{"id":"W2056781336","doi":"10.1136/jmg.2006.043091","title":"Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening","year":2006,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":117,"is_retracted":false,"has_abstract":true,"ca_institutions":"Christie (Canada)","funders":"Breast Cancer Research Trust; National Institute for Health and Care Research","keywords":"Phenocopy; Breast cancer; Proband; Family history; Genetic testing; Cancer; Genetics; Population; Medicine; Genetic counseling; Oncology; Mutation; Incidence (geometry); Internal medicine; Biology; 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":[0.0005114081,0.00008643631,0.0001428943,0.00006244435,0.00005793014,0.00002559326,0.0001576674,0.0001466951,0.000002559354],"category_scores_gemma":[0.0004260066,0.00007802021,0.00004809994,0.00005610786,0.0001337923,0.000005483694,0.00005691288,0.00007185618,4.87944e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001920944,"about_ca_system_score_gemma":0.0002175685,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009963005,"about_ca_topic_score_gemma":0.00007912015,"domain_scores_codex":[0.9991443,0.00002246,0.0003603839,0.0001589886,0.0001675785,0.0001463463],"domain_scores_gemma":[0.9993185,0.0001647566,0.0001369337,0.0001124841,0.000182437,0.00008486511],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0004177139,0.0001621433,0.08145056,0.000339643,0.0001975682,0.000003468801,0.0004213865,0.004012325,0.2622444,0.0009514912,0.01621348,0.6335858],"study_design_scores_gemma":[0.01403242,0.0031009,0.4000994,0.001007521,0.0004503698,0.0007460385,0.001926303,0.01634863,0.1339484,0.02108788,0.4060362,0.001215926],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.750948,0.04940897,0.1952077,0.004039019,0.0001114741,0.0002475631,0.00002098352,0.00000178433,0.00001450924],"genre_scores_gemma":[0.9139143,0.01352996,0.0711281,0.0003962924,0.0008876243,0.00005530483,0.00001061572,0.00001978469,0.00005799997],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6323699,"threshold_uncertainty_score":0.3181572,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05031441344656014,"score_gpt":0.3627895955297988,"score_spread":0.3124751820832387,"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."}}