{"id":"W4389430627","doi":"10.1101/2023.12.06.23299442","title":"Association of <i>ESR1</i> germline variants with <i>TP53</i> somatic variants in breast tumors in a genome-wide study","year":2023,"lang":"en","type":"preprint","venue":"medRxiv","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Human Genome Research Institute; BC Cancer Agency; Instituto Nacional de Medicina Genómica; National Cancer Institute; Instituto Carlos Slim de la Salud; Cancer Research UK; Broad Institute; Pelotonia; Ohio State University","keywords":"Germline; Germline mutation; Breast cancer; Genetics; Biology; Somatic cell; Allele; Genome-wide association study; Mutation; Phenotype; 1000 Genomes Project; Genotype; Cancer; Single-nucleotide polymorphism; Gene","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001342185,0.0002718341,0.0003869075,0.0008228297,0.0004730564,0.0008327331,0.0004877193,0.0004897542,0.001169016],"category_scores_gemma":[0.002055126,0.0002177719,0.0008569873,0.001698121,0.0003677681,0.0002403026,0.0005732564,0.0004949987,0.0001518987],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001803938,"about_ca_system_score_gemma":0.0002302508,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003597304,"about_ca_topic_score_gemma":0.004537344,"domain_scores_codex":[0.9987851,0.0003178039,0.0001344097,0.0005234371,0.0001230548,0.0001161879],"domain_scores_gemma":[0.9978728,0.0007110839,0.0007262888,0.0002644231,0.0001775421,0.0002477146],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002300162,0.00001721307,0.9960783,0.00001879334,0.000553942,0.0001529768,0.00003613151,0.00008452211,0.001942254,0.00002322814,0.00007049113,0.0007920786],"study_design_scores_gemma":[0.00001528654,0.00006966502,0.9983034,0.000007389269,0.0003553749,0.0003677729,0.00005954561,0.0003280251,0.0002941783,0.0000305754,0.000165012,0.000003664972],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987558,0.0002800444,0.0002189336,0.00002276937,0.00000408457,0.000004827873,0.0005750194,0.000005272489,0.0001333365],"genre_scores_gemma":[0.9992452,0.00006031223,0.0001508133,0.00002077312,0.000005826885,0.000003988496,0.0004675867,0.000002671383,0.00004293086],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003597304,"threshold_uncertainty_score":0.007152736,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0125497748248,"score_gpt":0.257802253473447,"score_spread":0.245252478648647,"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."}}