{"id":"W4292250334","doi":"10.1093/jnci/djac151","title":"Heterozygous <i>BRCA1</i> and <i>BRCA2</i> and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer","year":2022,"lang":"en","type":"review","venue":"JNCI Journal of the National Cancer Institute","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":50,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Helse Sør-Øst RHF; Canadian Institutes of Health Research; Deutsche Kinderkrebsstiftung; Norges Forskningsråd; Universitetet i Oslo; Bundesministerium für Bildung und Forschung; Terry Fox Research Institute; Brain Tumour Charity","keywords":"CHEK2; PALB2; PMS2; MLH1; MSH6; Odds ratio; Medicine; Cancer; Penetrance; Genetic testing; Oncology; MSH2; Internal medicine; Germline mutation; Confidence interval; Genetics; DNA mismatch repair; Colorectal cancer; Biology; Gene; Mutation","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":[0.003425628,0.0005452498,0.001153503,0.001671577,0.0003545272,0.001146956,0.0006473825,0.0007200673,0.001207099],"category_scores_gemma":[0.006463765,0.0005632607,0.003912431,0.002413243,0.0004668196,0.0003552499,0.000495625,0.000564449,0.00007948315],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004463864,"about_ca_system_score_gemma":0.0004396658,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004406327,"about_ca_topic_score_gemma":0.005098502,"domain_scores_codex":[0.997582,0.0008185231,0.0003833025,0.0007802242,0.0003257397,0.0001103168],"domain_scores_gemma":[0.994907,0.002914818,0.001510516,0.0003352473,0.0001962765,0.0001361866],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"systematic_review","study_design_scores_codex":[0.001353922,0.000020949,0.9733375,0.0006800464,0.01877494,0.0004040894,0.00007239743,0.0003461123,0.0005140383,0.00007773469,0.0002144961,0.004203691],"study_design_scores_gemma":[0.0003318248,0.0004705453,0.945376,0.0005776325,0.0484297,0.001719676,0.0001639916,0.0006243737,0.0006440362,0.0002559948,0.001390549,0.00001552736],"study_design_candidate":"systematic_review","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.9458275,0.05189511,0.0005688944,0.0001313298,0.0000583832,0.00003041608,0.0008982245,0.0000191583,0.0005708532],"genre_scores_gemma":[0.9944912,0.004589788,0.0003355853,0.00007478837,0.00002818816,0.00001869135,0.0003928299,0.000006694278,0.00006224398],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.004406327,"threshold_uncertainty_score":0.01811665,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04038119913751177,"score_gpt":0.3226068771107476,"score_spread":0.2822256779732359,"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."}}