{"id":"W2162914317","doi":"10.1136/jmg.40.4.e51","title":"Absence of constitutional <i>H2AX</i> gene mutations in 101 hereditary breast cancer families","year":2003,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"DNA Repair Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"Coalition for Research in Women's Health","funders":"National Cancer Institute; Breast Cancer Research Foundation","keywords":"CHEK2; Breast cancer; Germline mutation; DNA repair; Cancer research; Ataxia-telangiectasia; Checkpoint Kinase 2; Genetics; Li–Fraumeni syndrome; DNA damage; Nonsense mutation; Germline; Biology; Mutation; Cancer syndrome; Cancer; BRCA2 Protein; Homologous recombination; Gene; DNA; Missense mutation","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":[0.0004955438,0.00009742585,0.000182817,0.00006866804,0.00002225116,0.000004514094,0.0002310905,0.0001802149,0.0001733121],"category_scores_gemma":[0.0002567995,0.00008584309,0.00007783066,0.0001158857,0.0004645603,0.000003813381,0.00004137142,0.0001762978,0.00000144295],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002197703,"about_ca_system_score_gemma":0.001009736,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001165917,"about_ca_topic_score_gemma":0.00003960912,"domain_scores_codex":[0.9985074,0.00008211398,0.0004912284,0.0001198461,0.0006419992,0.0001574],"domain_scores_gemma":[0.9992518,0.00002777867,0.0002009723,0.0001275382,0.0002254167,0.0001664445],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001681311,0.0007223148,0.03050627,0.00009761919,0.0002807239,0.0003923185,0.0002154228,0.005160347,0.9421998,0.003253289,0.004673423,0.01233031],"study_design_scores_gemma":[0.004789191,0.000842069,0.0173219,0.0004100528,0.0001130731,0.006036836,0.001025023,0.0007611795,0.9353878,0.002153401,0.03065637,0.0005030592],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9872612,0.004702904,0.006420724,0.0004524233,0.000631813,0.00006491065,0.00005528632,0.000001960647,0.0004087198],"genre_scores_gemma":[0.9897707,0.003557154,0.006049109,0.000290872,0.0002719412,0.000003081168,0.000007559214,0.000008205332,0.00004134297],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02598295,"threshold_uncertainty_score":0.350058,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009452145303281366,"score_gpt":0.2672615928609655,"score_spread":0.2578094475576841,"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."}}