{"id":"W6906751359","doi":"10.17863/cam.45201","title":"Cancer risks associated with germline PALB2 pathogenic variants - an international study of 524 families","year":2019,"lang":"en","type":"article","venue":"Apollo (University of Cambridge)","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Canadian Institutes of Health Research; Medical Research Council; lékařská fakulta Univerzity Karlovy; Manchester Biomedical Research Centre; National Institutes of Health; Congressionally Directed Medical Research Programs; Direction Générale de l’offre de Soins; Vlaamse regering; Sahlgrenska Universitetssjukhuset; Lietuvos Mokslo Taryba; Universiti Malaya; National Cancer Institute; Kuopion Yliopistollinen Sairaala; NIH Office of the Director; Oulun Yliopisto; University of Toronto; National Medical Research Council; Lunds Universitet; Ministero della Salute; Cancer Australia; National Breast Cancer Foundation; National Institute for Health and Care Research; European Commission; Ministerstvo Zdravotnictví Ceské Republiky; Akademiska Sjukhuset; Academy of Finland; Breast Cancer Research Foundation; University of Cambridge; Wellcome Trust; Cancer Research UK; Government of Canada; National Health and Medical Research Council; Institut National Du Cancer; Yayasan Sime Darby; Uppsala Universitet; Ministero dell’Istruzione, dell’Università e della Ricerca; Fondation du cancer du sein du Québec; Susan G. Komen; Dipartimenti di Eccellenza; Associazione Italiana per la Ricerca sul Cancro; Genome Canada; Itä-Suomen Yliopisto; Univerzita Karlova v Praze; Myriad Genetics; Všeobecná Fakultní Nemocnice v Praze; University of Miami","keywords":"PALB2; Breast cancer; Population; Cancer; Risk factors for breast cancer; Risk factor","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009943201,0.0006874331,0.0006148117,0.001315962,0.000688471,0.0005622379,0.0004297362,0.0004285317,0.002702323],"category_scores_gemma":[0.002705291,0.0004478923,0.0007200639,0.002208308,0.0004298695,0.0003205433,0.0005325472,0.0004546649,0.0003965578],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003724542,"about_ca_system_score_gemma":0.0001526211,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008175481,"about_ca_topic_score_gemma":0.00409319,"domain_scores_codex":[0.9990152,0.0003316071,0.00006883747,0.0004222746,0.00009066326,0.00007140523],"domain_scores_gemma":[0.9983348,0.0003634859,0.0007670292,0.0002978062,0.0001106863,0.0001261669],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000187367,0.00001383393,0.9949497,0.00002650289,0.0002350673,0.0002274777,0.00028186,0.0003694284,0.0005477016,0.00005471447,0.0002118714,0.002894553],"study_design_scores_gemma":[0.00001823686,0.0000909415,0.9967532,0.00002669464,0.0001177061,0.001566378,0.0002521955,0.0003139581,0.0001459296,0.00005936533,0.000646313,0.000009180938],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969784,0.00050873,0.0005712577,0.00002454007,0.000002739752,0.00001407912,0.001366168,0.00001039921,0.0005236164],"genre_scores_gemma":[0.9977908,0.0003080986,0.0004155027,0.00002271842,0.000005489319,0.00003181481,0.001181824,0.000009272741,0.0002344134],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008175481,"threshold_uncertainty_score":0.0162558,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01565594996166562,"score_gpt":0.2596933361391877,"score_spread":0.2440373861775221,"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."}}