{"id":"W4416413263","doi":"10.1038/s41525-025-00529-w","title":"Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer","year":2025,"lang":"en","type":"article","venue":"npj Genomic Medicine","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; University of British Columbia; Sinai Health System; Vancouver General Hospital; Lunenfeld-Tanenbaum Research Institute; Centre hospitalier universitaire de Québec; Princess Margaret Cancer Centre; BC Cancer Agency; University of Toronto","funders":"Medical Research and Materiel Command; Jonsson Comprehensive Cancer Center; National Center for Research Resources; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; NIH Office of the Director; National Human Genome Research Institute; National Institute of Mental Health; National Cancer Institute; European Regional Development Fund; Cancer Council Victoria; Cancer Center, University of Kansas; University of California, San Francisco; University of Texas MD Anderson Cancer Center; University of California, Los Angeles; National Institutes of Health; Unicancer; Kerry Group Kuok Foundation; Directorate for Biological Sciences; Hellenic Health Foundation; World Cancer Research Fund; BC Cancer Foundation; Freistaat Sachsen; Institut Català de la Salut; Centro de Investigación Biomédica en Red de Cáncer; Liga Portuguesa Contra o Cancro; Mutuelle Générale de l'Education Nationale; Hebei Medical University; Institut Gustave-Roussy; Ministero dello Sviluppo Economico; European Society for Medical Oncology; Common Fund; Uppsala Universitet; Clalit Health Services; Sigrid Juséliuksen Säätiö; National Health and Medical Research Council; Deutsche Krebshilfe; National Medical Research Council; Norges Forskningsråd; Pomorski Uniwersytet Medyczny W Szczecinie; Academic Center for Education, Culture and Research; Centre National de la Recherche Scientifique; Fox Chase Cancer Center; KWF Kankerbestrijding; National Council for Scientific Research; Maastricht Universitair Medisch Centrum; Merck Sharp and Dohme; Vetenskapsrådet; Helse Vest; National Institute on Drug Abuse; Odense Universitetshospital; Ligue Contre le Cancer; Linköpings Universitet; Cancer Association of South Africa; Hungarian Scientific Research Fund; Swedish Cancer Foundation; Ministry of Health, Labour and Welfare; Universität Wien; Cancerfonden; Terry Fox Foundation; Vrije Universiteit Amsterdam; Rijksuniversiteit Groningen; Ministero della Salute; Institut National de la Santé et de la Recherche Médicale; National Research Foundation Singapore; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Deutsche Forschungsgemeinschaft; American Cancer Society; Radboud Universiteit; Cancer Australia; Cancer Institute NSW; NIHR Cambridge Biomedical Research Centre; University College London; University of Toronto; Ministerio de Ciencia e Innovación; McGill University; Univerzita Karlova v Praze; Generalitat de Catalunya; Fondation ARC pour la Recherche sur le Cancer; Imperial College London; National Research Foundation; Jewish General Hospital; National Institute for Health and Care Research; NRG Oncology; University of Cambridge; Nemzeti Kutatási Fejlesztési és Innovációs Hivatal; Government of Canada; Genome Canada; GlaxoSmithKline; Fred C. and Katherine B. Andersen Foundation; Russian Science Foundation; Gray Foundation; Princeton Center for Complex Materials; Western Sydney Local Health District; PharmaMar; Associazione Italiana per la Ricerca sul Cancro; Amsterdam University Medical Centers; QIMR Berghofer Medical Research Institute; Fondation du cancer du sein du Québec; Génome Québec; Canadian Institutes of Health Research; Lietuvos Mokslo Taryba; European Commission; Cedars-Sinai Medical Center; Department of Health and Social Care; NorthShore University HealthSystem; Universitair Ziekenhuis Gent; Ovarian Cancer Australia; Faculty of Medicine, McGill University; Peter MacCallum Foundation; Helsingin ja Uudenmaan Sairaanhoitopiiri; Istituto Oncologico Veneto; Institut National Du Cancer; Kreftforeningen; Memorial Sloan-Kettering