{"id":"W3016674835","doi":"10.1038/s41598-020-63100-w","title":"Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls","year":2020,"lang":"en","type":"article","venue":"Scientific Reports","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":35,"is_retracted":false,"has_abstract":true,"ca_institutions":"Jewish General Hospital; Université de Montréal; McGill University Health Centre; Centre Hospitalier de l’Université de Montréal; McGill University","funders":"Fonds de Recherche du Québec - Santé; McGill University","keywords":"PALB2; Breast cancer; Founder effect; Genotyping; Family history; Ovarian cancer; Population; Cancer; Genetic testing; Genetics; Medicine; Oncology; Genotype; Germline mutation; Biology; Internal medicine; Mutation; Haplotype; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008041591,0.0004657487,0.0002873435,0.002498746,0.001923286,0.000818061,0.0006082403,0.0005267218,0.002270157],"category_scores_gemma":[0.003008702,0.0002611883,0.0004034739,0.001428883,0.0007829767,0.0001379463,0.0004169823,0.0002412569,0.0001819888],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.006028182,"about_ca_system_score_gemma":0.003058683,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9284343,"about_ca_topic_score_gemma":0.9190614,"domain_scores_codex":[0.9990814,0.00009757598,0.00005255532,0.0002552679,0.0002922951,0.0002209223],"domain_scores_gemma":[0.9992706,0.0001126338,0.0001501279,0.00006206718,0.0002536209,0.0001509773],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003220205,0.00003506662,0.9882196,0.00002806794,0.0000822263,0.0005286388,0.00102653,0.000151498,0.001900716,0.00020163,0.0006933099,0.006810633],"study_design_scores_gemma":[0.00002180311,0.00007687119,0.9960917,0.00001587247,0.00006404392,0.000902983,0.0005899966,0.0002215564,0.0004720446,0.0000385253,0.001490119,0.00001448328],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996733,0.0006294284,0.0001640652,0.00008310733,0.000008718544,0.000030374,0.0008776829,0.00001212546,0.001461714],"genre_scores_gemma":[0.9982771,0.0003089925,0.0001989958,0.00004804919,0.00000593914,0.00001290597,0.0005754998,0.000003513569,0.000569055],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07156569,"threshold_uncertainty_score":0.1439742,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01612603273290818,"score_gpt":0.2580190799914931,"score_spread":0.241893047258585,"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."}}