Next-generation sequencing (NGS) technology has expanded in the last decades with
significant improvements in the reliability, sequencing chemistry, pipeline analyses, data …

Background The best-known cause of intolerance to fluoropyrimidines is dihydropyrimidine
dehydrogenase (DPD) deficiency, which can result from deleterious polymorphisms in the …

Garrod's concept of 'chemical individuality'has contributed to comprehension of the
molecular origins of human diseases. Untargeted high-throughput metabolomic …

The purpose of this guideline is to provide information for the interpretation of clinical
dihydropyrimidine dehydrogenase (DPYD) genotype tests so that the results can be used to …

Background Fluoropyrimidine treatment can result in severe toxicity in up to 30% of patients
and is often the result of reduced activity of the key metabolic enzyme dihydropyrimidine …

Despite advances in the field of pharmacogenetics (PGx), clinical acceptance has remained
limited. The Dutch Pharmacogenetics Working Group (DPWG) aims to facilitate PGx …

The goals of the Association for Molecular Pathology (AMP) Clinical Practice Committee's
Pharmacogenomics (PGx) Working Group are to define the key attributes of …

Background Pathogenic variants of the DPYD gene are strongly associated with grade≥ 3
toxicity during fluoropyrimidine chemotherapy. We conducted a systematic review and meta …

Background: 5-Fluorouracil (FU) is one of the most commonly used cytostatic drugs in the
systemic treatment of cancer. Treatment with FU may cause severe or life-threatening side …

PURPOSE DPYD-guided fluoropyrimidine dosing improves patient safety in carriers of
DPYD variant alleles. However, the impact on treatment outcome in these patients is largely …