{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001986054,0.0001543293,0.0001309603,0.00002599778,0.0001418902,0.0003091795,0.00049465,0.0001405577,0.00009489168],"category_scores_gemma":[0.00009351012,0.0001552003,0.00006656667,0.0002752112,0.00005404292,0.00001478699,0.000350337,0.00009576966,0.00001560412],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001158425,"about_ca_system_score_gemma":0.0008799313,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002953616,"about_ca_topic_score_gemma":0.0006196589,"domain_scores_codex":[0.9989013,0.0000508388,0.0001737607,0.0004743929,0.00008155559,0.0003181583],"domain_scores_gemma":[0.9992715,0.0001611818,0.00005625686,0.0002844938,0.000149744,0.00007687777],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003506014,0.00004575884,0.03164435,0.0001497797,0.0005682469,0.00006651341,0.0002832124,0.07531188,0.02834916,0.0004701667,0.6093473,0.2534131],"study_design_scores_gemma":[0.004883824,0.0007693494,0.1723143,0.00134187,0.0004178711,0.0002284239,0.0005162612,0.01895424,0.0130866,0.00270829,0.7831948,0.001584196],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9401966,0.02046799,0.01281831,0.008797735,0.003601968,0.003402291,0.0009500281,0.0001286754,0.009636397],"genre_scores_gemma":[0.969229,0.0005078282,0.02145788,0.00139062,0.004302612,0.0006279476,0.000171001,0.00008311158,0.002229966],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2518288,"threshold_uncertainty_score":0.6328886,"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."}}