{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001606905,0.0001326435,0.0006598659,0.00008692004,0.00002499566,0.000009684,0.0004661029,0.0003274611,0.000132275],"category_scores_gemma":[0.001056297,0.0001003305,0.0001837351,0.00012174,0.0001485357,0.00001960098,0.00009110059,0.0004007311,0.000003589741],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001061261,"about_ca_system_score_gemma":0.001954978,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000531876,"about_ca_topic_score_gemma":0.0005678874,"domain_scores_codex":[0.9973195,0.0004922828,0.001423546,0.0002659869,0.0003405743,0.0001581277],"domain_scores_gemma":[0.9964865,0.0002454391,0.001889826,0.0002933514,0.0009452886,0.0001395753],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003980828,0.005281748,0.9265454,0.000008861733,0.002778893,0.00005194133,0.0004980256,0.004434209,0.0193341,0.00002624746,0.001034351,0.03602543],"study_design_scores_gemma":[0.0133937,0.03708502,0.9233574,0.000061912,0.0004068052,0.00006190571,0.002283448,0.0003154218,0.001157711,0.00007834821,0.02153092,0.0002673875],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960695,0.000277664,0.0001060158,0.0003000622,0.002035733,0.0001956995,0.00002897467,0.000003265885,0.0009831033],"genre_scores_gemma":[0.996861,0.0006726959,0.0008382646,0.000560799,0.0007842527,0.000009370133,0.00001800287,0.000021255,0.0002343771],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03575804,"threshold_uncertainty_score":0.409136,"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."}}