{"id":"W2129093069","doi":"10.1186/bcr1338","title":"A common missense variant in BRCA2 predisposes to early onset breast cancer","year":2005,"lang":"en","type":"article","venue":"Breast Cancer Research","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"Coalition for Research in Women's Health; University of Toronto","funders":"","keywords":"Breast cancer; Missense mutation; Penetrance; Medicine; BRCA2 Protein; Oncology; Odds ratio; Internal medicine; Cancer; Surgical oncology; Allele; Family history; Genetics; Mutation; Biology; Germline mutation; Gene; Phenotype","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002804536,0.0006124405,0.0005556568,0.001503614,0.0004124585,0.0003053603,0.0003370098,0.0005794115,0.00418466],"category_scores_gemma":[0.00149401,0.0003115913,0.0003563126,0.00109241,0.0003212117,0.0001770758,0.0004644957,0.0003476619,0.0004409548],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001601382,"about_ca_system_score_gemma":0.000179665,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001196829,"about_ca_topic_score_gemma":0.001181719,"domain_scores_codex":[0.999648,0.00006224524,0.00004719786,0.0001264355,0.00007043953,0.00004569237],"domain_scores_gemma":[0.9991677,0.0002073635,0.0003911444,0.00006756271,0.00005869149,0.0001075446],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006286587,0.0001265361,0.9510747,0.00008188537,0.0002258424,0.02274738,0.0002501182,0.00011114,0.01858104,0.0001007866,0.0002705174,0.005801393],"study_design_scores_gemma":[0.00003725314,0.0002004969,0.9524845,0.00003159837,0.0001824832,0.04380965,0.000130143,0.0001932357,0.002049436,0.0001521958,0.0007194904,0.000009515705],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987245,0.0003880321,0.0002448246,0.0000327984,0.00001088736,0.00001069675,0.0001094539,0.00001900122,0.0004597596],"genre_scores_gemma":[0.9993626,0.0001477824,0.0001686922,0.00002352766,0.00001908543,0.000003250046,0.00009765539,0.000003996642,0.0001732865],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00418466,"threshold_uncertainty_score":0.0139991,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02985162993464681,"score_gpt":0.3761897948939584,"score_spread":0.3463381649593116,"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."}}