{"id":"W4414501173","doi":"10.1136/gutjnl-2024-334601","title":"Hereditary diffuse gastric cancer spectrum associated with germline <i>CTNNA1</i> loss of function revealed by clinical and molecular data from 351 carrier families and over 37 000 non-carrier controls","year":2025,"lang":"en","type":"article","venue":"Gut","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Sinai Health System; BC Cancer Agency","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Cancer Institute; HORIZON EUROPE Framework Programme; Universidade do Porto; Fundación Cellex; European Commission; European Regional Development Fund; Ministério da Saúde; Ministério da Ciência, Tecnologia e Inovação; National Institutes of Health; Generalitat de Catalunya; Centres de Recerca de Catalunya; Agencia Estatal de Investigación","keywords":"Penetrance; Germline; Cancer; Germline mutation; Mechanism (biology); Loss function","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":[0.0004172541,0.0004340411,0.0003367683,0.001134942,0.0004602993,0.0004295185,0.0002689384,0.0002922266,0.002375319],"category_scores_gemma":[0.001183548,0.000259446,0.0003739806,0.000809322,0.0004012633,0.0001713379,0.0005390592,0.000246816,0.0002117],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002776723,"about_ca_system_score_gemma":0.0001570083,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005807304,"about_ca_topic_score_gemma":0.003569037,"domain_scores_codex":[0.9995456,0.00006662416,0.00004742905,0.0002170254,0.00006709683,0.00005613929],"domain_scores_gemma":[0.9994924,0.000130759,0.0001742853,0.00006323286,0.00004441958,0.00009476783],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002103069,0.00002923142,0.993687,0.00001615141,0.00008072562,0.0006928619,0.0001917629,0.00007961656,0.002288806,0.00003666792,0.0001164175,0.002570374],"study_design_scores_gemma":[0.000009535623,0.0001021709,0.996345,0.000006474994,0.00006028953,0.002605966,0.0001529935,0.0001818207,0.0002174933,0.00003425239,0.0002786399,0.000005341353],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994645,0.00009127517,0.00009486049,0.000004676278,8.949651e-7,0.000004668827,0.0002158946,0.000004189718,0.0001190305],"genre_scores_gemma":[0.9992792,0.00007224039,0.0001185614,0.000005832037,0.000001871839,0.000007446034,0.0004255401,0.00000321241,0.00008603986],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005807304,"threshold_uncertainty_score":0.01154703,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01452439289682002,"score_gpt":0.2888737032744194,"score_spread":0.2743493103775994,"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."}}