{"id":"W6902829384","doi":"10.7916/d8xk8fmr","title":"Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk","year":2013,"lang":"en","type":"article","venue":"Columbia Academic Commons (Columbia University)","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Norway Grants; Medical Research Council; lékařská fakulta Univerzity Karlovy; National Institutes of Health; Institut Català de la Salut; Ministero dello Sviluppo Economico; Istituto Oncologico Veneto; Clalit Health Services; Sahlgrenska Universitetssjukhuset; National Cancer Institute; Landspítali Háskólasjúkrahús; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Israel Cancer Association; Hungarian Scientific Research Fund; National Health and Medical Research Council; Ministério da Ciência, Tecnologia e Inovação; Jewish General Hospital; Andrew Sabin Family Foundation; Lunds Universitet; University of California, San Francisco; Ministero della Salute; Canadian Institutes of Health Research; University of California, Los Angeles; Cancerfonden; Cancer Australia; European Regional Development Fund; National Breast Cancer Foundation; Russian Foundation for Basic Research; Cancer Research UK; Breast Cancer Research Foundation; Generalitat de Catalunya; University of Chicago; McGill University; Univerzita Karlova v Praze; Canadian Breast Cancer Research Alliance; Uppsala Universitet; Memorial Sloan-Kettering Cancer Center; Instituto de Salud Carlos III; Ohio State University; Mayo Clinic","keywords":"Ovarian cancer; Breast cancer; Locus (genetics); Genome-wide association study; Population; Case-control study; Etiology; Lifetime risk","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000410281,0.0001872861,0.0002843273,0.0001706379,0.0004168829,0.0002049827,0.0003653119,0.0004312212,0.0001336037],"category_scores_gemma":[0.0003389838,0.0003161176,0.00005745705,0.0008286711,0.0001556917,0.00006942471,0.0002343189,0.0005726823,0.000004889975],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001294772,"about_ca_system_score_gemma":0.0003967445,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.0718574,"about_ca_topic_score_gemma":0.5950936,"domain_scores_codex":[0.9980798,0.0002877675,0.0003010795,0.0006288784,0.0002792815,0.0004231404],"domain_scores_gemma":[0.9986181,0.0001321643,0.0004182399,0.0003265348,0.0003546984,0.000150223],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00003101879,0.0001220917,0.9914992,0.000007515638,0.0003578545,0.000008396,0.0006217914,0.0004096409,0.002903396,0.000001147343,0.003387196,0.0006507893],"study_design_scores_gemma":[0.002964191,0.0001425764,0.991118,0.00003200003,0.0002139668,0.000004804019,0.00308968,0.0001509163,0.00005748718,0.00005511924,0.00179816,0.0003730807],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972286,0.0001307059,0.000148713,0.0003054322,0.0001150342,0.001151282,0.0002700607,0.00004195986,0.0006082337],"genre_scores_gemma":[0.9895301,0.0001427224,0.00005921078,0.00009106601,0.00005770172,0.00005892158,0.0001446219,0.00003849265,0.009877122],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5232362,"threshold_uncertainty_score":0.9999291,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008641334792965333,"score_gpt":0.2151973579093174,"score_spread":0.206556023116352,"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."}}