{"id":"W2551114644","doi":"10.1186/s13058-016-0768-3","title":"Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women","year":2016,"lang":"en","type":"article","venue":"Breast Cancer Research","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":73,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Université Laval; University of Toronto; Centre hospitalier universitaire de Québec; Hôpital du Saint-Sacrement; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital","funders":"National Cancer Institute; National Center for Advancing Translational Sciences; Medical Research Council; lékařská fakulta Univerzity Karlovy; Liga Portuguesa Contra o Cancro; National Health and Medical Research Council; Institut National Du Cancer; NIH Office of the Director; Deutsche Krebshilfe; Jewish General Hospital; Università degli Studi di Torino; Università degli Studi di Firenze; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; European Regional Development Fund; National Breast Cancer Foundation; Canadian Breast Cancer Research Alliance; Memorial Sloan-Kettering Cancer Center; NRG Oncology; University of Pennsylvania; Ministère du Développement Économique, de l’Innovation et de l’Exportation; National Institutes of Health; David F. and Margaret T. Grohne Family Foundation; McGill University; University of California, San Francisco; Ministero della Salute; Cancer Association of South Africa; Susan G. Komen for the Cure; Beth Israel Deaconess Medical Center; Univerzita Karlova v Praze; Cancer Research UK; Ministero dello Sviluppo Economico; American Cancer Society; Stop Cancer; Cancer Australia; Ovarian Cancer Research Fund; Istituto Oncologico Veneto; Lietuvos Mokslo Taryba; Canadian Institutes of Health Research; Fundación Mutua Madrileña; Breast Cancer Research Foundation","keywords":"Loss of heterozygosity; Mutation; Medicine; Internal medicine; Breast cancer; Heterozygote advantage; Cancer; Oncology; Gastroenterology; Genetics; Biology; Gene; Allele","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":[0.000362612,0.00007709371,0.0001156017,0.0001290452,0.00004042007,0.00001038221,0.0002498619,0.00007096576,0.0002227418],"category_scores_gemma":[0.00009206416,0.00006664053,0.00002108386,0.000175113,0.0003430426,0.00001553128,0.0001819362,0.00006006296,0.000001453565],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003853792,"about_ca_system_score_gemma":0.0003581155,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006933524,"about_ca_topic_score_gemma":0.002053,"domain_scores_codex":[0.9988646,0.00009867314,0.0002163874,0.0002997024,0.0002711335,0.0002495403],"domain_scores_gemma":[0.999203,0.00005477996,0.00006579016,0.0002808064,0.00032398,0.00007167889],"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":[0.000415159,0.00007536844,0.1456591,0.00003218235,0.00004544825,0.000001509515,0.0006595987,0.00004591607,0.8039289,0.00007479374,0.0002167628,0.04884524],"study_design_scores_gemma":[0.002509379,0.000390741,0.7511695,0.0001458656,0.000005239231,0.00004744099,0.0006170914,0.00006462663,0.2327954,0.000887527,0.01111642,0.0002507662],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997749,0.00038143,0.0001510246,0.0006006696,0.00007873301,0.0001492633,0.0007341252,0.000003089699,0.0001527059],"genre_scores_gemma":[0.9984106,0.0005591263,0.0004565275,0.00002880177,0.0001131767,0.0001845608,0.00002641825,0.00001759244,0.0002031314],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6055104,"threshold_uncertainty_score":0.2717522,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03477107235154101,"score_gpt":0.3714260942423899,"score_spread":0.3366550218908488,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}