{"id":"W2041568775","doi":"10.1186/1471-2350-14-5","title":"Contribution of the PALB2 c.2323C&gt;T [p.Q775X] Founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent","year":2013,"lang":"en","type":"article","venue":"BMC Medical Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; McGill University Health Centre; Jewish General Hospital; Centre Hospitalier de l’Université de Montréal; McGill University","funders":"Fonds de Recherche du Québec - Santé; Université de Montréal; Jewish General Hospital; Cancer Research Society; McGill University Health Centre; Canadian Breast Cancer Research Alliance; Ministero dello Sviluppo Economico; McGill University","keywords":"Ovarian cancer; PALB2; Breast cancer; Oncology; Population; Cancer; BRCA mutation; Internal medicine; Medicine; Serous fluid; Founder effect; Gynecology; Germline mutation; Mutation; Biology; Genetics; Genotype; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001714371,0.0001608828,0.0002079672,0.00008069255,0.00006881161,0.00001604443,0.0001605007,0.0002685109,0.0002616303],"category_scores_gemma":[0.0003901603,0.0001228578,0.00003615487,0.0002704014,0.0003343889,0.000005189459,0.00006685082,0.0001109434,7.781549e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001283565,"about_ca_system_score_gemma":0.002543406,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.145643,"about_ca_topic_score_gemma":0.6704816,"domain_scores_codex":[0.9986147,0.0001431941,0.0003916169,0.0002916366,0.0002760067,0.0002828204],"domain_scores_gemma":[0.998989,0.00008688353,0.0001459453,0.0002376276,0.0003404139,0.000200066],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002489056,0.0001917935,0.8592535,0.0003849351,0.0002889651,0.00001165573,0.001003317,0.001561475,0.08182163,0.000317633,0.003385718,0.05153053],"study_design_scores_gemma":[0.001811453,0.000126859,0.9675457,0.0001621999,0.00007334875,0.00008113834,0.0001957308,0.003026306,0.0252241,0.0001452009,0.001396058,0.000211918],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9937492,0.003396143,0.0009026398,0.001024241,0.000227022,0.0004890714,0.0001556807,0.000004086894,0.0000518895],"genre_scores_gemma":[0.9962814,0.002187517,0.0007869957,0.0003391087,0.0001120081,0.000108785,0.00007963669,0.0000175271,0.00008698092],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5248386,"threshold_uncertainty_score":0.8600463,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01230396050633896,"score_gpt":0.2596473779199003,"score_spread":0.2473434174135613,"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."}}