002/RID /2018/19 amount of financing 12 000 000 PLN. INHERIT: Canadian Institutes of Health Research for the “CIHR Team in Familial Risks of Breast Cancer” program – grant # CRN-87521 and the Ministry of Economic Development, Innovation and Export Trade – grant # PSR-SIIRI-701. IOVHBOCS: Ministero della Salute and “5x1000” Istituto Oncologico Veneto grant. IPOBCS: Liga Portuguesa Contra o Cancro. kConFab: The National Breast Cancer Foundation, and previously by the National Health and Medical Research Council (NHMRC), the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. KOHBRA: the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), and the National R&D Program for Cancer Control, Ministry of Health & Welfare, Republic of Korea (HI16C1127; 1020350; 1420190). MAYO: NIH grants CA116167, CA192393, CA176785, and CA253187 an NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201),and a grant from the Breast Cancer Research Foundation. The MACBRCA study is funded by the Research Centre for Genetic Engineering and Biotechnology (RCGEB) “Georgi D. Efremov”, Macedonian Academy of Sciences and Arts (MASA). MCGILL: Jewish General Hospital Weekend to End Breast Cancer, Quebec Ministry of Economic Development, Innovation and Export Trade. Marc Tischkowitz is supported by an NIHR grant to the Biomedical Research Centre, Cambridge. MODSQUAD: MH CZ - DRO (MMCI, 00209805), and by Charles University in Prague project UNCE204024 (MZ). MSKCC: the Breast Cancer Research Foundation, the Robert and Kate Niehaus Clinical Cancer Genetics Initiative, the Andrew Sabin Research Fund and a Cancer Center Support Grant/Core Grant (P30 CA008748). NAROD: 1R01 CA149429-01. NCCS: NMRC Clinician Scientist Award (CSA), Terry Fox Foundation, Lee Foundation, PRECISE, Ministry of Education and NCCS Cancer Fund. NCI: the Intramural Research Program of the US National Cancer Institute, NIH, and by support services contracts NO2-CP-11019-50, N02-CP-21013-63 and N02-CP-65504 with Westat, Inc, Rockville, MD. NICCC: Clalit Health Services in Israel, the Israel Cancer Association and the Breast Cancer Research Foundation (BCRF), NY. NNPIO: Russian Science Foundation (grant 21-75-30015). NRG Oncology: U10 CA180868, NRG SDMC grant U10 CA180822, NRG Administrative Office and the NRG Tissue Bank (CA 27469), the NRG Statistical and Data Center (CA 37517) and the Intramural Research Program, NCI. OSUCCG: Ohio State University Comprehensive Cancer Center. OBRCA: funding from the Norwegian Cancer Society, contract 194751-2017. PBCS: Italian Association of Cancer Research (AIRC) [IG 2013 N.14477] and Tuscany Institute for Tumors (ITT) grant 2014-2015-2016. PCCM-CTCR is supported by the Corporate Social Responsibility Fund from Bajaj Auto Ltd, Grant GC-2528. SEABASS: Ministry of Science, Technology and Innovation, Ministry of Higher Education (UM.C/HlR/MOHE/06) and Cancer Research Initiatives Foundation. SGBCC was supported by the National Research Foundation Singapore (NRF-NRFF2017-02), NUS start-up Grant, National University Cancer Institute Singapore (NCIS) Centre Grant [NMRC/CG/NCIS/2010, NMRC/CG/012/2013, CGAug16M005], Breast Cancer Prevention Programme (BCPP), Asian Breast Cancer Research Fund, and the NMRC Clinician Scientist Award (SI Category) [NMRC/CSA-SI/0015/2017]. SMC: the Israeli Cancer Association. SWE-BRCA: the Swedish Cancer Society. UCHICAGO: NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA125183), R01 CA142996, 1U01CA161032 and by the Ralph and Marion Falk Medical Research Trust, the Entertainment