Mikhail SE, Sun JF, Marshall JL (2010) Safety of capecitabine: a review. Expert Opin Drug Saf 9:831–841. https://doi.org/10.1517/14740338.2010.511610

Article  PubMed  CAS  Google Scholar 

Sharma BB, Rai K, Blunt H, Zhao W et al (2021) Pathogenic DPYD Variants and Treatment-Related Mortality in Patients Receiving Fluoropyrimidine Chemotherapy: A Systematic Review and Meta-Analysis. Oncologist 26:1008–1016. https://doi.org/10.1002/onco.13967

Article  PubMed  PubMed Central  CAS  Google Scholar 

Arrivé C, Fonrose X, Thomas F et al (2023) Discrepancies between dihydropyrimidine dehydrogenase phenotyping and genotyping: What are the explanatory factors? Br J Clin Pharmacol 89:2446–2457. https://doi.org/10.1111/bcp.15715

Article  PubMed  CAS  Google Scholar 

Etienne-Grimaldi MC, Pallet N, Boige V et al (2023) Current diagnostic and clinical issues of screening for dihydropyrimidine dehydrogenase deficiency. Eur J Cancer 181:3–17. https://doi.org/10.1016/j.ejca.2022.11.028

Article  PubMed  CAS  Google Scholar 

Meulendijks D, Henricks LM, Jacobs BAW, Aliev A, Deenen MJ, de Vries N et al (2017) Pretreatment serum uracil concentration as a predictor of severe and fatal fluoropyrimidine-associated toxicity. Br J Cancer 116:1415–1424

Article  PubMed  PubMed Central  CAS  Google Scholar 

Amstutz U, Henricks LM, Offer SM et al (2018) Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and Fluoropyrimidine Dosing: 2017 Update. Clin Pharmacol Ther 103:210–216. https://doi.org/10.1002/cpt.911

Article  PubMed  CAS  Google Scholar 

Le Teuff G, Cozic N, Boyer JC et al (2024) Dihydropyrimidine dehydrogenase gene variants for predicting grade 4–5 fluoropyrimidine-induced toxicity: FUSAFE individual patient data meta-analysis. Br J Cancer 130:808–818. https://doi.org/10.1038/s41416-023-02517-2

Article  PubMed  CAS  Google Scholar 

de With M, Knikman J, de Man FM et al (2022) Dihydropyrimidine Dehydrogenase Phenotyping Using Pretreatment Uracil: A Note of Caution Based on a Large Prospective Clinical Study. Clin Pharmacol Ther 112:62–68. https://doi.org/10.1002/cpt.2608

Article  PubMed  PubMed Central  CAS  Google Scholar 

White C, Scott RJ, Paul C, Ziolkowski A, Mossman D, Ackland S (2021) Ethnic diversity of DPD activity and the DPYD gene: review of the literature. Pharmgenomics Pers Med.;14:1603–1617. https://doi.org/10.2147/PGPM.S337147.

Waters.https://www.waters.com/waters/fr.

Sophia Genetics™ Community Panel for Pharmacogenomics https://www.sophiagenetics.com. Sophia Genetics

Offer SM, Fossum CC, Wegner NJ et al (2014) Comparative functional analysis of DPYD variants of potential clinical relevance to dihydropyrimidine dehydrogenase activity. Cancer Res 74:2545–2554. https://doi.org/10.1158/0008-5472.CAN-13-2482

Article  PubMed  PubMed Central  CAS  Google Scholar 

Etienne-Grimaldi MC, Boyer JC, Beroud C et al (2017) New advances in DPYD genotype and risk of severe toxicity under capecitabine. PLoS ONE 12:e0175998. https://doi.org/10.1371/journal.pone.0175998

Article  PubMed  PubMed Central  CAS  Google Scholar 

van Kuilenburg ABP, Pleunis-van Empel MCH, Brouwer RB et al (2024) Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare DPYD Variants. JCO Precis Oncol 8:e2300599. https://doi.org/10.1200/PO.23.00599

