Integrating rare genetic variants into DPYD pharmacogenetic testing may help preventing fluoropyrimidine-induced toxicity

• Published in: The pharmacogenomics journal Vol. 24; no. 1; p. 1
• Main Authors: Larrue, Romain, Fellah, Sandy, Hennart, Benjamin, Sabaouni, Naoual, Boukrout, Nihad, Van der Hauwaert, Cynthia, Delage, Clément, Cheok, Meyling, Perrais, Michaël, Cauffiez, Christelle, Allorge, Delphine, Pottier, Nicolas
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 12.01.2024; Nature Publishing Group
• Subjects: 45/23; 631/208/2489/1512; 692/53/2423; Biomedical and Life Sciences; Biomedicine; Chemotherapy; Clinical medicine; Decision making; Drug dosages; Drug metabolism; Enzymatic activity; Enzymes; Gene Expression; Genes; Genetic diversity; Genetic testing; Genomes; Genotype & phenotype; Human Genetics; Life Sciences; Metabolism; Next-generation sequencing; Oncology; Patients; Pharmacogenomics; Pharmacokinetics; Pharmacotherapy; Psychopharmacology; Splice junctions; Toxicity; Uracil

Variability in genes involved in drug pharmacokinetics or drug response can be responsible for suboptimal treatment efficacy or predispose to adverse drug reactions. In addition to common genetic variations, large-scale sequencing studies have uncovered multiple rare genetic variants predicted to ca...