Approach for Phased Sequence-Based Genotyping of the Critical Pharmacogene Dihydropyrimidine Dehydrogenase (DPYD)

• Published in: International journal of molecular sciences Vol. 25; no. 14; p. 7599
• Main Authors: Ambrodji, Alisa, Sadlon, Angélique, Amstutz, Ursula, Hoch, Dennis, Berger, Martin D., Bastian, Sara, Offer, Steven M., Largiadèr, Carlo R.
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 11.07.2024
• Subjects: Alleles; Dehydrogenases; Dihydrouracil Dehydrogenase (NADP) - genetics; Ethylenediaminetetraacetic acid; Genes; Genetic aspects; Genotype; Genotype & phenotype; Genotyping Techniques - methods; Haplotypes; High-Throughput Nucleotide Sequencing - methods; Humans; Neoplasms - genetics; Polymorphism, Single Nucleotide; Scientific equipment and supplies industry; Sequence Analysis, DNA - methods; Single nucleotide polymorphisms; Toxicity; United Kingdom; United States; Massachusetts; Germany; rare variants; Oxford Nanopore Technologies sequencing; haplotype; long-range amplicon; pharmacogenomics; DPYD; PCR chimera; fluoropyrimidines; compound heterozygous

Pre-treatment genotyping of four well-characterized toxicity risk-variants in the dihydropyrimidine dehydrogenase gene (DPYD) has been widely implemented in Europe to prevent serious adverse effects in cancer patients treated with fluoropyrimidines. Current genotyping practices are largely limited t...