{"id":"W4416983144","doi":"10.21203/rs.3.rs-8149436/v1","title":"Multilocus Inherited Neoplasia Alleles Syndrome: A Retrospective Review from a Canadian Single Institution","year":2025,"lang":"","type":"preprint","venue":"Research Square","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"University Health Network; Princess Margaret Cancer Centre","funders":"Princess Margaret Cancer Foundation","keywords":"Cancer; Breast cancer; Allele; Hereditary Cancer; Genetic testing; Retrospective cohort study; Li–Fraumeni syndrome; Cancer registry","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":[0.0005430347,0.0006189478,0.0007438131,0.005978981,0.003589527,0.001804005,0.001706857,0.0009891117,0.004959691],"category_scores_gemma":[0.003362639,0.0006629169,0.0005755994,0.01376488,0.001071968,0.0004956399,0.001082558,0.0005488835,0.0008708349],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.01349953,"about_ca_system_score_gemma":0.03471345,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.8275355,"about_ca_topic_score_gemma":0.908942,"domain_scores_codex":[0.9980983,0.00006187098,0.0002253307,0.000354814,0.0007990403,0.000460564],"domain_scores_gemma":[0.9952944,0.0004261945,0.001294257,0.0002148907,0.001815667,0.0009545803],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001029538,0.00004871367,0.9370137,0.0004819711,0.0001175154,0.03581583,0.002386161,0.0001145586,0.001291084,0.0004076294,0.00556225,0.01665764],"study_design_scores_gemma":[0.00001735332,0.00007159069,0.9080881,0.0006080507,0.0002855779,0.07001767,0.006522356,0.0001447056,0.0004786741,0.0001012609,0.0135818,0.00008282962],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.955615,0.0172881,0.000578809,0.001240644,0.00006367527,0.0002844809,0.01089362,0.00005913628,0.01397646],"genre_scores_gemma":[0.9762407,0.0146175,0.00107213,0.0009345802,0.00006733699,0.00007281524,0.004553886,0.00006461194,0.002376369],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1724645,"threshold_uncertainty_score":0.3469603,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03909144084293483,"score_gpt":0.3675844229176835,"score_spread":0.3284929820747486,"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."}}