{"id":"W2144287526","doi":"10.1093/hmg/ddr228","title":"Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium","year":2011,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":173,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Michael's Hospital; Lunenfeld-Tanenbaum Research Institute; University of Toronto; Cancer Care Ontario; Mount Sinai Hospital","funders":"National Cancer Institute; Cancer Council Tasmania; National Health and Medical Research Council; Medical Research Council; Universität Ulm; Cancer Council Victoria; Deutsche Krebshilfe; Medizinischen Hochschule Hannover; Norges Forskningsråd; Ministerio de Economía y Competitividad; KWF Kankerbestrijding; Cancer Research UK; Herlev Hospital; National Institute for Health and Care Research; Academia Sinica; Gentofte Hospital; Breast Cancer Campaign; Cancerfonden; Agency for Science, Technology and Research; Bundesministerium für Bildung und Forschung; National Breast Cancer Foundation; European Commission; Institute of Biomedical Sciences, Academia Sinica; Lon V. Smith Foundation; National Institutes of Health; Deutsche Gesetzliche Unfallversicherung; Susan G. Komen for the Cure; Cancer Care Ontario; Deutsches Krebsforschungszentrum; Sundhed og Sygdom, Det Frie Forskningsråd; University of Melbourne; Robert Bosch Stiftung; NIHR Cambridge Biomedical Research Centre; Helsingin ja Uudenmaan Sairaanhoitopiiri; Taiwan Biobank; U.S. Department of Health and Human Services","keywords":"Biology; Breast cancer; Penetrance; Cancer; Oncology; BRCA2 Protein; Mammary gland; Internal medicine; Genetics; Mutation; Gene; Phenotype; Germline mutation; Medicine","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":["metaepi_narrow","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0003345869,0.0005001632,0.0003798713,0.00005145119,0.0003846118,0.0001138085,0.0006937869,0.0003310965,0.001017387],"category_scores_gemma":[0.00003261719,0.0004356799,0.0001959393,0.0003445109,0.0003721547,0.00001424316,0.0001603171,0.0003719984,0.00002321629],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006904042,"about_ca_system_score_gemma":0.0004504709,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007902103,"about_ca_topic_score_gemma":0.006692117,"domain_scores_codex":[0.9969108,0.0002698368,0.0005007944,0.001027034,0.0006012364,0.0006903232],"domain_scores_gemma":[0.9973982,0.0000350032,0.0005562325,0.001022149,0.0008181877,0.0001702049],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002198686,0.0002711263,0.7231767,0.00002034013,0.0006373865,0.00002374732,0.0004340024,0.0005398006,0.2680346,0.00002123518,0.006051573,0.0005696245],"study_design_scores_gemma":[0.001124586,0.00007714341,0.9254557,0.0001121006,0.0002119587,0.00004566225,0.000217703,0.00003703946,0.07142969,0.0001004969,0.0005932791,0.0005946062],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9917654,0.002402358,0.0004427103,0.0004835705,0.0002981392,0.000560875,0.003793127,0.00004943853,0.0002043933],"genre_scores_gemma":[0.9969791,0.0004241695,0.0002286581,0.0009127414,0.0004404006,0.000176328,0.0004540358,0.0001280651,0.0002564824],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.202279,"threshold_uncertainty_score":0.9998958,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01492851830542522,"score_gpt":0.240928611656623,"score_spread":0.2260000933511978,"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."}}