{"id":"W2007180883","doi":"10.1136/jmg.39.6.407","title":"Change in the penetrance of founder <i>BRCA1/2</i> mutations? A retrospective cohort study","year":2002,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University; McGill University; McGill University Health Centre; Jewish General Hospital; Montreal General Hospital","funders":"U.S. Department of Defense","keywords":"Penetrance; Founder effect; Genetics; Breast cancer; Population; Cohort; Mutation; Medicine; Cancer; Allele; Oncology; Biology; Internal medicine; Haplotype; Phenotype; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001208401,0.00009942582,0.0002058642,0.00007071146,0.00003424208,0.0000132391,0.0004958609,0.0001293203,0.0001573157],"category_scores_gemma":[0.0003121247,0.00007279102,0.0000837016,0.0002498737,0.0001468352,0.000004494243,0.00004709343,0.0002665205,0.000002198875],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005528889,"about_ca_system_score_gemma":0.0001157953,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001662274,"about_ca_topic_score_gemma":0.0001569356,"domain_scores_codex":[0.9979582,0.0001833123,0.000505774,0.0001480264,0.001059918,0.0001447682],"domain_scores_gemma":[0.9991123,0.00004429503,0.0002707189,0.0002600847,0.0002438341,0.00006873098],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00005165849,0.001243673,0.9735585,0.00002220721,0.0002523883,0.00007297299,0.005033888,0.0002502158,0.002514211,0.00003964511,0.005057249,0.01190336],"study_design_scores_gemma":[0.001998725,0.001429444,0.9869274,0.00004249128,0.00009176617,0.0002123321,0.001346106,0.0005409617,0.002043483,0.0001853661,0.005040571,0.0001413805],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9918423,0.004934934,0.000635147,0.001575085,0.0003173488,0.0003303084,0.000004679371,0.000001164244,0.000359048],"genre_scores_gemma":[0.9961687,0.002040904,0.000510375,0.0006609469,0.0005514215,0.00002511808,0.000002215157,0.00001216347,0.00002817793],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01336884,"threshold_uncertainty_score":0.2968331,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03389125628238156,"score_gpt":0.3249707390485348,"score_spread":0.2910794827661533,"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."}}