{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.006061399,0.002446561,0.001914285,0.002119575,0.002653574,0.001228241,0.001698413,0.002078758,0.04437703],"category_scores_gemma":[0.006347673,0.001463099,0.001667581,0.002130524,0.0009954609,0.001292971,0.001603778,0.001813025,0.006989103],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004621134,"about_ca_system_score_gemma":0.01617329,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02235017,"about_ca_topic_score_gemma":0.03165943,"domain_scores_codex":[0.9965979,0.001593095,0.0005790857,0.0005203431,0.0002256914,0.000483895],"domain_scores_gemma":[0.9959707,0.0008324307,0.0007983748,0.000349681,0.001419441,0.0006294516],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.1171613,0.02952714,0.2577045,0.05780357,0.002360571,0.005252295,0.01171669,0.009487695,0.005449765,0.009747154,0.3043689,0.1894204],"study_design_scores_gemma":[0.0810595,0.02946836,0.5739516,0.02246127,0.001793881,0.001801239,0.008971291,0.005713705,0.00195965,0.006012763,0.266129,0.000677739],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"protocol","genre_gemma":"protocol","genre_scores_codex":[0.03388287,0.0009902898,0.003130578,0.0004817734,0.000151455,0.9246628,0.03046583,0.0001099628,0.006124373],"genre_scores_gemma":[0.02068135,0.0005065958,0.002665367,0.0002516437,0.00003920832,0.9690143,0.005826361,0.00001048072,0.001004636],"genre_candidate":"protocol","genre_consensus":"protocol","teacher_disagreement_score":0.04437703,"threshold_uncertainty_score":0.148456,"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."}}