Industry Fund National Women’s Cancer Research Alliance and the Breast Cancer research Foundation. OIO is an ACS Clinical Research Professor. UCLA: Jonsson Comprehensive Cancer Center Foundation; Breast Cancer Research Foundation. UCSF: UCSF Cancer Risk Program and Helen Diller Family Comprehensive Cancer Center. UKFOCR: Cancer Research UK. UPENN: Breast Cancer Research Foundation; Susan G. Komen Foundation for the cure, Basser Research Center for BRCA, NCI P30 CA016520. UPITT/MWH: Hackers for Hope Pittsburgh. VFCTG: Victorian Cancer Agency, Cancer Australia, National Breast Cancer Foundation. WCP: Dr Karlan is funded by the American Cancer Society Early Detection Professorship (SIOP-06-258-01-COUN) and the National Center for Advancing Translational Sciences (NCATS), Grant UL1TR000124. We are grateful to the family and friends of Kathryn Sladek Smith for their generous support of the Ovarian Cancer Association Consortium through their donations to the Ovarian Cancer Research Fund. The OncoArray and COGS genotyping projects would not have been possible without the contributions of the following: Per Hall (COGS); Douglas F. Easton, Kyriaki Michailidou, Manjeet K. Bolla, Qin Wang (BCAC), Marjorie J. Riggan (OCAC), Rosalind A. Eeles, Ali Amin Al Olama, Zsofia Kote-Jarai, Sara Benlloch (PRACTICAL), Joe Dennis, Alison M. Dunning, Andrew Lee, Ed Dicks, Craig Luccarini and the staff of the Centre for Genetic Epidemiology Laboratory, Javier Benitez, Anna Gonzalez-Neira and the staff of the CNIO genotyping unit, Jacques Simard and Daniel C. Tessier, Francois Bacot, Daniel Vincent, Sylvie LaBoissière and Frederic Robidoux and the staff of the McGill University and Génome Québec Innovation Centre, Stig E. Bojesen, Sune F. Nielsen, Borge G. Nordestgaard, and the staff of the Copenhagen DNA laboratory, and Julie M. Cunningham, Sharon A. Windebank, Christopher A. Hilker, Jeffrey Meyer and the staff of Mayo Clinic Genotyping Core Facility. We thank the study participants, doctors, nurses, clinical and scientific collaborators, health care providers and health information sources who have contributed to the many studies contributing to this manuscript. We thank all the women who have taken part in the contributing studies and we acknowledge the many study nurses, research assistants and all clinical and scientific collaborators. We thank the following individuals for their contribution to individual studies: A.O.V.: Jennifer Koziak, Mie Konno, Michelle Darago, Faye Chambers and the Tom Baker Cancer Centre Translational Laboratories; A.U.S.: The complete AOCS Study Group can be found at www.aocstudy.org B.E.L.: Gilian Peuteman, Thomas Van Brussel, Annick Van den Broeck and Joke De Roover; B.V.U.: The dataset(s) used for the analyses described were obtained from; C.A.M.: This work was supported by Cancer Research UK; the University of Cambridge; National Institute for Health Research Cambridge Biomedical Research Centre; C.H.A.: Innovative Research Team in University (PCSIRT) in China (IRT1076); C.H.N.: To thank all members of Department of Obstetrics and Gynaecology, Hebei Medical University, Fourth Hospital and Department of Molecular Biology, Hebei Medical University, Fourth Hospital; C.O.E.: Gynecologic Cancer Center of Excellence (W81XWH-11-2-0131); C.O.N.: The cooperation of the 32 Connecticut hospitals, including Stamford Hospital, in allowing patient access, is gratefully acknowledged. This study was approved by the State of Connecticut Department of Public Health Human Investigation