{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002204496,0.000202194,0.0002616735,0.00008504003,0.00005381945,0.00003487518,0.0002750932,0.0002457565,0.00008987349],"category_scores_gemma":[0.0000717142,0.0002080811,0.000074927,0.0002099894,0.0001083986,0.000005750805,0.0001670647,0.0001713125,0.00001220863],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001289052,"about_ca_system_score_gemma":0.0003099265,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001413145,"about_ca_topic_score_gemma":0.01612196,"domain_scores_codex":[0.9980489,0.0001642926,0.0006510947,0.0006131203,0.0001691241,0.0003534951],"domain_scores_gemma":[0.9990699,0.00006640975,0.0001270249,0.0003992465,0.0001515807,0.0001858038],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000129296,0.0001629535,0.9255711,0.000007580991,0.00003565057,8.492619e-7,0.000110182,0.008030235,0.006569511,0.000001478053,0.0006743284,0.05870677],"study_design_scores_gemma":[0.001464301,0.00008291667,0.9893929,0.00006743375,0.00003281571,0.000001594152,0.00002816809,0.001353488,0.002045805,0.00006670913,0.005188419,0.0002753872],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9946625,0.000765398,0.0003494358,0.001093757,0.0008794955,0.0003045873,0.001845247,0.000009055898,0.00009056809],"genre_scores_gemma":[0.995481,0.001146597,0.0009450507,0.001074572,0.0008726162,0.0001262585,0.0002387778,0.00004326164,0.00007185765],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0638218,"threshold_uncertainty_score":0.8996431,"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."}}