{"id":"W4416410310","doi":"10.1016/j.annonc.2025.11.004","title":"Association between type and location of germline BRCA1/2 pathogenic or likely pathogenic variants with phenotype and prognosis in young patients with breast cancer: results from an international cohort study","year":2025,"lang":"en","type":"article","venue":"Annals of Oncology","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Jewish General Hospital","funders":"Cancer Council Queensland; Medical Research Council; Arts South Australia; Associazione Italiana per la Ricerca sul Cancro; National Institutes of Health; Cancer Australia; European Society for Medical Oncology; National Breast Cancer Foundation; National Health and Medical Research Council; Breast Cancer Research Foundation","keywords":"Germline; Breast cancer; Phenotype; Cohort study; Cohort; Germline mutation; Clinical phenotype; Cancer","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":[0.0005541262,0.0004608119,0.0004133378,0.0009133527,0.0007600753,0.0007669657,0.0004336551,0.0004896389,0.001861195],"category_scores_gemma":[0.001586063,0.000429024,0.0006098113,0.001401255,0.0003789385,0.0004974254,0.000507562,0.0007027381,0.000311871],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002564207,"about_ca_system_score_gemma":0.0003021888,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007554262,"about_ca_topic_score_gemma":0.007510571,"domain_scores_codex":[0.9996597,0.00007158006,0.00003175062,0.0001224923,0.0000472176,0.00006736764],"domain_scores_gemma":[0.9988772,0.0001992365,0.0003977472,0.0001257732,0.0001048001,0.0002952164],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001558767,0.00003459292,0.9983721,0.000003369634,0.00007022414,0.0001254175,0.0001710087,0.00002398338,0.0004718179,0.00001135525,0.00006207575,0.0004980967],"study_design_scores_gemma":[0.000007197807,0.0000790831,0.9990276,0.000002179088,0.00005222126,0.0003654398,0.000226862,0.00004959984,0.00007111695,0.00001455336,0.00009971428,0.000004519556],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991583,0.00007942762,0.00007724422,0.00001979746,0.000003951811,0.00000348508,0.0003736511,0.000002457667,0.000281716],"genre_scores_gemma":[0.9990652,0.00009417741,0.00008146615,0.00002170005,0.000007077189,0.00000595842,0.0004726996,0.000004924671,0.0002468624],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007554262,"threshold_uncertainty_score":0.01502061,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01835689600058008,"score_gpt":0.330272309185187,"score_spread":0.3119154131846069,"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."}}