Page 227 - Personalised medicine of fluoropyrimidines using DPYD pharmacogenetics Carin Lunenburg

Evaluating the implementation of prospective DPYD genotyping
References
1. Rosmarin D, Palles C, Church D, et al. Genetic markers of toxicity from capecitabine and other fluorouracil-based regimens: investigation in the QUASAR2 study, systematic review, and meta- analysis. J Clin Oncol. 2014;32(10):1031-1039.
2. Toffoli G, Giodini L, Buonadonna A, et al. Clinical validity of a DPYD-based pharmacogenetic test to predict severe toxicity to fluoropyrimidines. Int J Cancer. 2015;137(12):2971-2980.
3. Offer SM, Fossum CC, Wegner NJ, Stuflesser AJ, Butterfield GL, Diasio RB. Comparative functional analysis of DPYD variants of potential clinical relevance to dihydropyrimidine dehydrogenase activity. Cancer Res. 2014;74(9):2545-2554.
4. Diasio RB, Harris BE. Clinical pharmacology of 5-fluorouracil. Clin Pharmacokinet. 1989;16(4):215- 237.
5. Heggie GD, Sommadossi JP, Cross DS, Huster WJ, Diasio RB. Clinical pharmacokinetics of 5-fluorouracil and its metabolites in plasma, urine, and bile. Cancer Res. 1987;47(8):2203-2206.
6. Terrazzino S, Cargnin S, Del RM, Danesi R, Canonico PL, Genazzani AA. DPYD IVS14+1G>A and
2846A>T genotyping for the prediction of severe fluoropyrimidine-related toxicity: a meta-
analysis. Pharmacogenomics. 2013;14(11):1255-1272.
7. van Kuilenburg AB, Haasjes J, Richel DJ, et al. Clinical implications of dihydropyrimidine 8
dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity:
identification of new mutations in the DPD gene. Clin Cancer Res. 2000;6(12):4705-4712.
8. Deenen MJ, Meulendijks D, Cats A, et al. Upfront Genotyping of DPYD*2A to Individualize
Fluoropyrimidine Therapy: A Safety and Cost Analysis. J Clin Oncol. 2016;34(3):227-234.
9. Meulendijks D, Henricks LM, Sonke GS, et al. Clinical relevance of DPYD variants c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: a systematic review and meta-analysis of individual patient data. Lancet Oncol. 2015;16(16):1639-
1650.
10. Deenen MJ, Tol J, Burylo AM, et al. Relationship between single nucleotide polymorphisms and
haplotypes in DPYD and toxicity and efficacy of capecitabine in advanced colorectal cancer. Clin
Cancer Res. 2011;17(10):3455-3468.
11. Lunenburg CATC, Henricks LM, Guchelaar HJ, et al. Prospective DPYD genotyping to reduce the
risk of fluoropyrimidine-induced severe toxicity: Ready for prime time. Eur J Cancer. 2016;54:40-
48.
12. Morel A, Boisdron-Celle M, Fey L, et al. Clinical relevance of different dihydropyrimidine
dehydrogenase gene single nucleotide polymorphisms on 5-fluorouracil tolerance. Mol Cancer
Ther. 2006;5(11):2895-2904.
13. van Staveren MC, Guchelaar HJ, van Kuilenburg ABP, Gelderblom H, Maring JG. Evaluation
of predictive tests for screening for dihydropyrimidine dehydrogenase deficiency.
Pharmacogenomics J. 2013;13(5):389-395.
14. Henricks LM, Lunenburg CATC, Meulendijks D, et al. Translating DPYD genotype into DPD
phenotype: using the DPYD gene activity score. Pharmacogenomics. 2015;16(11):1277-1286.
15. CPIC. Clinical Pharmacogenetics Implementation Consortium. 2015; https://www.pharmgkb.
org/page/cpic
225