Committee. Certain data used in this study were obtained from the Connecticut Tumor Registry in the Connecticut Department of Public Health. The authors assume full responsibility for analyses and interpretation of these data; D.K.E.: OCRF; E.P.C.: To thank all members and investigators of the Rotterdam Ovarian Cancer Study. Dutch Cancer Society (EMC 2014-6699); G.E.R.: The German Ovarian Cancer Study (GER) thank Ursula Eilber for competent technical assistance; H.O.C.: The study was supported by the Helsinki University Research Fund; J.G.O.: JSPS KAKENHI grant; K.R.A.: This study (Ko-EVE) was supported by a grant from the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), and the National R&D Program for Cancer Control, Ministry of Health & Welfare, Republic of Korea (HI16C1127; 0920010); L.U.N.: ERC -2011-AdG, Swedish Cancer Society, Swedish Research Council; M.A.S.: We would like to thank Famida Zulkifli and Ms Moey for assistance in patient recruitment, data collection and sample preparation. The Malaysian Ovarian Cancer Genetic Study is funded by research grants from the Malaysian Ministry of Higher Education (UM.C/HIR/MOHE/06) and charitable funding from Cancer Research Initiatives Foundation (MAY: P30-CA015083, P50-CA1363936, R01-CA248288); M.C.C.: MCCS cohort recruitment was funded by VicHealth and Cancer Council Victoria. The MCCS was further supported by Australian NHMRC grants 209057, 251553 and 504711 and by infrastructure provided by Cancer Council Victoria. Cases and their vital status were ascertained through the Victorian Cancer Registry (VCR) and the Australian Institute of Health and Welfare (AIHW), including the National Death Index and the Australian Cancer Database; M.O.F.: the Total Cancer Care™ Protocol and the Collaborative Data Services and Tissue Core Facilities at the H. Lee Moffitt Cancer Center & Research Institute, an NCI designated Comprehensive Cancer Center (P30-CA076292), Merck Pharmaceuticals and the state of Florida; N.H.S.: The NHS/NHSII studies thank the following state cancer registries for their help: AL, AZ, AR, CA, CO, CT, DE, FL, GA, ID, IL, IN, IA, KY, LA, ME, MD, MA, MI, NE, NH, NJ, NY, NC, ND, OH, OK, OR, PA, RI, SC, TN, TX, VA, WA, and WY; N.J.O.: contact Elisa Bandera; O.P.L.: Members of the OPAL Study Group (http://opalstudy.qimrberghofer.edu.au/); R.P.C.: National Institute of Health (P50 CA159981, R01CA126841); S.E.A.: SEARCH team, Craig Luccarini, Caroline Baynes, Don Conroy; S.I.S.: The Sister Study (SISTER) is supported by the Intramural Research Program of the NIH, National Institute of Environmental Health Sciences (Z01-ES044005 and Z01-ES049033); S.O.N.: National Health Research and Development Program, Health Canada, grant 6613-1415-53; S.R.O.: To thank all members of Scottish Gynaecological Clinical Trails group and SCOTROC1 investigators; S.W.E.: Swedish Cancer foundation, WeCanCureCancer and årKampMotCancer foundation; S.W.H.: The SWHS is supported primarily by NIH grant R37-CA070867. We thank the participants and the research staff of the Shanghai Women’s Health Study for making this study possible; U.C.I.: The UCI Ovarian cancer study is supported by the National Institutes of Health, National Cancer Institute grants CA58860, and the Lon V Smith Foundation grant LVS-39420; U.H.N.: Princess Margaret Cancer Centre Foundation-Bridge for the Cure; U.K.O.: We particularly thank I. Jacobs, M.Widschwendter, E. Wozniak, A. Ryan, J. Ford and N. Balogun for their contribution to the study; U.K.R.: Carole Pye; V.A.N.: