{"id":"W2989421973","doi":"10.1200/jco.19.01907","title":"Cancer Risks Associated With Germline<i>PALB2</i>Pathogenic Variants: An International Study of 524 Families","year":2019,"lang":"en","type":"article","venue":"Journal of Clinical Oncology","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":418,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Centre Hospitalier de l’Université de Montréal; University of Toronto; McGill University Health Centre; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital","funders":"Congressionally Directed Medical Research Programs; National Institute of Environmental Health Sciences; Canadian Institutes of Health Research; Všeobecná Fakultní Nemocnice v Praze; Uppsala Universitet; Medical Research Council; lékařská fakulta Univerzity Karlovy; Manchester Biomedical Research Centre; National Institutes of Health; Direction Générale de l’offre de Soins; National Institute for Health and Care Research; Vlaamse regering; Sahlgrenska Universitetssjukhuset; Lietuvos Mokslo Taryba; National Health and Medical Research Council; Oulun Yliopisto; Universiti Malaya; National Cancer Institute; Ministerstvo Zdravotnictví Ceské Republiky; Kuopion Yliopistollinen Sairaala; National Medical Research Council; NIH Office of the Director; University of Toronto; Ministero dell’Istruzione, dell’Università e della Ricerca; Lunds Universitet; Ministero della Salute; Cancer Australia; National Breast Cancer Foundation; National Institute on Minority Health and Health Disparities; European Commission; Akademiska Sjukhuset; Academy of Finland; Univerzita Karlova v Praze; Breast Cancer Research Foundation; Government of Canada; University of Cambridge; Fondation du cancer du sein du Québec; Wellcome Trust; Cancer Research UK; Myriad Genetics; Dipartimenti di Eccellenza; Institut National Du Cancer; Yayasan Sime Darby; Susan G. Komen; Associazione Italiana per la Ricerca sul Cancro; Genome Canada; Itä-Suomen Yliopisto; University of Miami","keywords":"PALB2; Medicine; Germline; Cancer; Germline mutation; Genetics; Oncology; Internal medicine; Mutation; Gene; Biology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0009864457,0.0007480276,0.0006065579,0.001031508,0.00067722,0.0005731988,0.0004808678,0.0004013974,0.00237098],"category_scores_gemma":[0.002791614,0.0004792105,0.000665596,0.001619007,0.0005117594,0.0003399526,0.0005351408,0.0004928563,0.0003168369],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003552862,"about_ca_system_score_gemma":0.000151001,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008924259,"about_ca_topic_score_gemma":0.004150441,"domain_scores_codex":[0.9990329,0.0003028735,0.00006204164,0.0004411926,0.00008512709,0.00007584961],"domain_scores_gemma":[0.9981338,0.0004049095,0.0008697155,0.0003235921,0.0001216469,0.0001463955],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000281442,0.00001927067,0.99371,0.00002287179,0.0003046145,0.0002883782,0.0003195631,0.0004767915,0.0008918765,0.00005889052,0.0002180971,0.003408148],"study_design_scores_gemma":[0.00002709811,0.0001228061,0.9967874,0.00002217817,0.0001216069,0.001574362,0.0002278038,0.0003247024,0.0001835927,0.00005698566,0.0005410159,0.00001048482],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978858,0.0002857468,0.0005162152,0.0000206272,0.000002280171,0.00001133121,0.0008624169,0.00000884379,0.000406789],"genre_scores_gemma":[0.998434,0.000213538,0.0003593318,0.00002170394,0.000004795563,0.00002359727,0.0007642248,0.00000859323,0.00017021],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008924259,"threshold_uncertainty_score":0.0177446,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08842016761594139,"score_gpt":0.4625440728670899,"score_spread":0.3741239052511485,"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."}}