{"id":"W2171887893","doi":"10.1158/2159-8290.cd-14-0212","title":"Rare Mutations in <i>RINT1</i> Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers","year":2014,"lang":"en","type":"article","venue":"Cancer Discovery","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":43,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital","funders":"National Institute of General Medical Sciences; National Cancer Institute; Canadian Institutes of Health Research; World Health Organization","keywords":"Lynch syndrome; Medicine; Breast cancer; Mutation; Genetics; Cancer research; Oncology; Bioinformatics; Internal medicine; Biology; Cancer; Gene; DNA mismatch repair; Colorectal cancer","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":[0.0003876178,0.0005876836,0.0003286281,0.0007916522,0.0002163366,0.0003710367,0.000392816,0.0004898804,0.00464304],"category_scores_gemma":[0.002274395,0.0001627162,0.000278559,0.0004681161,0.0003766799,0.0002109424,0.0002461706,0.0003257866,0.0004726109],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001309437,"about_ca_system_score_gemma":0.0001357759,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001361551,"about_ca_topic_score_gemma":0.0008222328,"domain_scores_codex":[0.9997283,0.00005997399,0.00003072428,0.0001035312,0.00004560419,0.00003185173],"domain_scores_gemma":[0.9984782,0.0003847365,0.0008849696,0.00006269554,0.00008595212,0.0001034321],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008361998,0.00006251044,0.9674646,0.0001003983,0.0001534905,0.004048879,0.000147556,0.0002805031,0.01310072,0.0001639748,0.000886082,0.01275509],"study_design_scores_gemma":[0.00005668844,0.0003211858,0.9584253,0.00008800692,0.000318327,0.03259284,0.0002158263,0.001360273,0.004169769,0.0003089842,0.002123171,0.0000196114],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9953804,0.001819497,0.0006337263,0.000170265,0.00002134915,0.00001474046,0.000447374,0.00008822677,0.001424345],"genre_scores_gemma":[0.9988359,0.0003273363,0.0004010517,0.00003937381,0.00003480636,0.000005118412,0.0002141265,0.000008370418,0.0001339581],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00464304,"threshold_uncertainty_score":0.01553255,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007652186678155154,"score_gpt":0.2542903076071637,"score_spread":0.2466381209290086,"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."}}