{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004580428,0.00034442,0.0002424013,0.0009591765,0.0006914786,0.0005046454,0.0003457781,0.0003596488,0.00170149],"category_scores_gemma":[0.001561395,0.000414801,0.000214815,0.0009255044,0.0003974173,0.0003237178,0.0005179708,0.0003348837,0.0004156877],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002434505,"about_ca_system_score_gemma":0.0002167397,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01163512,"about_ca_topic_score_gemma":0.01000331,"domain_scores_codex":[0.9996036,0.00006807199,0.00004506081,0.0001364455,0.00008031671,0.00006663164],"domain_scores_gemma":[0.9993815,0.0001075064,0.0002414397,0.0000752046,0.00005888264,0.0001353403],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00006320435,0.00003007441,0.9978535,0.00000792852,0.00001968414,0.0003219946,0.000353116,0.0000144184,0.000371588,0.000008993999,0.00009631587,0.0008589994],"study_design_scores_gemma":[0.000009035329,0.00009062224,0.9978369,0.000005048293,0.0000215384,0.001155855,0.0005072205,0.00006347725,0.00009311119,0.000007909252,0.0002061861,0.000003100423],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994216,0.00006745747,0.000041448,0.00001152546,0.000001770308,0.000009632423,0.0002449563,0.000001490104,0.0002001993],"genre_scores_gemma":[0.9991811,0.00009429277,0.00005389663,0.00002683766,0.00000512023,0.00001369362,0.0004433469,0.000001594147,0.0001801336],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01163512,"threshold_uncertainty_score":0.02313483,"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."}}