{"id":"W3181539042","doi":"10.17863/cam.71280","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":"Apollo (University of Cambridge)","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"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; Germline mutation; Missense mutation; Germline; Penetrance; Allele; Male breast cancer; Genetics; Haploinsufficiency; Biology; PALB2; Cancer; Oncology; 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":[0.0008720152,0.0005508559,0.0005406927,0.001100347,0.0007683629,0.000542498,0.0003787368,0.0005020464,0.001622968],"category_scores_gemma":[0.001554782,0.0005095461,0.0004191,0.001262449,0.0004638678,0.0002759042,0.0005675391,0.0005301572,0.0003398406],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002639815,"about_ca_system_score_gemma":0.0002434507,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006196084,"about_ca_topic_score_gemma":0.004575792,"domain_scores_codex":[0.9993438,0.0001824231,0.00004238749,0.0002456804,0.00009053649,0.00009509276],"domain_scores_gemma":[0.9989873,0.0002070694,0.0002837475,0.0001639266,0.0001017496,0.0002562333],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001580698,0.00004767584,0.9973412,0.0000102597,0.0001211483,0.0001736213,0.0002053102,0.00002330766,0.0009915124,0.00001540997,0.00005789102,0.0008546222],"study_design_scores_gemma":[0.00001450949,0.0001711451,0.998596,0.000003053931,0.00007872625,0.0005205037,0.0001906621,0.0000973237,0.000147645,0.00001135106,0.0001656582,0.000003407622],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999294,0.00009799172,0.0001375163,0.00001295065,0.000002256654,0.0000107595,0.0002069053,0.000003213129,0.0002342651],"genre_scores_gemma":[0.9990526,0.00007095349,0.0001381639,0.00001934105,0.000007094561,0.00001454313,0.0005486465,0.000004136106,0.0001444569],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006196084,"threshold_uncertainty_score":0.01232004,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01082079787973814,"score_gpt":0.2411305942823998,"score_spread":0.2303097964026616,"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."}}