{"id":"W2094624574","doi":"10.1159/000053354","title":"Mutation Analysis of a Mauritian Hereditary Breast Cancer Family Reveals the &lt;i&gt;BRCA2&lt;/i&gt; 6503delTT Mutation Previously Found to Recur in Different Ethnic Populations","year":2001,"lang":"en","type":"article","venue":"Human Heredity","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Hotel Dieu Hospital; Montreal General Hospital","funders":"National Cancer Institute; Mauritius Research Council","keywords":"Haplotype; Mutation; Genetics; Population; Founder effect; Ethnic group; Breast cancer; Biology; Incidence (geometry); Cancer; Demography; Allele; Gene","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0004569383,0.0002897302,0.0004029311,0.0003194236,0.0002170969,0.00003698734,0.0003529872,0.0002251516,0.0002279535],"category_scores_gemma":[0.0000886351,0.0002574081,0.0002190253,0.001139942,0.0001331549,0.00002369234,0.0001096253,0.0001676633,0.000006163534],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003722624,"about_ca_system_score_gemma":0.0001489625,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006855416,"about_ca_topic_score_gemma":0.05173345,"domain_scores_codex":[0.9975632,0.0003080998,0.0007199588,0.0006253956,0.0003986533,0.0003846271],"domain_scores_gemma":[0.9984606,0.00004768621,0.0003008292,0.0007416803,0.0003280997,0.000121143],"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":[0.0007979086,0.001528526,0.1111942,0.000300957,0.00335187,0.0001185493,0.007905386,0.1280286,0.6543916,0.001529021,0.04740454,0.04344889],"study_design_scores_gemma":[0.0006605171,0.0001655709,0.9935597,0.00007185816,0.0005801769,0.00002906505,0.0002376359,0.001182501,0.0008391392,0.0008958167,0.001448051,0.0003299836],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9941071,0.001973515,0.001235037,0.0007051319,0.0004129428,0.0007658495,0.0003497774,0.00002486281,0.0004257435],"genre_scores_gemma":[0.9966534,0.0002038671,0.0002986996,0.0003056251,0.0007177563,0.0003884113,0.001027617,0.00004033608,0.0003642791],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8823655,"threshold_uncertainty_score":0.9999878,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04382407367131747,"score_gpt":0.3325247121818634,"score_spread":0.2887006385105459,"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."}}