{"id":"W1838840306","doi":"","title":"Double Heterozygosity of BRCA2 and STK11 in Familial Breast Cancer Detected by Exome Sequencing.","year":2015,"lang":"en","type":"article","venue":"PubMed","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University and Génome Québec Innovation Centre; McGill University; McGill Genome Centre","funders":"","keywords":"Genetics; Exome sequencing; STK11; Breast cancer; Sanger sequencing; Biology; BRCA2 Protein; Penetrance; Loss of heterozygosity; Exome; Germline mutation; Massive parallel sequencing; Missense mutation; Mutation; Cancer; Gene; DNA sequencing; Allele; Phenotype; KRAS","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"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":[0.0002310588,0.0006086395,0.0002581777,0.001102078,0.0003767142,0.0002732893,0.0002690922,0.0006398912,0.001448919],"category_scores_gemma":[0.0005948696,0.0001857241,0.0002959137,0.0006087674,0.0002858576,0.0001554327,0.000357328,0.0002523072,0.0002391543],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002121724,"about_ca_system_score_gemma":0.0002123019,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009286888,"about_ca_topic_score_gemma":0.001958537,"domain_scores_codex":[0.9998156,0.00002423442,0.00002160616,0.00006415242,0.00004402715,0.0000303993],"domain_scores_gemma":[0.9997523,0.00007027583,0.00008507036,0.00002082704,0.00002450367,0.00004695523],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008462581,0.0001293925,0.3947101,0.0002616153,0.0002421219,0.3779608,0.001000841,0.0006262939,0.1982365,0.0005313377,0.001322056,0.02413266],"study_design_scores_gemma":[0.00006760978,0.0003575722,0.4127429,0.00006839462,0.0003484834,0.5357871,0.0005842789,0.001558816,0.04339446,0.0005481817,0.004513464,0.00002878866],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975821,0.0005749157,0.0007322445,0.00009655266,0.00001680466,0.00001922272,0.000248085,0.00002428442,0.0007057806],"genre_scores_gemma":[0.9988084,0.0001840684,0.0004598564,0.0000582723,0.000009028606,0.00000499975,0.000171056,0.000005169894,0.0002991364],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001448919,"threshold_uncertainty_score":0.004847169,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02700388423299801,"score_gpt":0.2496849973779231,"score_spread":0.2226811131449251,"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."}}