BC Cancer Foundation, VGH & UBC Hospital Foundation; W.M.H.: We thank the Gynaecological Oncology Biobank at Westmead, a member of the Australasian Biospecimen Network-Oncology group, which is funded by the National Health and Medical Research Council Enabling Grants ID 310670 & ID 628903 and the Cancer Institute NSW Grants 12/RIG/1-17 & 15/RIG/1-16 with financial support from the Sydney West Translational Cancer Research Centre, funded by the Cancer Institute NSW (15/TRC/1-01). All the families and clinicians who contribute to the studies; Catherine M. Phelan for her contribution to CIMBA until she passed away on 22 September 2017; Sue Healey, in particular taking on the task of mutation classification with the late Olga Sinilnikova; clinicians, patients, researchers, technicians and nurses of A.C. Camargo Cancer Center for their contribution to this study; Oncogenetic Department, Clinical and Functional Genomics Group, Center of Genomic Diagnostics, Biobank and other International Research Center-CIPE’ facilities at AC. Camargo Cancer Center, especially Karina Miranda Santiago, Giovana Tardin Torrezan, José Claudio Casali, Nirvana Formiga and Fabiana Baroni Makdissi; Maggie Angelakos, Judi Maskiell, Gillian Dite, Helen Tsimiklis; members and participants in the New York site of the Breast Cancer Family Registry; members and participants in the Ontario Familial Breast Cancer Registry; Vilius Rudaitis and Laimonas Griškevičius; Drs Janis Eglitis, Anna Krilova and Aivars Stengrevics; Yuan Chun Ding and Linda Steele for their work in participant enrollment and biospecimen and data management; Bent Ejlertsen and Anne-Marie Gerdes for the recruitment and genetic counseling of participants; Alicia Barroso, Rosario Alonso and Guillermo Pita; all the individuals and the researchers who took part in CONSIT TEAM (Consorzio Italiano Tumori Ereditari Alla Mammella), in particular: Jacopo Azzollini, Bernard Peissel, Daniela Zaffaroni, Laura Ottini, Giuseppe Giannini, Gabriele Lorenzo Capone, Liliana Varesco, Viviana Gismondi, Maria Grazia Tibiletti, Daniela Furlan, Antonella Savarese, Aline Martayan, Stefania Tommasi, Brunella Pilato, Bernardo Bonanni, Maria Rosaria Calvello, Irene Feroce, Monica Marabelli, Matilde Risti, Cristina Zanzottera, Loris Bernard, Elena Marino and the personnel of the Cogentech Cancer Genetic Test Laboratory, Milan, Italy. The FCCC cohort (Godwin) acknowledges Ms. JoEllen Weaver and Dr. Betsy Bove, and the KUMC cohort (Sharma and Godwin) acknowledge the support of Michele Park, Lauren DiMartino, Alex Webster and the current and past members of the Biospecimen Repository Core Facility (BRCF) at KUMC; all participants, clinicians, family doctors, researchers, and technicians for their contributions and commitment to the DKFZ study and the collaborating groups in Lahore, Pakistan (Noor Muhammad, Sidra Gull, Seerat Bajwa, Faiz Ali Khan, Humaira Naeemi, Saima Faisal, Asif Loya, Mohammed Aasim Yusuf) and Bogota, Colombia (Diana Torres, Ignacio Briceno, Fabian Gil). FPGMX: members of the Cancer Genetics group (IDIS): Ana Blanco, Miguel Aguado, Uxía Esperón and Belinda Rodríguez; the GIIS025 research nurses and staff for their contributions to this resource, and the many families who contribute to GIIS025; IFE - Leipzig Research Centre for Civilization Diseases (Markus Loeffler, Joachim Thiery, Matthias Nüchter, Ronny Baber); Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers (GEMO) study is a study from the National Cancer Genetics Network UNICANCER Genetic