{"id":"W3091099371","doi":"10.1016/j.ajhg.2020.09.001","title":"Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk","year":2020,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":69,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia; University of Toronto; University Health Network; Queen's University; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital","funders":"National Institute of Environmental Health Sciences; Leids Universitair Medisch Centrum; Medical Research Council; Cancer Institute NSW; Canadian Institutes of Health Research; Imperial Experimental Cancer Medicine Centre; National Cancer Institute; Wellcome Trust; Cancer Research UK; KWF Kankerbestrijding; National Breast Cancer Foundation; National Health and Medical Research Council; Government of Canada; European Commission; Breast Cancer Research Foundation; Instituto de Salud Carlos III; Amgen; Ovarian Cancer Research Fund; Cancer Council Western Australia; Pfizer; National Institute for Health and Care Research; Genome Canada; Fondation du cancer du sein du Québec; National Institutes of Health","keywords":"Breast cancer; Polygenic risk score; Medicine; Oncology; Cancer; Risk assessment; Internal medicine; Biology; Single-nucleotide polymorphism; Genetics; Gene; Genotype; Computer science","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":[0.0005591548,0.0003345502,0.0002702515,0.001261952,0.0003562214,0.0006047644,0.0002963781,0.0005671784,0.007512138],"category_scores_gemma":[0.003099253,0.0001780773,0.0007037622,0.0008756295,0.0002661465,0.0002745602,0.000506948,0.0006560592,0.0005792116],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002268123,"about_ca_system_score_gemma":0.0003783703,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00628507,"about_ca_topic_score_gemma":0.005022253,"domain_scores_codex":[0.9995759,0.0001844616,0.00002442181,0.00007308904,0.00006582089,0.00007637993],"domain_scores_gemma":[0.9978645,0.0006624014,0.000472166,0.0002517513,0.0001493578,0.0005997472],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005491349,0.00006335255,0.9932902,0.000009882458,0.0002156981,0.0003315706,0.00004319725,0.0003348724,0.00148844,0.000233918,0.0002283742,0.003211178],"study_design_scores_gemma":[0.00001008664,0.00009369405,0.996102,0.000003390687,0.0001144237,0.001250658,0.000051126,0.001694935,0.0001746235,0.000261987,0.0002361886,0.000006910579],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957314,0.0003655474,0.0006071359,0.0001913578,0.00002350583,0.000005287217,0.0004981373,0.00004793402,0.002529731],"genre_scores_gemma":[0.9987125,0.00005488606,0.0001070794,0.000013666,0.00001590367,0.000002848561,0.0001736771,0.000005305925,0.0009141376],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007512138,"threshold_uncertainty_score":0.02513063,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01052173643970201,"score_gpt":0.2727227292696888,"score_spread":0.2622009928299868,"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."}}