{"id":"W3042361004","doi":"10.1038/s41436-020-0862-x","title":"Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants","year":2020,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":145,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; McGill University; Centre hospitalier universitaire de Québec; Mount Sinai Hospital; Lunenfeld-Tanenbaum Research Institute; University Health Network; University of Toronto","funders":"National Center for Advancing Translational Sciences; Cancer Research UK; National Cancer Institute; Agence Nationale de la Recherche; National Institute of General Medical Sciences; Wellcome Trust","keywords":"Breast cancer; Polygenic risk score; Ovarian cancer; Oncology; Medicine; Epithelial ovarian cancer; Internal medicine; Biology; Gynecology; Cancer; Genetics; Gene; Genotype; Single-nucleotide polymorphism","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":[0.0006901214,0.0003180314,0.0001740386,0.0007973937,0.000258743,0.0003540709,0.0002070497,0.0003965593,0.001940972],"category_scores_gemma":[0.003222127,0.0001562211,0.0003343713,0.000654058,0.0002730531,0.0001786676,0.0003242049,0.0004032284,0.0001600741],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001146405,"about_ca_system_score_gemma":0.000126966,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002385972,"about_ca_topic_score_gemma":0.002008658,"domain_scores_codex":[0.9995916,0.0001405905,0.0000381596,0.0001104842,0.00006885557,0.00005029522],"domain_scores_gemma":[0.9985159,0.0004004433,0.0006849716,0.0001612684,0.00007559911,0.0001618571],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00009762907,0.00001282478,0.9984017,0.000002383595,0.00008034111,0.00004444607,0.00002147678,0.00006632021,0.00041293,0.00002453179,0.00002956154,0.0008058847],"study_design_scores_gemma":[0.000005144724,0.0000679538,0.9988936,0.00000176347,0.00003469867,0.0003712086,0.00002490828,0.0003596843,0.0001159603,0.00004473176,0.00007848857,0.000001958984],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993836,0.00007801144,0.0001779798,0.00002037961,0.00000206138,0.00000245179,0.000190814,0.000003139292,0.000141567],"genre_scores_gemma":[0.9996073,0.00002450864,0.0001082223,0.000006254937,0.000003607211,0.000002190546,0.0001628289,0.000001100391,0.00008402794],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002385972,"threshold_uncertainty_score":0.006493151,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02429271544521201,"score_gpt":0.3058790088692933,"score_spread":0.2815862934240813,"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."}}