{"id":"W2142134526","doi":"10.1186/1471-2350-7-23","title":"Haplotype analysis suggest common founders in carriers of the recurrent BRCA2mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families","year":2006,"lang":"en","type":"article","venue":"BMC Medical Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":33,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hôtel-Dieu de Montréal; Université de Montréal; Hôpital Notre-Dame; McGill University Health Centre; Centre Hospitalier de l’Université de Montréal; McGill University","funders":"McGill University Health Centre; Canadian Institutes of Health Research; Cancer Research Society; McGill University","keywords":"Breast cancer; Ovarian cancer; Haplotype; Population; Genotyping; Biology; Genetics; Cancer; Mutation; Family history; Founder effect; Allele frequency; Oncology; Allele; Internal medicine; Medicine; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002415633,0.0002599789,0.0002488315,0.001610423,0.001114694,0.0002833572,0.0003049884,0.0003572646,0.002284065],"category_scores_gemma":[0.001195119,0.0001626359,0.0002037527,0.000980111,0.0004981335,0.00007749826,0.0002226024,0.0001951936,0.0001215114],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001358205,"about_ca_system_score_gemma":0.001347616,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.4663662,"about_ca_topic_score_gemma":0.524064,"domain_scores_codex":[0.9996707,0.00003363872,0.00001601786,0.00008469009,0.00008605044,0.0001089143],"domain_scores_gemma":[0.9995207,0.000092323,0.0001477656,0.00003267133,0.0001068009,0.00009988277],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000296058,0.00002715016,0.9769096,0.00001946417,0.00006551789,0.001987198,0.001199368,0.0001919146,0.01040145,0.0001182397,0.0003109035,0.008472987],"study_design_scores_gemma":[0.00001439675,0.00007010059,0.9940642,0.000007901788,0.00005735894,0.003480327,0.000429012,0.0002925768,0.0006544827,0.00004056194,0.0008796229,0.000009544456],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992549,0.0001408773,0.00008252099,0.00002380245,0.00000180714,0.000005731873,0.0001440893,0.000004773214,0.000341574],"genre_scores_gemma":[0.9994771,0.00007278675,0.00011299,0.00001500455,0.000002536542,0.000003579452,0.0001343797,0.000001956603,0.0001797911],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5336338,"threshold_uncertainty_score":0.9273034,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008650065708799901,"score_gpt":0.2593901526536166,"score_spread":0.2507400869448167,"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."}}