{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002734948,0.0002575595,0.0007270026,0.00006931058,0.00005056873,0.00001888045,0.0001516928,0.000231108,0.0001538926],"category_scores_gemma":[0.0003171024,0.0002088804,0.00005438395,0.0002745483,0.0003946463,0.00007844641,0.0001916612,0.0003509411,6.715409e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007495499,"about_ca_system_score_gemma":0.0002561524,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00137611,"about_ca_topic_score_gemma":0.0007950568,"domain_scores_codex":[0.9981064,0.000110118,0.0005077631,0.0006372033,0.0003507657,0.0002877901],"domain_scores_gemma":[0.9985735,0.0003004726,0.0001869029,0.0006638422,0.0001045187,0.0001707554],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002199291,0.0001695946,0.9541833,0.00007470291,0.0009817291,0.00005055238,0.0000585872,0.000005944338,0.01451908,0.000002399401,0.02646945,0.001285403],"study_design_scores_gemma":[0.01123391,0.0007170688,0.9812483,0.0004002018,0.001272258,0.000006601943,0.00007835425,0.0008602981,0.001293767,0.0001300438,0.002527663,0.0002315059],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9868305,0.007702845,0.0003917274,0.0005332649,0.0005022501,0.0005983649,0.003205788,0.00002988444,0.0002053177],"genre_scores_gemma":[0.9962524,0.001034471,0.0001226741,0.001408424,0.0001726663,0.00003441042,0.0004431894,0.00003295163,0.0004988321],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02706506,"threshold_uncertainty_score":0.8517895,"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."}}