Article  PubMed  Google Scholar 

Maillard M, Launay M, Royer B et al (2023) Quantitative impact of pre-analytical process on plasma uracil when testing for dihydropyrimidine dehydrogenase deficiency. Br J Clin Pharmacol 89(2):762–772. https://doi.org/10.1111/bcp.15536

Article  PubMed  CAS  Google Scholar 

HAS. Haute Autorité de Santé Methodes de recherche d’un déficit en dihydropyrimidine deshydrogenase visant a prévenir certaines toxicites sévères associées aux traitements incluant une fluoropyrimidine (5-fluorouracile ou capécitabine). https://www.has-sante.fr (accessed: March 23th 2024)

Picard N, Boyer JC, Etienne-Grimaldi MC et al (2017) Pharmacogenetics-based personalized therapy: Levels of evidence and recommendations from the French Network of Pharmacogenetics (RNPGx). Therapie 72:185–192. https://doi.org/10.1016/j.therap.2016.09.014

Article  PubMed  Google Scholar 

Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction of DPYD and fluoropyrimidines - PubMed. Accessed March 25 (2024) https://pubmed-ncbi-nlm-nih-gov.proxy.insermbiblio.inist.fr/31745289/

Chan TH, Zhang JE, Pirmohamed M (2023) DPYD genetic polymorphisms in non-European patients with severe fluoropyrimidine-related toxicity: A systematic review. Published online 11; 23299813. https://doi.org/10.1101/2023.12.11.23299813

Poumeaud F, Dalenc F, Mathevet Q et al (2023) Phenotype/Genotype Discrepancy of DPD Deficiency Screening in a Patient With Severe Capecitabine Toxicity: A Case Report. JCO Precis Oncol 7:e2200508. https://doi.org/10.1200/PO.22.00508

Article  PubMed  Google Scholar 

Pallet N, Hamdane S, Garinet S et al (2020) A comprehensive population-based study comparing the phenotype and genotype in a pretherapeutic screen of dihydropyrimidine dehydrogenase deficiency. Br J Cancer 123:811–818. https://doi.org/10.1038/s41416-020-0962-z

Article  PubMed  PubMed Central  CAS  Google Scholar 

Sheffield BS, Beharry A, Diep J et al (2022) Point of Care Molecular Testing: Community-Based Rapid Next-Generation Sequencing to Support Cancer Care. Curr Oncol 23:1326–1334. https://doi.org/10.3390/curroncol29030113

Article  Google Scholar 

Peruzzi E, Roncato R, De Mattia E et al (2023) Implementation of pre-emptive testing of a pharmacogenomic panel in clinical practice: Where do we stand? Br J Clin Pharmacol Published online November 5. https://doi.org/10.1111/bcp.15956

De Mattia E, Polesel J, Silvestri M et al (2023) The burden of rare variants in DPYS gene is a novel predictor of the risk of developing severe fluoropyrimidine-related toxicity. Hum Genomics 17:99. https://doi.org/10.1186/s40246-023-00546-9

Article  PubMed  PubMed Central  CAS  Google Scholar 

Larrue R, Fellah S, Hennart B et al (2024) Integrating rare genetic variants into DPYD pharmacogenetic testing may help preventing fluoropyrimidine-induced toxicity. Pharmacogenomics J 24:1. https://doi.org/10.1038/s41397-023-00322-x

Article  PubMed  PubMed Central  CAS  Google Scholar 

Knikman JE, Gelderblom H, Beijnen JH, Cats A, Guchelaar H, Henricks LM (2021) Individualized Dosing of Fluoropyrimidine-Based Chemotherapy to Prevent Severe Fluoropyrimidine‐Related Toxicity: What Are the Options? Clin Pharmacol Ther 109:591–604. https://doi.org/10.1002/cpt.2069

Article  PubMed  CAS  Google Scholar 

Lau DK, Fong C, Arouri F et al (2023) Impact of pharmacogenomic DPYD variant guided dosing on toxicity in patients receiving fluoropyrimidines for gastrointestinal cancers in a high-volume tertiary centre. BMC Cancer 23:380. https://doi.org/10.1186/s12885-023-10857-8

Article  PubMed  PubMed Central  CAS  Google Scholar