{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002630501,0.0001440652,0.0002103393,0.0002005822,0.00005544785,0.00001155178,0.0002674786,0.0002325673,0.00007062656],"category_scores_gemma":[0.00009942733,0.0001285262,0.00006430232,0.0007217819,0.000312461,0.0000029146,0.0000756961,0.0001581621,5.295079e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001681593,"about_ca_system_score_gemma":0.002021401,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.2564084,"about_ca_topic_score_gemma":0.9797388,"domain_scores_codex":[0.998539,0.0001526836,0.000404714,0.0003113943,0.0003200658,0.0002720986],"domain_scores_gemma":[0.9993107,0.00004506687,0.00008844138,0.000322557,0.00008462086,0.0001485788],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00001619164,0.00004007635,0.9757061,0.00003384638,0.00008214347,0.000004433781,0.0002025619,0.01576299,0.0003837871,0.0000378214,0.001221087,0.006508968],"study_design_scores_gemma":[0.000633508,0.00003876802,0.9916472,0.00004336859,0.0001044064,0.00001114345,0.0003898201,0.004628504,0.0006561011,0.0001973534,0.001478913,0.000170874],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933736,0.004447505,0.0004009833,0.0008057617,0.0003187204,0.0001887496,0.0001531575,0.000003365985,0.0003081619],"genre_scores_gemma":[0.9982114,0.0006143444,0.0005542528,0.0002112265,0.0001462974,0.00003784637,0.0001586395,0.00001585345,0.00005015152],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7233304,"threshold_uncertainty_score":0.7485433,"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."}}