{"id":"W2157374936","doi":"10.1186/1471-2407-8-96","title":"Haplotype analysis of TP53 polymorphisms, Arg72Pro and Ins16, in BRCA1 and BRCA2 mutation carriers of French Canadian descent","year":2008,"lang":"en","type":"article","venue":"BMC Cancer","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"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; Cancer Research Society; McGill University","keywords":"Breast cancer; Allele; Haplotype; Genetics; Germline mutation; Genotype; Linkage disequilibrium; Mutation; Allele frequency; Medicine; Cancer; Population; BRCA mutation; Oncology; Biology; 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":[0.0003098941,0.0002981713,0.0002453891,0.001469605,0.001230893,0.0003190135,0.0003606927,0.0003810305,0.002195099],"category_scores_gemma":[0.001556204,0.0001970356,0.0002830772,0.001320999,0.0003966304,0.00009454616,0.0002472364,0.0002066023,0.000143222],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002683606,"about_ca_system_score_gemma":0.001944896,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.7584209,"about_ca_topic_score_gemma":0.7208853,"domain_scores_codex":[0.9996384,0.00003756868,0.00001538241,0.00009257874,0.00008903957,0.0001269972],"domain_scores_gemma":[0.9994544,0.00009988634,0.0001498714,0.00003426809,0.0001362504,0.0001252655],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004931845,0.00003087422,0.9888764,0.00001836859,0.00008305362,0.0005680255,0.0008180387,0.0001669853,0.002915951,0.00008455515,0.0002423078,0.005702405],"study_design_scores_gemma":[0.00001418315,0.00006841496,0.9979651,0.000007209329,0.00004252606,0.0006406266,0.0002918032,0.000204842,0.0002431693,0.00002718057,0.0004887187,0.000006163109],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993736,0.0001396662,0.00004230548,0.00001742377,0.00000146788,0.000005164327,0.0001706342,0.000001608395,0.0002483185],"genre_scores_gemma":[0.9994001,0.0000752334,0.00007925992,0.0000104229,0.000001620561,0.000003853814,0.0002030541,0.000001424272,0.0002249272],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2415791,"threshold_uncertainty_score":0.4860036,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01686445365975281,"score_gpt":0.2593092183369869,"score_spread":0.2424447646772341,"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."}}