{"id":"W2129093069","doi":"10.1186/bcr1338","title":"A common missense variant in BRCA2 predisposes to early onset breast cancer","year":2005,"lang":"en","type":"article","venue":"Breast Cancer Research","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"Coalition for Research in Women's Health; University of Toronto","funders":"","keywords":"Breast cancer; Missense mutation; Penetrance; Medicine; BRCA2 Protein; Oncology; Odds ratio; Internal medicine; Cancer; Surgical oncology; Allele; Family history; Genetics; Mutation; Biology; Germline 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006926431,0.000238331,0.0002374498,0.0002886404,0.0001703435,0.0000987636,0.0005601793,0.0002029737,0.0006274306],"category_scores_gemma":[0.00003977719,0.000239695,0.00007687858,0.0007776218,0.0001884243,0.00001663692,0.000344054,0.0004054311,0.00009717387],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008085496,"about_ca_system_score_gemma":0.00140957,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.01305298,"about_ca_topic_score_gemma":0.02569451,"domain_scores_codex":[0.9971427,0.0002744621,0.0003380013,0.0007662353,0.000603944,0.0008746634],"domain_scores_gemma":[0.9984359,0.0000422953,0.00005238155,0.0007077815,0.0004510368,0.000310677],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.006695341,0.001143567,0.1936452,0.0001963181,0.0004399246,0.0003686829,0.002991594,0.009595084,0.3028656,0.0001417999,0.1668615,0.3150554],"study_design_scores_gemma":[0.00208311,0.0002281869,0.8817469,0.0003104656,0.00002530424,0.001445479,0.0003302561,0.0003716406,0.03008406,0.0000817985,0.0825777,0.0007150613],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9785562,0.00170601,0.00004061207,0.01634909,0.0001888376,0.0006491222,0.001797898,0.00002251178,0.0006897173],"genre_scores_gemma":[0.9945434,0.0004745722,0.0003103738,0.000763751,0.001158493,0.0009129762,0.00004897767,0.00006777259,0.001719656],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6881017,"threshold_uncertainty_score":0.9935192,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02985162993464681,"score_gpt":0.3761897948939584,"score_spread":0.3463381649593116,"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."}}