{"id":"W4412026898","doi":"10.1016/j.cancergen.2025.07.003","title":"Detection of VHL variant on multigene panel testing for hereditary breast cancer: Implications for genetic counselling","year":2025,"lang":"en","type":"article","venue":"Cancer Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"BC Cancer Agency; Willow Breast and Hereditary Cancer Support; University of British Columbia","funders":"","keywords":"Genetic testing; Genetic counseling; Breast cancer; Genetics; Biology; Medicine; Oncology; Cancer","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00005563359,0.0001469293,0.0001458609,0.00004586744,0.0001500344,0.00001346536,0.0001604581,0.0001135398,0.000002222382],"category_scores_gemma":[0.00002787877,0.0001521534,0.00009046814,0.0001064995,0.00004346287,0.000001213137,0.00002096466,0.00003494406,1.918511e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004306263,"about_ca_system_score_gemma":0.0002948791,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001219538,"about_ca_topic_score_gemma":0.0002245301,"domain_scores_codex":[0.9991226,0.00001182205,0.000252017,0.00034711,0.00004620894,0.0002202011],"domain_scores_gemma":[0.9990671,0.00005197403,0.0001204598,0.0002867694,0.0004143824,0.00005927991],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001783737,0.00007419295,0.003688109,0.0001863951,0.0001347719,2.997165e-7,0.00002015313,0.02429238,0.875692,0.00002935541,0.0004485928,0.09525541],"study_design_scores_gemma":[0.002497905,0.0008262437,0.2331198,0.0002130826,0.0005553435,0.00002318106,0.00007852764,0.01905726,0.7161936,0.001686039,0.02510836,0.0006406963],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8961192,0.01336805,0.08582843,0.0002190374,0.0006369565,0.0008637907,0.002930541,0.00001247305,0.00002149861],"genre_scores_gemma":[0.9901886,0.003245014,0.00480555,0.0002709628,0.0005327396,0.0007279672,0.0001051859,0.0000312338,0.00009273857],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2294317,"threshold_uncertainty_score":0.6204636,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02642049351249205,"score_gpt":0.2889771961524614,"score_spread":0.2625567026399694,"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."}}