{"id":"W4385948292","doi":"10.1038/s41588-023-01466-z","title":"Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk","year":2023,"lang":"en","type":"review","venue":"Nature Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":63,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Centre hospitalier de l'Université Laval; Centre hospitalier universitaire de Québec","funders":"National Cancer Institute; Servicio Gallego de Salud; Medical Research Council; Canadian Institutes of Health Research; Horizon 2020 Framework Programme; National Institutes of Health; Freistaat Sachsen; Agence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du Travail; Institut National Du Cancer; Deutsche Krebshilfe; Ministerio de Economía y Competitividad; National University Health System; Fondation de France; University of Manchester; Instituto de Salud Carlos III; Xunta de Galicia; National University of Singapore; Wellcome Trust; Cancer Research UK; University College London; National Medical Research Council; Research Promotion Foundation; University of Cambridge; Deutsche Forschungsgemeinschaft; Wellcome; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; Government of Canada; Fondation du cancer du sein du Québec; European Regional Development Fund; Bundesministerium für Bildung und Forschung; National Institute for Health and Care Research; Genome Canada; Deutsches Krebsforschungszentrum; European Commission; Knight Cancer Institute, Oregon Health and Science University; Oregon Health and Science University; Agence Nationale de la Recherche","keywords":"CHEK2; PALB2; Biology; Breast cancer; Exome sequencing; Exome; Missense mutation; Genetics; CDKN2A; Gene; Cancer; Mutation; Germline mutation","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":[0.001219706,0.000808597,0.00194906,0.002071668,0.0001204895,0.0007702986,0.0008244723,0.0009178091,0.002394386],"category_scores_gemma":[0.00153227,0.0003105098,0.0007297414,0.002013227,0.0003608989,0.0005854551,0.0005942941,0.001355738,0.001167579],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006166162,"about_ca_system_score_gemma":0.0008592964,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001191985,"about_ca_topic_score_gemma":0.001804028,"domain_scores_codex":[0.9996835,0.0000881606,0.00004125826,0.00007593565,0.00008521389,0.00002598629],"domain_scores_gemma":[0.9991853,0.0005375543,0.00007680886,0.00002325448,0.0001405185,0.00003655008],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"systematic_review","study_design_scores_codex":[0.000173691,0.00002292162,0.0007988033,0.01501136,0.000605322,0.0001926065,0.00002397335,0.0003972537,0.001340933,0.002450868,0.018811,0.9601712],"study_design_scores_gemma":[0.0001012767,0.0002107002,0.01110844,0.01313497,0.001657678,0.003439191,0.00008068915,0.0004101921,0.001586351,0.005838329,0.9623754,0.00005673906],"study_design_candidate":"systematic_review","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001595458,0.9987535,0.0002106118,0.0003128983,0.00009605961,0.000003090279,0.00005297216,0.000005942269,0.000405278],"genre_scores_gemma":[0.001125057,0.9979102,0.0002320748,0.0002294076,0.00009720567,0.000007592788,0.00009312835,0.000002778271,0.0003024465],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.002394386,"threshold_uncertainty_score":0.00800997,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02539383329767284,"score_gpt":0.3411986819226214,"score_spread":0.3158048486249486,"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."}}