{"id":"W4411569309","doi":"10.1111/cge.14784","title":"<i>PMS2</i> <scp>c.2117del</scp> ( <scp>p.Lys706Serfs*19</scp> ) is the Most Frequent Cancer‐Associated Founder Pathogenic Variant in the French‐Canadian Population of Quebec, Canada","year":2025,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Mycobacterium research and diagnosis","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Université Laval; McGill University Health Centre; Centre Hospitalier Universitaire de Sherbrooke; Centre Hospitalier de l’Université de Montréal; McGill University; Jewish General Hospital","funders":"Canadian Institutes of Health Research; Merck Canada; McGill University Health Centre; McGill University; Institut de recherche, Centre universitaire de santé McGill","keywords":"Founder effect; Genetics; PMS2; Cancer; Biology; Population; Medicine; Gerontology; Mutation; Gene; Haplotype; Genotype; Germline mutation; Environmental health","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.001484224,0.0003009596,0.0006466288,0.0001658391,0.0002210886,0.00008171161,0.0006784529,0.0003932752,0.00007906548],"category_scores_gemma":[0.009641684,0.0002044952,0.0002483853,0.001213738,0.0002134727,0.00004188403,0.0001255699,0.000855103,0.00001072605],"about_ca_system_candidate":true,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000799385,"about_ca_system_score_gemma":0.007291072,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9778934,"about_ca_topic_score_gemma":0.998049,"domain_scores_codex":[0.995751,0.0007134583,0.001286842,0.0005357123,0.0008306321,0.0008823999],"domain_scores_gemma":[0.9925354,0.005127329,0.0003173755,0.0009949798,0.0004180581,0.0006068328],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00000666251,0.0002519327,0.7103738,0.00007692427,0.0002463346,0.0001221563,0.0003664426,0.00007979076,0.0001369154,0.0001381026,0.284771,0.003429892],"study_design_scores_gemma":[0.001285459,0.000152159,0.934785,0.0001721231,0.000264834,0.000005747702,0.0005133716,0.0007864322,0.0001689844,0.0007479533,0.06106351,0.00005440466],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9820625,0.003487868,0.00002671365,0.009684489,0.0008122423,0.001134432,0.0004406808,0.0000189771,0.002332151],"genre_scores_gemma":[0.9735352,0.003190286,0.00008130672,0.02033362,0.0002871282,0.0001303542,0.0002317862,0.0000322738,0.002178054],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2244112,"threshold_uncertainty_score":0.9987005,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03751010228527363,"score_gpt":0.3354984952759402,"score_spread":0.2979883929906666,"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."}}