{"id":"W2755932276","doi":"10.2196/resprot.8138","title":"Cancer Predisposition Cascade Screening for Hereditary Breast/Ovarian Cancer and Lynch Syndromes in Switzerland: Study Protocol","year":2017,"lang":"en","type":"article","venue":"JMIR Research Protocols","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":36,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Universität Basel","keywords":"Lynch syndrome; Medicine; Ovarian cancer; Cancer; Breast cancer; Endometrial cancer; Oncology; Genetic testing; Gynecology; Colorectal cancer; Internal medicine; Genetic predisposition; Genetic counseling; Disease; DNA mismatch repair; Genetics; Biology","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00110478,0.0002084925,0.0002207808,0.0001438536,0.0006535698,0.0002820704,0.0005515637,0.000201895,0.00004985325],"category_scores_gemma":[0.00009975593,0.0001915587,0.00004575393,0.0001175678,0.000221441,0.00004157439,0.0004283031,0.000322735,0.000001545012],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001620929,"about_ca_system_score_gemma":0.0005746891,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001016743,"about_ca_topic_score_gemma":0.003099345,"domain_scores_codex":[0.9977629,0.0002030688,0.0003087241,0.0007217398,0.000423612,0.0005799741],"domain_scores_gemma":[0.9985716,0.0000336659,0.0001474979,0.0007629,0.0003468528,0.0001374791],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01198685,0.002495013,0.6424388,0.002513612,0.0005126966,0.0001300141,0.001940728,0.0004058207,0.1004809,0.00006836745,0.02938377,0.2076434],"study_design_scores_gemma":[0.02103027,0.004178764,0.8562618,0.00242518,0.00001552592,0.00009783865,0.000681055,0.0008532702,0.02163594,0.000386501,0.09167913,0.0007546959],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"protocol","genre_gemma":"protocol","genre_scores_codex":[0.05802989,0.00001777708,0.0001063828,0.0008350349,0.00001829118,0.9406581,0.0001934522,0.0000143683,0.0001267194],"genre_scores_gemma":[0.1074992,0.000001781824,0.0004377359,0.00002399396,0.0005498397,0.8908997,0.00002160124,0.00004584685,0.0005202319],"genre_candidate":"protocol","genre_consensus":"protocol","teacher_disagreement_score":0.213823,"threshold_uncertainty_score":0.7811538,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1468298044949554,"score_gpt":0.5363134540268636,"score_spread":0.3894836495319082,"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."}}