{"id":"W4403456234","doi":"10.1093/jnci/djae255","title":"Polygenic risk scores stratify breast cancer risk among women with benign breast disease","year":2024,"lang":"en","type":"article","venue":"JNCI Journal of the National Cancer Institute","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; Queen's University","funders":"Division of Cancer Epidemiology and Genetics, National Cancer Institute; National Cancer Institute; NIHR Cambridge Biomedical Research Centre; Breast Cancer Campaign; Canadian Institutes of Health Research; Institut National Du Cancer; Deutsche Krebshilfe; Agence Nationale de la Recherche; Agence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du Travail; Department of Health and Social Care; National Institute for Health and Care Research; Division of Cancer Prevention, National Cancer Institute; National Institutes of Health; Hamburger Krebsgesellschaft; Fondation de France; Deutsches Krebsforschungszentrum; Ligue Contre le Cancer; Bundesministerium für Bildung und Forschung; Genome Canada; U.S. Department of Health and Human Services; Ovarian Cancer Research Fund; National Institute on Handicapped Research; European Commission; Breast Cancer Research Foundation; Cancer Research UK; Government of Canada","keywords":"Medicine; Breast cancer; Breast disease; Odds ratio; Atypical hyperplasia; Case-control study; Internal medicine; Risk factor; Logistic regression; Obstetrics; Gynecology; Hyperplasia; Cancer","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":[0.002149347,0.0003796869,0.0003882091,0.001288907,0.0003182392,0.0006616565,0.000307134,0.000482687,0.001133338],"category_scores_gemma":[0.005211887,0.0002449912,0.00101886,0.001135567,0.0004289488,0.0003024185,0.000490866,0.0004533358,0.00009267636],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002550753,"about_ca_system_score_gemma":0.0003242429,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004938259,"about_ca_topic_score_gemma":0.00666541,"domain_scores_codex":[0.9986349,0.0006804537,0.0001010056,0.00029022,0.0001617183,0.0001318456],"domain_scores_gemma":[0.9956874,0.001790717,0.00152679,0.0005286045,0.0002255672,0.0002409739],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000107648,0.000009848979,0.9964474,0.00001464457,0.0006097344,0.00005442218,0.0000357586,0.0001823444,0.0002862935,0.00008027796,0.00007659899,0.00209495],"study_design_scores_gemma":[0.00000781237,0.00006623014,0.9979343,0.00001310631,0.0003552068,0.000192666,0.00002762577,0.0008150834,0.00006854444,0.0003453328,0.0001690778,0.000004974082],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9949968,0.002170567,0.001622833,0.0001598837,0.00001544835,0.00002121887,0.0004033593,0.00001876069,0.0005911562],"genre_scores_gemma":[0.9991335,0.0002072983,0.0003532922,0.00002053954,0.00001281129,0.000006384109,0.0002069295,0.000002062513,0.00005701279],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004938259,"threshold_uncertainty_score":0.01136696,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01073708907633274,"score_gpt":0.2848430356868137,"score_spread":0.274105946610481,"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."}}