Detection of relevant pharmacogenetic information through exome sequencing in oncology.

Autor:	Verdez S; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, 21000, France., Albuisson J; Platform of Transfer in Cancer Biology, Georges François Leclerc Cancer Center - UNICANCER, Dijon, 21000, France.; Genomic & Immunotherapy Medical Institute, Dijon, 21000, France., Duffourd Y; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, 21000, France., Boidot R; Platform of Transfer in Cancer Biology, Georges François Leclerc Cancer Center - UNICANCER, Dijon, 21000, France.; Genomic & Immunotherapy Medical Institute, Dijon, 21000, France.; Department of Tumour Biology & Pathology, Georges François Leclerc Cancer Center - UNICANCER, Dijon, 21000, France., Reda M; Platform of Transfer in Cancer Biology, Georges François Leclerc Cancer Center - UNICANCER, Dijon, 21000, France.; Department of Tumour Biology & Pathology, Georges François Leclerc Cancer Center - UNICANCER, Dijon, 21000, France.; Department of Medical Oncology, Georges François Leclerc Cancer Center - UNICANCER, 1 rue Professeur Marion, Dijon, 21000, France., Thauvin-Robinet C; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, 21000, France.; Genomic & Immunotherapy Medical Institute, Dijon, 21000, France.; Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs', Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, 21000, France., Fumet JD; Department of Medical Oncology, Georges François Leclerc Cancer Center - UNICANCER, 1 rue Professeur Marion, Dijon, 21000, France., Ladoire S; Department of Medical Oncology, Georges François Leclerc Cancer Center - UNICANCER, 1 rue Professeur Marion, Dijon, 21000, France., Nambot S; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, 21000, France.; Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs', Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, 21000, France., Callier P; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, 21000, France., Faivre L; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, 21000, France.; Genomic & Immunotherapy Medical Institute, Dijon, 21000, France.; Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs', Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, 21000, France., Ghiringhelli F; Platform of Transfer in Cancer Biology, Georges François Leclerc Cancer Center - UNICANCER, Dijon, 21000, France.; Genomic & Immunotherapy Medical Institute, Dijon, 21000, France.; Department of Tumour Biology & Pathology, Georges François Leclerc Cancer Center - UNICANCER, Dijon, 21000, France.; Department of Medical Oncology, Georges François Leclerc Cancer Center - UNICANCER, 1 rue Professeur Marion, Dijon, 21000, France., Picard N; Inserm U1248, Service de Pharmacologie et Toxicologie, Université de Limoges, CHU de Limoges, Limoges, 87000, France.
Jazyk:	angličtina
Zdroj:	Pharmacogenomics [Pharmacogenomics] 2022 Sep; Vol. 23 (14), pp. 759-770. Date of Electronic Publication: 2022 Aug 31.
DOI:	10.2217/pgs-2022-0085
Abstrakt:	Background: Germline sequencing of individual genomes can detect alleles responsible for adverse drug reactions (ADRs) in relation to chemotherapy, targeted agents, antiemetics or pain treatment. Materials & methods: To evaluate the interest of such pharmacogenetic information, the authors retrospectively analyzed genes known to have an impact on cancer therapy in a cohort of 445 solid cancers patients. Results: Six patients treated with 5-fluorouracil carrying one DPYD variant classified as 1A showed decreased drug mean clearance (p = 0.01). Regarding CYP2D6 , all patients (n = 5) with predicted CYP2D6 poor or ultra-rapid metabolizer status experienced adverse drug reactions related to opioid therapy. Conclusion: Genomic germline sequencing performed for theragnostic issues in patients with a solid tumor, can provide relevant information about common pharmacogenetic alleles.
Databáze:	MEDLINE
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