{"id":"W4405893539","doi":"10.1001/jamanetworkopen.2024.52158","title":"Breast Cancer Susceptibility Gene Sequence Variations and Development of Contralateral Breast Cancer","year":2024,"lang":"en","type":"article","venue":"JAMA Network Open","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; Public Health Ontario; University of Toronto","funders":"National Cancer Institute","keywords":"Breast cancer; CHEK2; Medicine; Cancer; Oncology; Internal medicine; Cancer registry; Penetrance; Population; Estrogen receptor; Epidemiology; Germline mutation; Gynecology; Biology; Genetics; Mutation; 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":[0.0006596964,0.0002345666,0.0002140657,0.0008098191,0.0002089297,0.0003187635,0.0002789741,0.0002657097,0.002628254],"category_scores_gemma":[0.003270938,0.000123144,0.0002760605,0.0008833665,0.0002544151,0.0001688174,0.0001768842,0.000246296,0.0001729107],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001632265,"about_ca_system_score_gemma":0.00021663,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002483153,"about_ca_topic_score_gemma":0.002713644,"domain_scores_codex":[0.9995182,0.0001242242,0.0000499917,0.0001566151,0.0001083003,0.00004266005],"domain_scores_gemma":[0.9980069,0.0005048005,0.001081682,0.0001650321,0.00009986351,0.0001417653],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001269518,0.00001679366,0.9971368,0.00001579467,0.00007206888,0.0001386308,0.00001878647,0.00004613359,0.0006969589,0.00003303096,0.00005890281,0.001639043],"study_design_scores_gemma":[0.000005715297,0.000052722,0.9982492,0.000005327328,0.00004006214,0.001091398,0.00001635893,0.0001253978,0.0002189668,0.00004710769,0.000145604,0.000002218041],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974527,0.0008066119,0.0002708078,0.00004469008,0.000007209388,0.000008398891,0.0005727628,0.00001120497,0.0008256402],"genre_scores_gemma":[0.9993727,0.0001079412,0.0001397899,0.00001269622,0.000008999517,0.000003618484,0.0002385337,0.000002804946,0.0001127791],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002628254,"threshold_uncertainty_score":0.0087924,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02190846109001936,"score_gpt":0.3135843033238784,"score_spread":0.2916758422338591,"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."}}