{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.004685786,0.0006273621,0.0009373543,0.0014951,0.000667832,0.001441684,0.000892889,0.0009179072,0.002494677],"category_scores_gemma":[0.01237378,0.0003618651,0.001287153,0.002792756,0.0008180248,0.0003754506,0.001387887,0.001015768,0.0002020414],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000276619,"about_ca_system_score_gemma":0.0004712672,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005496873,"about_ca_topic_score_gemma":0.00614432,"domain_scores_codex":[0.9964226,0.001174882,0.0004229599,0.001185252,0.0005822785,0.0002119814],"domain_scores_gemma":[0.9895455,0.005484652,0.002574427,0.001434826,0.0005649118,0.00039566],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001083495,0.00004470735,0.9730915,0.0001854656,0.004007457,0.0008678533,0.0004620354,0.0006005865,0.007019232,0.0003846994,0.0007200907,0.01153285],"study_design_scores_gemma":[0.0001537306,0.00009443596,0.9926098,0.00003784807,0.001655462,0.001694795,0.0001453613,0.0008182667,0.0006194227,0.0009080592,0.00123791,0.00002501108],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9893696,0.004413399,0.00276311,0.0005890785,0.00003513476,0.00003486636,0.00174799,0.00006545248,0.0009813972],"genre_scores_gemma":[0.9968331,0.0006205408,0.001039911,0.0001646917,0.00004927082,0.00003443366,0.001018416,0.00003099888,0.0002086064],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005496873,"threshold_uncertainty_score":0.02478111,"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."}}