Group, France. We wish to pay a tribute to Olga M. Sinilnikova, who with Dominique Stoppa-Lyonnet initiated and coordinated GEMO until she sadly passed away on the 30th June 2014. The team in Lyon (Olga Sinilnikova, Mélanie Léoné, Laure Barjhoux, Carole Verny-Pierre, Sylvie Mazoyer, Francesca Damiola, Valérie Sornin) managed the GEMO samples until the biological resource centre was transferred to Paris in December 2015 (Noura Mebirouk, Fabienne Lesueur, Dominique Stoppa-Lyonnet). We want to thank all the GEMO collaborating groups for their contribution to this study: Coordinating Centre, Service de Génétique, Institut Curie, Paris, France: Muriel Belotti, Ophélie Bertrand, Anne-Marie Birot, Bruno Buecher, Sandrine Caputo, Chrystelle Colas, Emmanuelle Fourme, Marion Gauthier-Villars, Lisa Golmard, Marine Le Mentec, Virginie Moncoutier, Antoine de Pauw, Claire Saule, Dominique Stoppa-Lyonnet, and Inserm U900, Institut Curie, Paris, France: Fabienne Lesueur, Noura Mebirouk, Yue Jiao. Contributing Centres : Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon - Centre Léon Bérard, Lyon, France: Nadia Boutry-Kryza, Alain Calender, Sophie Giraud, Mélanie Léone. Institut Gustave Roussy, Villejuif, France: Brigitte Bressac-de-Paillerets, Odile Cabaret, Olivier Caron, Marine Guillaud-Bataille, Etienne Rouleau. Centre Jean Perrin, Clermont–Ferrand, France: Yves-Jean Bignon, Nancy Uhrhammer. Centre Léon Bérard, Lyon, France: Valérie Bonadona, Sophie Dussart, Christine Lasset, Pauline Rochefort. Centre François Baclesse, Caen, France: Pascaline Berthet, Laurent Castera, Dominique Vaur. Institut Paoli Calmettes, Marseille, France: Violaine Bourdon, Catherine Noguès, Tetsuro Noguchi, Cornel Popovici, Audrey Remenieras, Hagay Sobol. CHU Arnaud-de-Villeneuve, Montpellier, France: Isabelle Coupier, Pascal Pujol. Centre Oscar Lambret, Lille, France: Claude Adenis, Aurélie Dumont, Françoise Révillion. Centre Paul Strauss, Strasbourg, France: Danièle Muller. Institut Bergonié, Bordeaux, France: Emmanuelle Barouk-Simonet, Françoise Bonnet, Virginie Bubien, Anaïs Dupré, Anne Floquet, Michel Longy, Marie Louty, Cécile Maninna, Nicolas Sevenet, Institut Claudius Regaud, Toulouse, France: Laurence Gladieff, Rosine Guimbaud, Viviane Feillel, Christine Toulas. CHU Grenoble, France: Hélène Dreyfus, Dominique Leroux, Clémentine Legrand, Christine Rebischung. CHU Dijon, France: Amandine Baurand, Geoffrey Bertolone, Fanny Coron, Laurence Faivre, Caroline Jacquot, Sarab Lizard, Sophie Nambot. CHU St-Etienne, France: Caroline Kientz, Marine Lebrun, Fabienne Prieur. Hôtel Dieu Centre Hospitalier, Chambéry, France: Sandra Fert Ferrer. Centre Antoine Lacassagne, Nice, France: Véronique Mari. CHU Limoges, France: Laurence Vénat-Bouvet. CHU Nantes, France: Stéphane Bézieau, Capucine Delnatte. CHU Bretonneau, Tours and Centre Hospitalier de Bourges France: Isabelle Mortemousque. Groupe Hospitalier Pitié-Salpétrière, Paris, France: Florence Coulet, Mathilde Warcoin. CHU Vandoeuvre-les-Nancy, France: Myriam Bronner, Johanna Sokolowska. CHU Besançon, France: Marie-Agnès Collonge-Rame. CHU Poitiers, Centre Hospitalier d’Angoulême and Centre Hospitalier de Niort, France: Stéphanie Chieze-Valero, Paul Gesta, Brigitte Gilbert-Dussardier. Centre Hospitalier de La Rochelle : Hakima Lallaoui. CHU Nîmes Carémeau, France : Jean Chiesa. CHI Poissy, France: Denise Molina-Gomes. CHU Angers, France : Olivier Ingster; CHU de Martinique, France: Odile Bera; Mickaelle Rose; Drs. Taru A. Muranen and Carl Blomqvist, RN Outi