{"id":"W2604602906","doi":"10.1158/1557-3125.dnarepair16-a44","title":"Abstract A44: The identification of germline mutations in DNA repair genes in Brazilian individuals at-risk for hereditary breast cancer","year":2017,"lang":"en","type":"article","venue":"Molecular Cancer Research","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"PALB2; CHEK2; Breast cancer; MLH1; MSH6; Germline mutation; CDH1; Cancer; PTEN; Biology; Gene; Genetics; Mutation; Cancer research; DNA repair; DNA mismatch repair","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":[0.001827288,0.0001498811,0.0001780738,0.0001921069,0.0004022111,0.00006269829,0.0007222513,0.0001706321,0.00006805092],"category_scores_gemma":[0.0003595897,0.0001371573,0.0001167899,0.0002408544,0.0004408542,0.00001822125,0.0002759553,0.0002528034,0.000003816404],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003491379,"about_ca_system_score_gemma":0.0007385619,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006263597,"about_ca_topic_score_gemma":0.02131584,"domain_scores_codex":[0.997883,0.0001931055,0.0005220512,0.000541851,0.0004421896,0.000417755],"domain_scores_gemma":[0.9980527,0.0000677365,0.0002988261,0.001085671,0.0004364831,0.00005855104],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0002034308,0.0001133911,0.1138345,0.0001073285,0.0001446275,0.00001084678,0.000355179,0.005935144,0.8624061,0.00004119903,0.002177211,0.01467111],"study_design_scores_gemma":[0.0009435439,0.0000441411,0.5524709,0.00006389669,0.00002299344,0.000004912662,0.0001670583,0.0004658948,0.4416983,0.0005000334,0.003456118,0.0001621561],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9891169,0.005423894,0.0001187515,0.002810876,0.0001954914,0.0009684387,0.001252239,0.000007044659,0.0001063764],"genre_scores_gemma":[0.9959278,0.001346958,0.000207317,0.00005660136,0.0002175055,0.001794918,0.0001578835,0.00004220921,0.0002488848],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4386365,"threshold_uncertainty_score":0.9965426,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03775422833365553,"score_gpt":0.3990595441289189,"score_spread":0.3613053157952634,"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."}}