{"id":"W4414662508","doi":"10.1038/s41523-025-00820-0","title":"Polygenic risk score for breast cancer risk prediction in Asian BRCA1 and BRCA2 pathogenic variants carriers","year":2025,"lang":"en","type":"article","venue":"npj Breast Cancer","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval","funders":"National Cancer Institute; NIHR Cambridge Biomedical Research Centre; Department of Health and Social Care; Medical Research Council; Universiti Malaya; Breast Cancer Research Foundation; National Research Foundation Singapore; Universiti Kebangsaan Malaysia; National Medical Research Council; National Research Foundation; Wellcome Trust; Cancer Research UK; Universiti Sains Malaysia; Government of Canada; AstraZeneca; Yayasan Sime Darby; Canadian Institutes of Health Research; Gray Foundation; National Institutes of Health; Kementerian Kesihatan Malaysia; Hospital Universiti Sains Malaysia; National Institute for Health and Care Research; Genome Canada; Fondation du cancer du sein du Québec; Ovarian Cancer Research Fund","keywords":"Polygenic risk score; Breast cancer; Confidence interval; Risk assessment; Population; Cancer; Lifetime risk; Risk factors for breast 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":[0.002978568,0.0006422789,0.0003693503,0.001455867,0.0002371756,0.0006075818,0.0004260805,0.000320591,0.001401292],"category_scores_gemma":[0.007447456,0.000161458,0.001150824,0.001174732,0.0002704046,0.0003517257,0.0006860469,0.000594881,0.0002324711],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002605094,"about_ca_system_score_gemma":0.0003355713,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004471355,"about_ca_topic_score_gemma":0.003521944,"domain_scores_codex":[0.998975,0.000572752,0.00008467781,0.0001732925,0.0001318897,0.00006234884],"domain_scores_gemma":[0.9966857,0.001666805,0.0008563923,0.0003239761,0.000233585,0.0002335547],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005576519,0.0000483412,0.9845077,0.00002002013,0.0005113242,0.0001257025,0.00009113259,0.001735303,0.0007293114,0.0001389798,0.0001996934,0.01133468],"study_design_scores_gemma":[0.00005665873,0.0005902242,0.9645342,0.00001954212,0.0006549552,0.0008497518,0.0001714938,0.03099058,0.0008657954,0.0006621405,0.0005750794,0.00002968638],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9956719,0.0002199641,0.002976415,0.00007221724,0.00001001838,0.0000183228,0.000418079,0.00003730626,0.0005758788],"genre_scores_gemma":[0.997675,0.00006795017,0.001706598,0.00001369777,0.000008716254,0.000009487771,0.0003678574,0.000007211868,0.0001436007],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004471355,"threshold_uncertainty_score":0.01575232,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005676353202433707,"score_gpt":0.2574515463959195,"score_spread":0.2517751931934858,"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."}}