{"id":"W2789006266","doi":"10.1002/humu.23406","title":"Mutational spectrum in a worldwide study of 29,700 families with<i>BRCA1</i>or<i>BRCA2</i>mutations","year":2018,"lang":"en","type":"article","venue":"Human Mutation","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":314,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Université Laval; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital; Centre hospitalier universitaire de Québec; Hôpital du Saint-Sacrement; University of Toronto","funders":"Jonsson Comprehensive Cancer Center; National Center for Advancing Translational Sciences; Instituto de Salud Carlos III; Canadian Institutes of Health Research; lékařská fakulta Univerzity Karlovy; National Institutes of Health; Centro de Investigación Biomédica en Red de Cáncer; Fox Chase Cancer Center; Ministero dello Sviluppo Economico; Medical Research Council; Uppsala Universitet; Hospices Civils de Lyon; Radboud Universitair Medisch Centrum; Sahlgrenska Universitetssjukhuset; Institut National Du Cancer; Leids Universitair Medisch Centrum; Associazione Italiana per la Ricerca sul Cancro; Financiadora de Estudos e Projetos; KWF Kankerbestrijding; Lietuvos Mokslo Taryba; Linköpings Universitet; Hungarian Scientific Research Fund; Lunds Universitet; Pontificia Universidad Javeriana; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Ministero della Salute; Institut Català de la Salut; Institut Gustave-Roussy; University of Pennsylvania; Consejo Nacional de Investigaciones Científicas y Técnicas; Norway Grants; Generalitat de Catalunya; Erasmus Medisch Centrum; Vrije Universiteit Amsterdam; Fundación Mutua Madrileña; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Radboud Universiteit; National Medical Research Council; Maastricht Universitair Medisch Centrum; Universiteit Leiden; Cancer Association of South Africa; Ministerstvo Školství, Mládeže a Tělovýchovy; National Breast Cancer Foundation; Nemzeti Kutatási Fejlesztési és Innovációs Hivatal; National Institute for Health and Care Research; Canadian Breast Cancer Research Alliance; Centre Léon Bérard; Government of Canada; National Cancer Institute; Liga Portuguesa Contra o Cancro; Hospital de Câncer de Barretos; Fundação de Amparo à Pesquisa do Estado de São Paulo; European Commission; NorthShore University HealthSystem; Cancer Research UK; Memorial Sloan-Kettering Cancer Center; Fondation du cancer du sein du Québec; Wellcome Trust; David F. and Margaret T. Grohne Family Foundation; McGill University; Breast Cancer Research Foundation; Univerzita Karlova v Praze; Unicancer; Deutsches Krebsforschungszentrum; Cancer Center, University of Kansas; Cancerfonden; Istituto Oncologico Veneto; Umeå Universitet; Royal Marsden NHS Foundation Trust; Deutsche Krebshilfe; Lee Foundation; Genome Canada; Rijksuniversiteit Groningen; University of California, San Francisco; Creighton University; NRG Oncology; Dr. Ralph and Marian Falk Medical Research Trust; Kansas Bioscience Authority; National Health and Medical Research Council; Jewish General Hospital; Fisher Center for Alzheimer's Research Foundation; Fundación Cellex; European Regional Development Fund; Jess and Mildred Fisher Center for Familial Cancer Research; Istituto Pasteur-Fondazione Cenci Bolognetti; Cancer Australia; Landspítali Háskólasjúkrahús; Ministerio de Economía y Competitividad; Ovarian Cancer Research Fund; Universiteit Maastricht; European Social Fund; University of Chicago; Susan G. Komen for the Cure; Georgetown University; Fonds Wetenschappelijk Onderzoek; American Cancer Society","keywords":"Founder effect; Genetics; Biology; Genotyping; Mutation; Germline mutation; Allele frequency; Population; Germline; Evolutionary biology; Allele; Genotype; Haplotype; Gene; Demography","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":[0.000209027,0.0001987522,0.000192405,0.0003011949,0.0001795097,0.00003291687,0.0001906965,0.00008414051,0.0001505967],"category_scores_gemma":[0.00006824894,0.00018543,0.00004155799,0.0005570413,0.0002749083,0.00002144316,0.0000503971,0.0001050535,0.00001891624],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000976484,"about_ca_system_score_gemma":0.0002909832,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001909055,"about_ca_topic_score_gemma":0.019216,"domain_scores_codex":[0.9984038,0.0001172226,0.0004685889,0.0004628604,0.000311806,0.0002357215],"domain_scores_gemma":[0.9990816,0.00003910176,0.0002213907,0.0003566151,0.0002539429,0.00004731547],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.006019709,0.009111385,0.2880356,0.0004028094,0.001982998,0.0003574392,0.1020819,0.07358716,0.4799401,0.006686519,0.007614945,0.02417934],"study_design_scores_gemma":[0.01352416,0.01117782,0.7152506,0.000155614,0.0002598675,0.0001789039,0.03461086,0.001045457,0.2137945,0.005421201,0.00326776,0.001313356],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950247,0.00005916757,0.001790237,0.0001236622,0.0001181544,0.0006107901,0.00002047855,0.0000230772,0.002229729],"genre_scores_gemma":[0.996794,0.000004863568,0.001643297,0.0001123805,0.0002550745,0.0001847446,0.0002799879,0.0000391166,0.0006865175],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4272149,"threshold_uncertainty_score":0.9986808,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01771490151778242,"score_gpt":0.2984924882005481,"score_spread":0.2807775866827657,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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