{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004461292,0.0002266324,0.000564526,0.000361231,0.0001032875,0.00003879553,0.0002248773,0.0001556544,0.0001291601],"category_scores_gemma":[0.000164523,0.0002321636,0.00006274346,0.0009081704,0.0001552247,0.0003159648,0.0002695995,0.0003752569,0.0001242976],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000163266,"about_ca_system_score_gemma":0.0004445861,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002564165,"about_ca_topic_score_gemma":0.002065171,"domain_scores_codex":[0.9981925,0.000102513,0.000578521,0.0004866783,0.0002805955,0.0003591903],"domain_scores_gemma":[0.9990489,0.00008149882,0.0002423588,0.0003929912,0.00009306234,0.0001411516],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004507852,0.0008434841,0.5489414,0.001441044,0.001075488,0.002013897,0.01110216,0.02595349,0.3013567,0.008275449,0.002490413,0.09199853],"study_design_scores_gemma":[0.003819948,0.00026885,0.9753674,0.0006158564,0.00005724762,0.0001419977,0.00007543066,0.01184875,0.0006736345,0.0006829775,0.006139231,0.0003087106],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9886339,0.0005442299,0.0002388825,0.0005633356,0.0005443282,0.001463568,0.0001612001,0.00008897565,0.007761596],"genre_scores_gemma":[0.9967201,0.001083901,0.0004470515,0.000106313,0.00003866706,0.0001258509,0.000564311,0.00004768575,0.000866165],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4264259,"threshold_uncertainty_score":0.9467359,"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."}}