{"id":"W2990711117","doi":"10.1136/jmedgenet-2019-106403","title":"Retesting of women who are negative for a <i>BRCA1</i> and <i>BRCA2</i> mutation using a 20-gene panel","year":2019,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"Sinai Health System; Lunenfeld-Tanenbaum Research Institute; Women's College Hospital; University of Toronto; Mount Sinai Hospital","funders":"","keywords":"PALB2; Breast cancer; Ovarian cancer; PMS2; Medicine; Oncology; MLH1; Internal medicine; Cancer; Gene; Mutation; Genetics; Biology; Germline mutation; Colorectal cancer; DNA mismatch repair","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008800164,0.000120159,0.0003008193,0.00006259434,0.00003822467,0.00001573848,0.000204255,0.0002025344,0.00002116872],"category_scores_gemma":[0.0008787001,0.000109401,0.00008022788,0.000108768,0.0001182034,0.000005787588,0.00008292696,0.0001460472,3.599302e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009820375,"about_ca_system_score_gemma":0.0005771734,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000233514,"about_ca_topic_score_gemma":0.00000291738,"domain_scores_codex":[0.9985359,0.00006596622,0.0005200298,0.0001764565,0.0004746584,0.0002269506],"domain_scores_gemma":[0.9984533,0.0001120134,0.0006392333,0.0001563355,0.0004503622,0.0001888048],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003874911,0.0001069596,0.008916127,0.0003218155,0.0003958546,0.00001698445,0.001931617,0.004905262,0.9616165,0.00001921883,0.001261004,0.02012116],"study_design_scores_gemma":[0.00892763,0.003585811,0.005051461,0.0009304917,0.0002602059,0.001076025,0.004490451,0.02623502,0.9342915,0.001985974,0.01256323,0.0006021475],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9876728,0.002350108,0.009096393,0.0003564089,0.0002754427,0.0001873859,0.00002370833,0.000001763172,0.00003596423],"genre_scores_gemma":[0.9691749,0.0006018578,0.02923845,0.0004290573,0.0004698664,0.000006444498,0.000006122468,0.00002604029,0.00004725598],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02732495,"threshold_uncertainty_score":0.4461244,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02643889474558443,"score_gpt":0.2982178820094715,"score_spread":0.2717789872638871,"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."}}