{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00006498155,0.0002388059,0.0002282445,0.000686522,0.0002806396,0.0002802994,0.0001301876,0.000525682,0.0008399184],"category_scores_gemma":[0.0004633198,0.0001712492,0.0001755093,0.0003629764,0.0001730481,0.00009908618,0.0002877043,0.0002862528,0.0002709667],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001645186,"about_ca_system_score_gemma":0.00009791267,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001512559,"about_ca_topic_score_gemma":0.00165693,"domain_scores_codex":[0.9998987,0.00001240695,0.000007050502,0.00003483599,0.00002637407,0.00002069441],"domain_scores_gemma":[0.9998389,0.00004830728,0.0000304593,0.000009688528,0.00002611386,0.00004642893],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0008446489,0.0001140586,0.4035906,0.0001284322,0.00009424928,0.2324336,0.001233508,0.0007447861,0.340634,0.0001795282,0.001382053,0.01862049],"study_design_scores_gemma":[0.00001854305,0.0006091344,0.7238157,0.00003620823,0.0001605056,0.2329574,0.001106167,0.00238752,0.03440009,0.0002849356,0.004195558,0.00002828837],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973923,0.000351222,0.000636916,0.000220207,0.000009509193,0.00001234637,0.0006277798,0.00004203791,0.0007077046],"genre_scores_gemma":[0.9981424,0.000211721,0.0006708381,0.000137537,0.00001299308,0.00000676946,0.0004731423,0.0000133479,0.0003313945],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001512559,"threshold_uncertainty_score":0.003007591,"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."}}