{"id":"W4402188895","doi":"10.1001/jamanetworkopen.2024.31427","title":"Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer","year":2024,"lang":"en","type":"article","venue":"JAMA Network Open","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; St Mary's Hospital Centre; Jewish General Hospital; McGill University Health Centre","funders":"Fondation de l'Hôpital général juif; Jewish General Hospital; AstraZeneca; Fondation du cancer du sein du Québec; Bristol-Myers Squibb","keywords":"PALB2; Medicine; Breast cancer; CHEK2; Genetic testing; Genetic counseling; Family history; Cancer; Referral; Internal medicine; Cohort; Oncology; Gynecology; Family medicine; Germline mutation; Mutation; Genetics","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0004925909,0.0001813012,0.0001653914,0.0006316755,0.0003265737,0.0002422252,0.0003997878,0.0002491204,0.002536258],"category_scores_gemma":[0.002073247,0.0001284182,0.00009840127,0.0007560415,0.0003000897,0.0002402891,0.0003182376,0.000249727,0.0001956831],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006312807,"about_ca_system_score_gemma":0.0008697017,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0332477,"about_ca_topic_score_gemma":0.06131371,"domain_scores_codex":[0.9995654,0.00009147053,0.00004161835,0.00008083879,0.0001218573,0.00009878624],"domain_scores_gemma":[0.9989949,0.0001702384,0.0004402621,0.00003840676,0.000125702,0.0002304698],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00002145352,0.00001459884,0.9954052,0.00001860017,0.000005268741,0.0003229304,0.00006744445,0.00002391279,0.0002355136,0.00001457529,0.0003698941,0.003500654],"study_design_scores_gemma":[0.000005733622,0.00007948418,0.9967289,0.0000390571,0.00001010796,0.001707342,0.0001760273,0.0001463049,0.000156574,0.00002311966,0.00092413,0.000003254298],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961731,0.0007818938,0.0001376373,0.0002720217,0.00001788487,0.00005362333,0.0007645866,0.00001904369,0.001780264],"genre_scores_gemma":[0.9984011,0.0003524138,0.0002579549,0.0001330373,0.00002023087,0.00001593928,0.0003768797,0.000002050315,0.000440425],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0332477,"threshold_uncertainty_score":0.06610835,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02227686874651465,"score_gpt":0.2956384142604294,"score_spread":0.2733615455139147,"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."}}