Malkavaara; The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON) consists of the following Collaborating Centers: Netherlands Cancer Institute (coordinating center), Amsterdam, NL: M.A. Rookus, F.B.L. Hogervorst, F.E. van Leeuwen, M.A. Adank, M.K. Schmidt, D.J. Jenner; Erasmus Medical Center, Rotterdam, NL: J.M. Collée, A.M.W. van den Ouweland, M.J. Hooning, I.A. Boere; Leiden University Medical Center, NL: C.J. van Asperen, P. Devilee, R.B. van der Luijt, T.C.T.E.F. van Cronenburg; Radboud University Nijmegen Medical Center, NL: M.R. Wevers, A.R. Mensenkamp; University Medical Center Utrecht, NL: M.G.E.M. Ausems, M.J. Koudijs; Amsterdam UMC, Univ of Amsterdam, NL: I. van de Beek; Amsterdam UMC, Vrije Universiteit Amsterdam, NL: K. van Engelen, J.J.P. Gille; Maastricht University Medical Center, NL: E.B. Gómez García, M.J. Blok, M. de Boer; University of Groningen, NL: L.P.V. Berger, A.H. van der Hout, M.J.E. Mourits, G.H. de Bock; The Netherlands Comprehensive Cancer Organisation (IKNL): S. Siesling, J. Verloop; The nationwide network and registry of histo- and cytopathology in The Netherlands (PALGA): E.C. van den Broek; the study participants and the registration teams of IKNL and PALGA for part of the HEBON data collection; Hong Kong Sanatorium and Hospital; the Hungarian Breast and Ovarian Cancer Study Group members (Attila Patócs, János Papp, Anikó Bozsik, Timea Pócza, Zoltán Mátrai, Lajos Géczi, National Institute of Oncology, Budapest, Hungary) and the clinicians and patients for their contributions to this study; Fatemeh Yadegari, Shiva Zarinfam and Rezvan Esmaeili for their role in participant enrollment and biospecimen and data management; the study participants and registration teams of the Hereditary Cancer Genetics Group of the Valld’Hebron Institute of Oncolgy (VHIO) and the Clinical and Molecular Genetics Department of the University Hospital Vall d’Hebron (HVH), the Cellex Foundation for providing research facilities, and CERCA Programme/Generalitat de Catalunya for institutional support; members and participants of the Inherited Cancer Registry (ICARE); the ICO Hereditary Cancer Program team led by Dr. Gabriel Capella; the ICO Hereditary Cancer Program team led by Dr. Gabriel Capella; Dr Martine Dumont for sample management and skillful assistance; Catarina Santos and Pedro Pinto; members of the Center of Molecular Diagnosis, Oncogenetics Department and Molecular Oncology Research Center of Barretos Cancer Hospital; Heather Thorne, Eveline Niedermayr, all the kConFab research nurses and staff, the heads and staff of the Family Cancer Clinics, and the Clinical Follow Up Study (which has received funding from the NHMRC, the National Breast Cancer Foundation, Cancer Australia, and the National Institute of Health (USA)) for their contributions to this resource, and the many families who contribute to kConFab; the KOBRA Study Group; all participants and the collaborators from RCGEB “Georgi D. Efremov”, MASA (Ivana Maleva Kostovska, Simona Jakovcevska, Sanja Kiprijanovska), University Clinic of Radiotherapy and Oncology (Snezhana Smichkoska, Emilija Lazarova, Marina Iljovska), Adzibadem-Sistina Hospital (Katerina Kubelka-Sabit, Dzengis Jasar, Mitko Karadjozov), and Re-Medika Hospital (Andrej Arsovski and Liljana Stojanovska) for their contributions and commitment to the MACBRCA study; Csilla Szabo (National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA); Eva Machackova (Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute and MF MU, Brno, Czech