{"id":"W2056781336","doi":"10.1136/jmg.2006.043091","title":"Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening","year":2006,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":117,"is_retracted":false,"has_abstract":true,"ca_institutions":"Christie (Canada)","funders":"Breast Cancer Research Trust; National Institute for Health and Care Research","keywords":"Phenocopy; Breast cancer; Proband; Family history; Genetic testing; Cancer; Genetics; Population; Medicine; Genetic counseling; Oncology; Mutation; Incidence (geometry); Internal medicine; Biology; Gene; Phenotype","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":[0.00246707,0.000360197,0.0003056335,0.002360123,0.0003896733,0.000597697,0.0005744902,0.0007307286,0.002423653],"category_scores_gemma":[0.01640591,0.0002432581,0.0004323394,0.001347966,0.001750074,0.0006043533,0.0006770855,0.0005309003,0.0001448026],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002569528,"about_ca_system_score_gemma":0.0004784742,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00272322,"about_ca_topic_score_gemma":0.001693606,"domain_scores_codex":[0.9981759,0.0006884056,0.0001546351,0.0003760833,0.0004469385,0.0001579989],"domain_scores_gemma":[0.9846342,0.008235863,0.005043384,0.0006606994,0.0006182339,0.000807622],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001779312,0.00001612038,0.9925576,0.00006297514,0.00008251513,0.001764781,0.0001221642,0.00008580248,0.0003585822,0.0001042963,0.0001205582,0.00454663],"study_design_scores_gemma":[0.00001790305,0.0001193535,0.986339,0.00005673203,0.000155411,0.01207218,0.0002195906,0.0002579744,0.0001926847,0.0002837917,0.0002778576,0.000007478098],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933197,0.004785278,0.0002875395,0.0004268354,0.00001989642,0.00001037374,0.0001075076,0.00001452833,0.001028245],"genre_scores_gemma":[0.9988376,0.0008079534,0.0001796269,0.00004094977,0.00003039863,0.000002823118,0.00005182464,0.000003337692,0.0000454398],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00272322,"threshold_uncertainty_score":0.01304728,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05031441344656014,"score_gpt":0.3627895955297988,"score_spread":0.3124751820832387,"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."}}