{"id":"W4405870529","doi":"10.1186/s13058-024-01947-x","title":"Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction","year":2024,"lang":"en","type":"article","venue":"Breast Cancer Research","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; Centre hospitalier universitaire de Québec; BC Cancer Agency; Queen's University; Université Laval; Université de Montréal; Mount Sinai Hospital; Lunenfeld-Tanenbaum Research Institute; University of Toronto","funders":"National Cancer Institute; Cancer Council Victoria; Medical Research Council; Vanderbilt-Ingram Cancer Center; University of Melbourne; Universität zu Köln; Monash University; National Institutes of Health; Universiteit Leiden; Leids Universitair Medisch Centrum; School of Medicine, Vanderbilt University; Cedars-Sinai Medical Center; Vanderbilt University; King's College London; Universitätsklinikum Köln","keywords":"Breast cancer; Surgical oncology; Polygenic risk score; Medicine; Oncology; Demography; Internal medicine; Cancer; Biology; Genetics; Single-nucleotide polymorphism; Gene; Genotype","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007592515,0.0002065985,0.0001416558,0.00008530424,0.0007755716,0.0002603531,0.0003970376,0.0001495743,0.00009179801],"category_scores_gemma":[0.00005911056,0.0001934633,0.0001381029,0.0006623789,0.0003000782,0.00003247047,0.0001818015,0.0003380154,0.00001853313],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005730099,"about_ca_system_score_gemma":0.0008367952,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001184916,"about_ca_topic_score_gemma":0.001267443,"domain_scores_codex":[0.9976835,0.0002302332,0.0003308209,0.0008054693,0.0003199996,0.0006299352],"domain_scores_gemma":[0.9985595,0.0000461666,0.00007988398,0.000517933,0.0006441429,0.0001523915],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003918549,0.0001409097,0.464059,0.0002713879,0.0003484203,0.000001749528,0.0003132415,0.0009029064,0.0553358,0.0008783069,0.04276347,0.434593],"study_design_scores_gemma":[0.000354367,0.00006213081,0.9840074,0.0001640392,0.00004922982,0.00007473342,0.0001512019,0.0006402416,0.001058632,0.0006491457,0.01257057,0.0002182647],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8818585,0.01036987,0.007537575,0.005877109,0.0009634909,0.0008957208,0.0922654,0.0001065815,0.0001257035],"genre_scores_gemma":[0.9902802,0.003181291,0.0001110328,0.00003911371,0.002324827,0.001804022,0.001584768,0.0000662516,0.0006084886],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5199484,"threshold_uncertainty_score":0.7889203,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.104838416644433,"score_gpt":0.434668324502241,"score_spread":0.329829907857808,"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."}}