{"id":"W7010077548","doi":"","title":"Heritable TP53-related cancer syndrome in Sweden : characterisation of genotype-phenotype correlation and surveillance","year":2023,"lang":"en","type":"article","venue":"Open Archive (Karolinska Institutet)","topic":"Cancer-related Molecular Pathways","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Li–Fraumeni syndrome; Cancer; Breast cancer; Germline mutation; Cancer syndrome; Germline; Genetic testing; BRCA2 Protein; Cohort; Disease","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0004476979,0.0006496084,0.0006148454,0.003117042,0.0005092206,0.001229395,0.0004833402,0.0006601879,0.001347373],"category_scores_gemma":[0.001906107,0.0004399859,0.000557453,0.001854792,0.0004474577,0.0002605263,0.000806485,0.0004654502,0.0006631204],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003961624,"about_ca_system_score_gemma":0.0004882579,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005812405,"about_ca_topic_score_gemma":0.002244252,"domain_scores_codex":[0.9992786,0.0001349182,0.0001103458,0.0001904216,0.0001489721,0.0001367627],"domain_scores_gemma":[0.9993399,0.0001616156,0.0001557909,0.00005859629,0.0001638111,0.000120286],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000573351,0.0001935527,0.9349347,0.0001257351,0.0001466019,0.02292897,0.00253064,0.0003129126,0.009584966,0.0003681934,0.001037415,0.02726298],"study_design_scores_gemma":[0.00003649533,0.0004076051,0.9428599,0.00009820519,0.0001588775,0.04734136,0.001444935,0.0005657455,0.001692661,0.0003540666,0.005007753,0.00003229652],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950171,0.002201487,0.0005045591,0.00008445678,0.00002553293,0.00002497497,0.0005244086,0.00003303545,0.001584442],"genre_scores_gemma":[0.996582,0.001281254,0.0003859298,0.00005512472,0.00002690585,0.0000284858,0.0007907899,0.00002147307,0.0008282011],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005812405,"threshold_uncertainty_score":0.01155716,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0253346357929857,"score_gpt":0.294913945536956,"score_spread":0.2695793097439703,"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."}}