{"id":"W1839131225","doi":"10.1093/hmg/ddv251","title":"<i>FANCM</i>c.5791C&gt;T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor","year":2015,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":96,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"National Cancer Institute; National Institutes of Health; Unicancer; Svenska Läkaresällskapet; Canadian Cancer Society; Ligue Contre le Cancer; Associazione Italiana per la Ricerca sul Cancro; Cancerfonden; Fundación Ramón Areces; Natural Sciences and Engineering Research Council of Canada; Breast Cancer Research Foundation","keywords":"Biology; Breast cancer; Nonsense mutation; Genetics; Odds ratio; Mutation; Cancer; Genotyping; Exon; Genotype; Oncology; Internal medicine; Gene; Medicine; Missense mutation","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":[0.002262828,0.0008250134,0.001040821,0.001011996,0.000341981,0.0004952318,0.0003326972,0.0005391827,0.002434209],"category_scores_gemma":[0.003727677,0.0001678554,0.002069566,0.001227041,0.0005623968,0.0001909244,0.0002798628,0.0004502134,0.0001892645],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005888273,"about_ca_system_score_gemma":0.000379741,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004768501,"about_ca_topic_score_gemma":0.006374914,"domain_scores_codex":[0.9982027,0.0006367599,0.0002033868,0.0006011389,0.0002550896,0.0001008991],"domain_scores_gemma":[0.997781,0.001240996,0.0007401761,0.00009906846,0.00007637639,0.00006238203],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0072976,0.0001657094,0.7752355,0.00280426,0.03030305,0.005831906,0.0001660964,0.006304092,0.08983706,0.002007069,0.005189439,0.07485824],"study_design_scores_gemma":[0.001542171,0.001177648,0.9223283,0.0005514355,0.01585828,0.01224761,0.00007779725,0.00800009,0.02357767,0.003705974,0.01083215,0.0001008585],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9561515,0.0297336,0.004997103,0.001044758,0.0002979302,0.0001164957,0.004093549,0.0001690192,0.003395952],"genre_scores_gemma":[0.9963678,0.001312687,0.001009733,0.0002513413,0.0000608619,0.00002503759,0.0007455734,0.00001229645,0.0002147781],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004768501,"threshold_uncertainty_score":0.01196712,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02705216080459242,"score_gpt":0.3000258186029424,"score_spread":0.27297365779835,"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."}}