Republic); Petra Kleiblova, Marketa Janatova, Jana Soukupova (Institute of Medical Biochemistry and Laboratory Diagnostics, 1st Faculty of Medicine, Charles University and General University Hospital in Prague (VFN), Czechia), Petra Zemankova, Petr Nehasil (Institute of Pathological Physiology, 1st Faculty of Medicine, Charles University, Czechia), Michal Vocka (Department of Oncology, General University Hospital in Prague (VFN), Czechia), Anne Lincoln, Lauren Jacobs; the participants in Hereditary Breast/Ovarian Cancer Study and Breast Imaging Study for their selfless contributions to our research; the NICCC National Familial Cancer Consultation Service team led by Sara Dishon, the lab team led by Dr. Flavio Lejbkowicz, and the research field operations team led by Dr. Mila Pinchev; the staff of Genetic Health Service NZ and the families who have contributed; members and participants in the Ontario Cancer Genetics Network; Hayley Cassingham. Leigha Senter, Kevin Sweet, Julia Cooper, and Amber Aielts; research nurses and staff of Breast Unit, Pauls Stradins Clinical University Hopsital, RSUIO and the many families who contribute to the CIMBA registry of RSUIO; Yip Cheng Har, Nur Aishah Mohd Taib, Phuah Sze Yee, Norhashimah Hassan and all the research nurses, research assistants and doctors involved in the MyBrCa Study for assistance in patient recruitment, data collection and sample preparation, Philip Iau, Sng Jen-Hwei and Sharifah Nor Akmal for contributing samples from the Singapore Breast Cancer Study and the HUKM-HKL Study respectively; the National Cancer Centre Singapore Cancer Genetics Service (NCCS) for patient recruitement; the Meirav Comprehensive breast cancer center team at the Sheba Medical Center; Christina Selkirk; Åke Borg, Håkan Olsson, Helena Jernström, Karin Henriksson, Katja Harbst, Maria Soller, Ulf Kristoffersson; from Gothenburg Sahlgrenska University Hospital: Anna Öfverholm, Margareta Nordling, Per Karlsson, Zakaria Einbeigi; from Stockholm and Karolinska University Hospital: Anna von Wachenfeldt, Annelie Liljegren, Annika Lindblom, Brita Arver, Gisela Barbany Bustinza, Johanna Rantala; from Umeå University Hospital: Beatrice Melin, Christina Edwinsdotter Ardnor, Monica Emanuelsson; from Uppsala University: Hans Ehrencrona, Maritta Hellström Pigg, Richard Rosenquist; from Linköping University Hospital: Marie Stenmark-Askmalm, Sigrun Liedgren; Cecilia Zvocec, Qun Niu; Joyce Seldon and Lorna Kwan; Dr. Robert Nussbaum, Beth Crawford, Kate Loranger, Julie Mak, Nicola Stewart, Robin Lee, Amie Blanco and Peggy Conrad and Salina Chan; Patricia Harrington; Geoffrey Lindeman, Marion Harris, Joanne McKinley, Simone McInerny, and Ella Thompson for performing all DNA amplification. This research has been conducted using the UK Biobank Resource under Application Number 28126. We want to acknowledge the participants and investigators of the FinnGen study. The BioBank Japan Project was supported by the Tailor-Made Medical Treatment program of the Ministry of Education, Culture, Sports, Science, and Technology (MEXT), the Japan Agency for Medical Research and Development (AMED). The Genotype-Tissue Expression (GTEx) Project was supported by the Common Fund of the Office of the Director of the National Institutes of Health, and by NCI, NHGRI, NHLBI, NIDA, NIMH, and NINDS. The data used for the analyses described in this manuscript were obtained from: https://gtexportal.org/home/gene/ the GTEx Portal on 03/31/2023.
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