{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008167743,0.0004897896,0.0005132021,0.0009725055,0.0007494693,0.0005267275,0.0003859512,0.0004788748,0.001265498],"category_scores_gemma":[0.001463988,0.0004881884,0.0003993642,0.001107124,0.0004454277,0.000253777,0.0005691001,0.0004778493,0.0002509919],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002420948,"about_ca_system_score_gemma":0.0002103641,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005313591,"about_ca_topic_score_gemma":0.003783158,"domain_scores_codex":[0.9993832,0.0001703599,0.00004215807,0.0002373296,0.00007848617,0.00008840147],"domain_scores_gemma":[0.9991591,0.0001861207,0.0002293904,0.0001493619,0.0000829478,0.000193148],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001789197,0.0000481564,0.9970887,0.000009137708,0.0001110628,0.000166559,0.0002199963,0.00003123322,0.001173727,0.00001708214,0.00004679057,0.0009085961],"study_design_scores_gemma":[0.00001430934,0.0001685876,0.9986915,0.000002830201,0.00007432785,0.000447276,0.00018752,0.0001151142,0.0001548245,0.00001202239,0.0001284629,0.000003291568],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995196,0.00006023991,0.00009727594,0.000008928429,0.00000138635,0.00000848639,0.0001296089,0.000002364688,0.0001720137],"genre_scores_gemma":[0.9993687,0.00005067191,0.0001020941,0.00001345201,0.000005267635,0.00001127794,0.0003429244,0.000003036736,0.0001027374],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005313591,"threshold_uncertainty_score":0.01056534,"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."}}