{"id":"W2616131888","doi":"10.1101/mcs.a001628","title":"Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline<i>CHEK2</i>:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma","year":2017,"lang":"en","type":"article","venue":"Molecular Case Studies","topic":"Ovarian cancer diagnosis and treatment","field":"Medicine","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"Abbotsford Veterinary Clinic; BC Cancer Agency; Canada's Michael Smith Genome Sciences Centre; University of British Columbia","funders":"BC Cancer Foundation; Canadian Institutes of Health Research; Terry Fox Foundation; BC Cancer Agency; Canada Research Chairs; Michael Smith Health Research BC","keywords":"Concomitant; CHEK2; Germline; Germline mutation; Sex organ; Invasive ductal carcinoma; Carcinoma; Biology; Pathology; Cancer research; Medicine; Oncology; Breast cancer; Internal medicine; Mutation; Gene; Cancer; Genetics","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001227002,0.0002137641,0.0006454944,0.0001443226,0.0001005969,0.00001638157,0.00005296787,0.00003020514,0.000004532295],"category_scores_gemma":[0.0001498767,0.0001655707,0.00007633231,0.000109929,0.0003188542,0.00007149796,0.0001019659,0.000082771,8.207858e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001027027,"about_ca_system_score_gemma":0.0001731774,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006466571,"about_ca_topic_score_gemma":0.0006661809,"domain_scores_codex":[0.9989159,0.00005313087,0.0003478558,0.0003131435,0.0001774166,0.0001925527],"domain_scores_gemma":[0.9989023,0.0001148056,0.0002968426,0.0003471453,0.000268111,0.00007077624],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005974786,0.0004653895,0.8956949,0.0009288934,0.001740082,0.08581965,0.003536415,0.00001724553,0.009839406,0.0001678137,0.000009547439,0.001183149],"study_design_scores_gemma":[0.01341069,0.003386122,0.8262057,0.001027902,0.002864404,0.03171013,0.00825253,0.0002092263,0.1123526,0.0001535702,0.000003459003,0.0004237542],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9898934,0.008686355,0.00001098615,0.00043055,0.00003558755,0.0008007615,0.00008084094,0.000006711003,0.00005485097],"genre_scores_gemma":[0.9972372,0.0002683873,0.002210404,0.00004079007,0.00001705047,0.0001833869,0.00001286024,0.00002565953,0.000004230625],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1025131,"threshold_uncertainty_score":0.6751778,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02943809218041461,"score_gpt":0.3015962004609867,"score_spread":0.2721581082805721,"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."}}