{"id":"W4321613175","doi":"10.1016/j.ajhg.2023.02.003","title":"The impact of coding germline variants on contralateral breast cancer risk and survival","year":2023,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":27,"is_retracted":false,"has_abstract":false,"ca_institutions":"University Health Network; Lunenfeld-Tanenbaum Research Institute; University of Toronto; Mount Sinai Hospital","funders":"U.S. Army Medical Research Acquisition Activity; Medical Research and Materiel Command; Servicio Gallego de Salud; European Regional Development Fund; Helse Sør-Øst RHF; Instituto de Salud Carlos III; Cancer Council Tasmania; Cancer Council Victoria; National Health and Medical Research Council; Medical Research Council; Programme Grants for Applied Research; Manchester Biomedical Research Centre; U.S. Army; Huntsman Cancer Institute; Freistaat Sachsen; Xunta de Galicia; Syöpäsäätiö; Agence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du Travail; Institut National Du Cancer; Ministerstwo Edukacji i Nauki; Deutsche Krebshilfe; University of Crete; Stockholms Läns Landsting; Associazione Italiana per la Ricerca sul Cancro; HORIZON EUROPE Framework Programme; Kuopion Yliopistollinen Sairaala; Karolinska Institutet; University of Cambridge; Ministerio de Sanidad, Servicios Sociales e Igualdad; National Institutes of Health; Gentofte Hospital; Deutsche Gesetzliche Unfallversicherung; Norges Forskningsråd; Division of Cancer Prevention, National Cancer Institute; National Institute for Health and Care Research; National Cancer Institute; Cancer Institute NSW; Cancerfonden; Huntsman Cancer Foundation; Robert Bosch Stiftung; Bundesministerium für Bildung und Forschung; National Breast Cancer Foundation; KWF Kankerbestrijding; Wellcome Trust; Cancer Research UK; Kreftforeningen; Agence Nationale de la Recherche; Deutsches Krebsforschungszentrum; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; University of Utah; Fondation de France; Sundhed og Sygdom, Det Frie Forskningsråd; Itä-Suomen Yliopisto; Cancer Council NSW; Susan G. Komen for the Cure; Agency for Science, Technology and Research; Cancer Council South Australia; Consellería de Economía, Emprego e Industria, Xunta de Galicia; Bundesministerium für Bildung, Wissenschaft, Forschung und Technologie; U.S. Department of Health and Human Services","keywords":"CHEK2; PALB2; Breast cancer; Oncology; Internal medicine; Germline; Medicine; Hazard ratio; Confidence interval; Germline mutation; Cancer; Genetics; Biology; Gene; Mutation","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006967557,0.0004223444,0.0004943565,0.0006846162,0.0003458028,0.0008803126,0.0004853096,0.0008512237,0.005960947],"category_scores_gemma":[0.003892125,0.0002541237,0.001388273,0.0007106396,0.0004019212,0.000502341,0.0004748667,0.0009517695,0.0005132596],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000276517,"about_ca_system_score_gemma":0.0004285068,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005934213,"about_ca_topic_score_gemma":0.005310873,"domain_scores_codex":[0.9994443,0.0001616021,0.00003642838,0.000125909,0.00007659906,0.0001551078],"domain_scores_gemma":[0.9974415,0.001123126,0.000421404,0.0002844314,0.0001452071,0.0005843288],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002875227,0.00009214028,0.981167,0.00002320009,0.0006231715,0.0007190625,0.00004646387,0.0004121939,0.003458552,0.0001957115,0.0003787217,0.01000861],"study_design_scores_gemma":[0.00002677931,0.000224217,0.9968957,0.000006402197,0.0003457292,0.0009920738,0.00007089112,0.0005789743,0.0002927287,0.0002612914,0.000295287,0.000009885796],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9935538,0.001943945,0.0002702791,0.0004011019,0.00006600901,0.000002678854,0.0006784389,0.00002927007,0.003054615],"genre_scores_gemma":[0.9986081,0.0002661451,0.00004667,0.00005158878,0.00005315009,0.000001518488,0.0002314818,0.00001129992,0.0007301391],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005960947,"threshold_uncertainty_score":0.01994133,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01388614835495411,"score_gpt":0.3259737256012791,"score_spread":0.312087577246325,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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