{"id":"W1541382664","doi":"10.1111/cge.12524","title":"Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland","year":2014,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":45,"is_retracted":false,"has_abstract":true,"ca_institutions":"Public Health Ontario; Women's College Hospital; University of Toronto","funders":"","keywords":"PALB2; CHEK2; Breast cancer; Mutation; Genetics; Founder effect; BRCA2 Protein; Cancer; Exome sequencing; Germline mutation; Genetic testing; Biology; Medicine; Gene; Haplotype; Genotype","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":[0.0001747697,0.0004448334,0.0004570723,0.00142387,0.0006630815,0.0004892929,0.0002458859,0.0003264498,0.00141319],"category_scores_gemma":[0.001101794,0.0005660977,0.0003686961,0.0009930156,0.000327416,0.0002099095,0.0005722694,0.0002748802,0.0002066519],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003766977,"about_ca_system_score_gemma":0.0003291417,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005946834,"about_ca_topic_score_gemma":0.005631827,"domain_scores_codex":[0.9997756,0.00002917091,0.00003516202,0.00007024939,0.00003642656,0.00005333701],"domain_scores_gemma":[0.9998296,0.00002578208,0.00006502999,0.00001565911,0.00002063095,0.00004323425],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003272156,0.00003287682,0.9890226,0.00002744557,0.00005067398,0.003677158,0.0002781013,0.00005488928,0.003030884,0.00003219496,0.0001377305,0.003328189],"study_design_scores_gemma":[0.00004596766,0.00009661104,0.9887403,0.00001450452,0.00006962834,0.009499344,0.0003408839,0.0001469514,0.0004742532,0.0000693827,0.0004946037,0.000007721314],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995621,0.0001259717,0.00004802358,0.00001854612,0.00000181461,0.000009633703,0.00007286698,0.000002441221,0.000158625],"genre_scores_gemma":[0.9993646,0.0001687376,0.0001099439,0.00002861941,0.000003049269,0.000009747604,0.0001766448,0.000003262079,0.0001352954],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005946834,"threshold_uncertainty_score":0.01182449,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01574506191424261,"score_gpt":0.336151692123663,"score_spread":0.3204066302094204,"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."}}