{"id":"W2780190865","doi":"10.1016/j.cancergen.2017.11.011","title":"Familial Esophageal Squamous Cell Carcinoma with damaging rare/germline mutations in KCNJ12/KCNJ18 and GPRIN2 genes","year":2017,"lang":"en","type":"article","venue":"Cancer Genetics","topic":"Cancer-related gene regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":25,"is_retracted":false,"has_abstract":false,"ca_institutions":"Canada's Michael Smith Genome Sciences Centre; BC Cancer Agency","funders":"Mashhad University of Medical Sciences","keywords":"Germline; Germline mutation; Esophageal squamous cell carcinoma; Gene; Basal cell; Cancer research; Genetics; Mutation; Biology; Carcinoma; Medicine; Pathology","routes":{"ca_aff":true,"ca_fund":false,"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":[0.00007182278,0.000211391,0.0001688819,0.00006658077,0.0002326537,0.00007591938,0.0002293147,0.000158019,0.00001255651],"category_scores_gemma":[0.00001540702,0.00021794,0.00003830521,0.00006539201,0.0002069126,0.000009375177,0.0001448947,0.000113666,0.000001904392],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006532713,"about_ca_system_score_gemma":0.0002433573,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004609856,"about_ca_topic_score_gemma":0.002758588,"domain_scores_codex":[0.9988492,0.00003155805,0.000218295,0.000467513,0.0001404536,0.0002930318],"domain_scores_gemma":[0.9990211,0.000008895729,0.0001618432,0.0005976716,0.0001064071,0.0001041058],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002346161,0.00007441425,0.552237,0.0001043322,0.000034727,0.00003964578,0.0004024952,0.02711725,0.3850052,0.0000146038,0.0003028564,0.03443285],"study_design_scores_gemma":[0.002731424,0.0002603198,0.5875489,0.00002274432,0.00007749294,0.000027782,0.0000827224,0.004625859,0.3999102,0.00003679402,0.00425148,0.000424298],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9870194,0.01125052,0.000569653,0.0001660956,0.0002925367,0.0002924438,0.00005296637,0.00001067947,0.0003456595],"genre_scores_gemma":[0.9966711,0.0009481729,0.00090108,0.00006254935,0.0005164426,0.00005990377,0.00009576573,0.00004594977,0.0006990625],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0353119,"threshold_uncertainty_score":0.8887335,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009669283200281398,"score_gpt":0.2564612632439573,"score_spread":0.2467919800436759,"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."}}