{"id":"W3160306401","doi":"10.1038/s41523-021-00255-3","title":"Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects","year":2021,"lang":"en","type":"article","venue":"npj Breast Cancer","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":21,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Sinai Health System; Université Laval; Lunenfeld-Tanenbaum Research Institute; Centre hospitalier universitaire de Québec","funders":"National Cancer Institute; Instituto de Salud Carlos III; Medical Research Council; Freistaat Sachsen; Unicancer; Canadian Institutes of Health Research; Direction Générale de l’offre de Soins; Universität Leipzig; National Health and Medical Research Council; Institut National Du Cancer; Agence Nationale de la Recherche; Cancer Australia; European Regional Development Fund; National Breast Cancer Foundation; Fundación Cellex; European Commission; University of Cambridge; Cancer Research UK; Centres de Recerca de Catalunya; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; Government of Canada; Fondation du cancer du sein du Québec; Generalitat de Catalunya; National Institute for Health and Care Research; Genome Canada; Cancer Council Victoria; Deutsche Krebshilfe; Victorian Cancer Agency","keywords":"Breast cancer; Missense mutation; Germline mutation; Germline; Allele; Male breast cancer; Haploinsufficiency; Penetrance; Genetics; Biology; PALB2; Cancer; Oncology; Cancer research; Medicine; Mutation; Gene; Phenotype","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":[0.0005787089,0.000165617,0.0003765916,0.0001038143,0.00002626356,0.000008740745,0.0001660897,0.00010518,0.0007526537],"category_scores_gemma":[0.00007096896,0.0001241467,0.00007973609,0.0004063373,0.00005626331,0.000143796,0.00006806745,0.0001801038,4.387307e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001158065,"about_ca_system_score_gemma":0.0009471825,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002661482,"about_ca_topic_score_gemma":0.01632343,"domain_scores_codex":[0.9970443,0.0003219603,0.0004942485,0.0003400917,0.001615289,0.0001840766],"domain_scores_gemma":[0.9963283,0.00003698776,0.0005038867,0.000370865,0.002703541,0.00005643645],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001007245,0.003204761,0.9687635,0.00008279274,0.0005013642,0.000003890158,0.001609421,0.003113729,0.01328382,0.000001605206,0.00002967296,0.008398185],"study_design_scores_gemma":[0.01047957,0.0002499826,0.9773876,0.0005547448,0.0005194516,0.00007082531,0.0003606914,0.003596484,0.006666663,0.000004786722,0.000005477399,0.0001037473],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966542,0.0001544143,0.00001544113,0.0005263646,0.0007848013,0.0008377702,0.0008431287,0.000008592125,0.0001753393],"genre_scores_gemma":[0.9992765,0.00004303246,0.00009137524,0.00007987185,0.0001903945,0.0001948387,0.00003606057,0.00002551214,0.00006239018],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01366195,"threshold_uncertainty_score":0.9108856,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02590124000455008,"score_gpt":0.3266547738514796,"score_spread":0.3007535338469295,"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."}}