{"id":"W2139515538","doi":"10.1158/2159-8290.cd-12-0421","title":"Biallelic Deleterious <i>BRCA1</i> Mutations in a Woman with Early-Onset Ovarian Cancer","year":2012,"lang":"en","type":"article","venue":"Cancer Discovery","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":147,"is_retracted":false,"has_abstract":true,"ca_institutions":"Jewish General Hospital; McGill University Health Centre","funders":"National Cancer Institute; Myriad Genetics; University of Pennsylvania","keywords":"Ovarian cancer; Mutation; Cancer; Genetics; Biology; Cancer research; Medicine; Gene","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001458487,0.0005844115,0.0003218892,0.0009336718,0.001225539,0.0004118047,0.0003498007,0.001319757,0.001612683],"category_scores_gemma":[0.0009197706,0.0002872953,0.0001838824,0.0004941277,0.0005561241,0.000307896,0.0004722029,0.001007993,0.0003879579],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003995687,"about_ca_system_score_gemma":0.0003852794,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003345537,"about_ca_topic_score_gemma":0.003935559,"domain_scores_codex":[0.9998345,0.00002212916,0.00001412748,0.00005424218,0.00002510348,0.00004968138],"domain_scores_gemma":[0.9996345,0.0001021565,0.00008581687,0.00001406621,0.00002616997,0.000137236],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.000124242,0.0001411922,0.1140323,0.00003139506,0.00001102777,0.8725769,0.001089302,0.0001416278,0.004245395,0.0002110296,0.001693142,0.005702385],"study_design_scores_gemma":[0.000008926091,0.0002568284,0.07267359,0.0000233269,0.00002305726,0.9231866,0.0004977333,0.0003761821,0.001058557,0.0001938309,0.001677933,0.00002339802],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9928988,0.000771318,0.0004731542,0.001646758,0.00006678414,0.00003807965,0.0001628115,0.00005558354,0.003886701],"genre_scores_gemma":[0.9973731,0.000329594,0.0004242507,0.0006340428,0.00008389572,0.000007278431,0.00005321255,0.00001575225,0.001078713],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003345537,"threshold_uncertainty_score":0.006652176,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01315828743287764,"score_gpt":0.2747877678812371,"score_spread":0.2616294804483595,"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."}}