DPYD genotyping recommendations: a joint consensus recommendation of the association for molecular pathology, American college of medical genetics and …

VM Pratt, LH Cavallari, ML Fulmer, A Gaedigk… - The Journal of Molecular …, 2024 - Elsevier
The goals of the Association for Molecular Pathology (AMP) Clinical Practice Committee's
Pharmacogenomics (PGx) Working Group are to define the key attributes of …

Challenges and opportunities associated with rare-variant pharmacogenomics

Y Zhou, R Tremmel, E Schaeffeler, M Schwab… - Trends in …, 2022 - cell.com
Recent advances in next-generation sequencing (NGS) have resulted in the identification of
tens of thousands of rare pharmacogenetic variations with unknown functional effects …

Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene–drug interaction of DPYD and fluoropyrimidines

CATC Lunenburg, CH van der Wouden… - European Journal of …, 2020 - nature.com
Despite advances in the field of pharmacogenetics (PGx), clinical acceptance has remained
limited. The Dutch Pharmacogenetics Working Group (DPWG) aims to facilitate PGx …

[HTML][HTML] Rare genetic variant burden in DPYD predicts severe fluoropyrimidine-related toxicity risk

E De Mattia, M Silvestri, J Polesel, F Ecca… - Biomedicine & …, 2022 - Elsevier
Preemptive targeted pharmacogenetic testing of candidate variations in DPYD is currently
being used to limit toxicity associated with fluoropyrimidines. The use of innovative next …

Applying next-generation sequencing platforms for pharmacogenomic testing in clinical practice

A Tafazoli, HJ Guchelaar, W Miltyk… - Frontiers in …, 2021 - frontiersin.org
Pharmacogenomics (PGx) studies the use of genetic data to optimize drug therapy.
Numerous clinical centers have commenced implementing pharmacogenetic tests in clinical …

Testing for dihydropyrimidine dehydrogenase deficiency to individualize 5-fluorouracil therapy

RB Diasio, SM Offer - Cancers, 2022 - mdpi.com
Simple Summary 5-Fluorouracil (5-FU) is a chemotherapy drug that is commonly used to
treat multiple cancers. Many people who are treated with 5-FU experience severe toxicity to …

Assessment of the Clinical Utility of Pretreatment DPYD Testing for Patients Receiving Fluoropyrimidine Chemotherapy

DL Hertz - Journal of Clinical Oncology, 2022 - ascopubs.org
PURPOSE Patients who carry pathogenic variants in DPYD have higher systemic
fluoropyrimidine (FP) concentrations and greater risk of severe and fatal FP toxicity …

Clinical implementation of rare and novel DPYD variants for personalizing fluoropyrimidine treatment: challenges and opportunities

E De Mattia, N Milan, YG Assaraf… - … Journal of Biological …, 2024 - pmc.ncbi.nlm.nih.gov
Fluoropyrimidines (FLs)[5-Fluorouracil, Capecitabine] are used in the treatment of several
solid tumors. Dihydropyrimidine dehydrogenase (DPD) is the rate-limiting enzyme for FL …

[HTML][HTML] Functional effects of protein variants

M Vihinen - Biochimie, 2021 - Elsevier
Genetic and other variations frequently affect protein functions. Scientific articles can contain
confusing descriptions about which function or property is affected, and in many cases the …

Population-scale predictions of DPD and TPMT phenotypes using a quantitative pharmacogene-specific ensemble classifier

Y Zhou, C Dagli Hernandez, VM Lauschke - British Journal of Cancer, 2020 - nature.com
Background Inter-individual differences in dihydropyrimidine dehydrogenase (DPYD
encoding DPD) and thiopurine S-methyltransferase (TPMT) activity are important predictors …