{"id":"W2113463873","doi":"10.1371/journal.pgen.1001183","title":"Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer","year":2010,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":163,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; Cancer Care Ontario; Mount Sinai Hospital; Women's College Hospital","funders":"Centre National de la Recherche Scientifique; Institut National de la Santé et de la Recherche Médicale; Institut Gustave-Roussy; National Cancer Institute; Cancer Research UK; Memorial Sloan-Kettering Cancer Center","keywords":"Penetrance; Breast cancer; Biology; Minor allele frequency; Single-nucleotide polymorphism; Genetics; Locus (genetics); Genome-wide association study; Allele; Hazard ratio; Cancer; Oncology; Internal medicine; Confidence interval; Genotype; Medicine; Gene; Phenotype","routes":{"ca_aff":true,"ca_fund":false,"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":[],"consensus_categories":[],"category_scores_codex":[0.00008107095,0.0001239962,0.0001735122,0.00004284185,0.00003742211,0.000007697581,0.0001950798,0.0001789194,0.00003906108],"category_scores_gemma":[0.00003197283,0.0001344784,0.00003854277,0.0001214599,0.0001821449,0.000002467721,0.00006407087,0.00009478531,9.258758e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001482827,"about_ca_system_score_gemma":0.0001493124,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004090521,"about_ca_topic_score_gemma":0.0003616802,"domain_scores_codex":[0.9990972,0.00003805902,0.0002961026,0.0002575872,0.0001586985,0.0001523602],"domain_scores_gemma":[0.9990478,0.00001440334,0.000219884,0.0004050648,0.0002579374,0.00005491448],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00002534276,0.0001190311,0.07074417,0.00004129806,0.00008646408,1.995263e-7,0.00008524015,0.000463275,0.9244322,0.00002198853,0.00009693862,0.003883822],"study_design_scores_gemma":[0.0003942226,0.00006989008,0.3484505,0.00001762602,0.00006262285,0.000007198269,0.00001553121,0.002444166,0.6481771,0.0001083313,0.0001296734,0.0001230789],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975285,0.001409058,0.0001470391,0.0001009785,0.0001518349,0.0001836744,0.0003025675,0.000006003909,0.000170331],"genre_scores_gemma":[0.9969554,0.0008380219,0.001927697,0.00004236744,0.00009143398,0.00002855319,0.00004174361,0.00002729412,0.00004751429],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2777063,"threshold_uncertainty_score":0.5483871,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01428596629639363,"score_gpt":0.2694328913230338,"score_spread":0.2551469250266402,"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."}}