Cancer Center; Universität Innsbruck; Wellcome Trust; Ministry of Education, Culture, Sports, Science and Technology; Beckman Research Institute, City of Hope; Lon V. Smith Foundation; Rutgers Cancer Institute of New Jersey; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Fundación Mutua Madrileña; National Heart, Lung, and Blood Institute; Universiteit Leiden; Ohio State University; Korea Health Industry Development Institute; Vanderbilt University; State of Connecticut Department of Public Health; University of Chicago; Israel Cancer Association; Dr. Ralph and Marian Falk Medical Research Trust; Vanderbilt-Ingram Cancer Center; Japan Agency for Medical Research and Development; Conselho Nacional de Desenvolvimento Científico e Tecnológico; Breast Cancer Research Foundation; Dana-Farber Cancer Institute; Universiteit Gent; National Breast Cancer Foundation; Health Canada; Novocure; European Social Fund; Medical Research Council; Mayo Foundation for Medical Education and Research; University of Pennsylvania; Deutsches Krebsforschungszentrum; Cancer Research Society; Ministério da Ciência, Tecnologia e Inovação; Umeå Universitet; Moffitt Cancer Center; Minnesota Ovarian Cancer Alliance; Radboud Universitair Medisch Centrum; University of Pretoria; Cancer Research UK; NordForsk; U.S. Department of Defense; Leids Universitair Medisch Centrum; Oak Foundation; Peter MacCallum Cancer Centre; Fisher Center for Alzheimer's Research Foundation; Erasmus Medisch Centrum; Ministerio de Economía y Competitividad; National Center for Advancing Translational Sciences; Bundesministerium für Bildung und Forschung; Japan Society for the Promotion of Science; Ovarian Cancer Research Fund; Sahlgrenska Universitetssjukhuset; Royal Marsden NHS Foundation Trust; Instituto de Salud Carlos III; Lee Foundation; Oregon Health and Science University; Universiteit Maastricht; University of Pittsburgh; Všeobecná Fakultní Nemocnice v Praze; Kansas Bioscience Authority; Syöpäsäätiö; Fundação de Amparo à Pesquisa do Estado de São Paulo; AstraZeneca; Beth Israel Deaconess Medical Center; Susan G. Komen for the Cure; National Cancer Centre of Singapore; Georgetown University","keywords":"Ovarian cancer; Genome-wide association study; Odds ratio; Serous fluid; SNP; Biobank; Serous ovarian cancer","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006848948,0.0002358872,0.0004494587,0.0001394757,0.0001054755,0.00001064422,0.0003058955,0.0002109061,0.000163472],"category_scores_gemma":[0.0004001722,0.0002065671,0.00003597212,0.0004273294,0.00008650303,0.000004593448,0.0001005627,0.000172775,0.000003622441],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001468218,"about_ca_system_score_gemma":0.0006179795,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006832704,"about_ca_topic_score_gemma":0.001269388,"domain_scores_codex":[0.9981498,0.0001788931,0.0004800721,0.0004816791,0.0003231825,0.0003863841],"domain_scores_gemma":[0.9986112,0.000099244,0.0004162147,0.0004841528,0.0003023661,0.00008685221],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005115487,0.0008914821,0.5172998,0.0001091077,0.004914796,0.00001487696,0.01049231,0.005731993,0.4392217,0.00003325911,0.01878994,0.00198925],"study_design_scores_gemma":[0.01067062,0.001998557,0.9483907,0.0001082711,0.0005136712,0.000001596883,0.005901304,0.00003918867,0.01259904,0.0002657162,0.01905006,0.0004612635],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9949659,0.0008241324,0.0003167788,0.002022767,0.0003642723,0.0006649966,0.00005382136,0.0000230275,0.0007643383],"genre_scores_gemma":[0.9911625,0.0001600277,0.0001020978,0.00112495,0.0002948493,0.0002244613,0.0002164032,0.00003667615,0.006678078],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4310909,"threshold_uncertainty_score":0.8423562,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009223503641967109,"score_gpt":0.2616828768868359,"score_spread":0.2524593732448688,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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