DPYD and TYMS polymorphisms as predictors of 5 fluorouracil toxicity in colorectal cancer patients

References

• Ferlay J, Soerjomataram I, Ervik M, et al. Lyon, France: international agency for research on cancer; 2013. Cancer Incidence and Mortality Worldwide: IARC Cancer Base. 2012;(11)
   Google Scholar
• Meyerhardt JA, Mayer RJ. Systemic therapy for colorectal cancer. N Engl J Med. 2005;352(5):476–487.
   PubMed Web of Science ®Google Scholar
• Johnson MR, Diasio RB. Importance of dihydropyrimidine dehydrogenase (DPD) deficiency in patients exhibiting toxicity following treatment with 5-fluorouracil. Adv Enzyme Regul. 2001;41(1):151–157.
   PubMedGoogle Scholar
• Froehlich TK, Amstutz U, Aebi S, et al. Clinical importance of risk variants in the dihydropyrimidine dehydrogenase gene for the prediction of early‐onset fluoropyrimidine toxicity. Int J Cancer. 2015;136(3):730–739.
   PubMed Web of Science ®Google Scholar
• Terrazzino S, Cargnin S, Del Re M, et al. 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Swen J, Nijenhuis M, de Boer A, et al. Pharmacogenetics: from bench to byte—an update of guidelines. Clin Pharmacol Ther. 2011;89(5):662–673.
   PubMed Web of Science ®Google Scholar
• EMA recommendations on DP D testing prior to treatment with fluorouracil, capecitabine, tegafur and flucytosine. (2020, April 30). European Medicines Agency. Retrieved September 19, 2022, from https://www.ema.europa.eu/en/news/emarecommendations-dpd-testing-prior-treatment-fluorouracil-capecitabine-tegafur-flucytosine
   Google Scholar
• Ntavatzikos A, Spathis A, Patapis P, et al. Integrating TYMS, KRAS and BRAF testing in patients with metastatic colorectal cancer. WJG. 2017;23(32):5913.
   PubMed Web of Science ®Google Scholar
• Pullarkat S, Stoehlmacher J, Ghaderi V, et al. Thymidylate synthase gene polymorphism determines response and toxicity of 5-FU chemotherapy. Pharmacogenomics J. 2001;1(1):65–70.
   PubMedGoogle Scholar
• Saif MW. Capecitabine-induced cerebellar toxicity and TYMS pharmacogenetics. Anticancer Drugs. 2019;30(4):431–434.
   PubMed Web of Science ®Google Scholar
• Choi J, Kong K, Mozaffar T, et al. Delayed oxaliplatin-associated neurotoxicity following adjuvant chemotherapy for stage III colon cancer. Anticancer Drugs. 2006;17(1):103–105.
   PubMed Web of Science ®Google Scholar
• Gamelin L, Boisdron-Celle M, Morel A, et al. Oxaliplatin-related neurotoxicity: interest of calcium-magnesium infusion and no impact on its efficacy. J Clin Oncol. 2008;26(7):1188–1189.
   PubMed Web of Science ®Google Scholar
• IBM SPSS Statistics for Windows [Computer Software]. Version 20.0. Armonk, NY, USA: IBM.Corp; 2011.
   Google Scholar
• Diarrhées provoquées par les traitements systémiques anticancéreux. (n.d.). Revue Medicale Suisse. Retrieved September 19, 2022, from https://www.revmed.ch/revuemedicale-suisse/2016/revue-medicale-suisse-529/diarrhees-provoquees-par-les-traitementssystemiques-anticancereux
   Google Scholar
• Sonis ST, Elting LS, Keefe D, International Society for Oral Oncology, et al. Perspectives on cancer therapy‐induced mucosal injury: pathogenesis, measurement, epidemiology, and consequences for patients. Cancer: Interdiscip Int J Am Cancer Soc. 2004;100(9 Suppl):1995–2025.
   Google Scholar
• McCarthy G, Awde J, Ghandi H, et al. Risk factors associated with mucositis in cancer patients receiving 5-fluorouracil. Oral Oncol. 1998;34(6):484–490.
   PubMed Web of Science ®Google Scholar
• Naidu MUR, Ramana GV, Rani PU, et al. Chemotherapy-induced and/or radiation therapy-induced oral mucositis-complicating the treatment of cancer. Neoplasia. 2004;6(5):423–431.
   PubMed Web of Science ®Google Scholar
• Boisdron-Celle M, Remaud G, Traore S, et al. 5-Fluorouracil-related severe toxicity: a comparison of different methods for the pretherapeutic detection of dihydropyrimidine dehydrogenase deficiency. Cancer Lett. 2007;249(2):271–282.
   PubMed Web of Science ®Google Scholar
• www.unitheque.com. (n.d.). Pharmacie Clinique Pratique en Oncologie. Unithèque. Retrieved September 19, 2022, from https://www.unitheque.com/pharmacie-cliniquepratique-oncologie/hors-collection/elsevier-masson/Livre/334014
   Google Scholar
• Lecomte T, Ferraz J-M, Zinzindohoué F, et al. Thymidylate synthase gene polymorphism predicts toxicity in colorectal cancer patients receiving 5-fluorouracil-based chemotherapy. Clin Cancer Res. 2004;10(17):5880–5888.
   PubMed Web of Science ®Google Scholar
• Goetz MP, Ames MM, Weinshilboum RM. Primer on medical genomics: part XII: pharmacogenomics—general principles with cancer as a model. Mayo Clin Proc. 2004;79(3):376–384.
   PubMed Web of Science ®Google Scholar
• Van Kuilenburg A, Meinsma R, Van Gennip A. Pyrimidine degradation defects and severe 5‐fluorouracil toxicity. Nucleosides Nucleotides Nucleic Acids. 2004;23(8-9):1371–1375.
   PubMed Web of Science ®Google Scholar
• Meinsma R, Fernandez-Salguero P, Van Kuilenburg A, et al. Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea. DNA Cell Biol. 1995;14(1):1–6.
   PubMed Web of Science ®Google Scholar
• Fredj RB, Gross E, Chouchen L, et al. Mutational spectrum of dihydropyrimidine dehydrogenase gene (DPYD) in the tunisian population. C R Biol. 2007;330(10):764–769.
   PubMed Web of Science ®Google Scholar
• Ciccolini J, Mercier C, Evrard A, et al. A rapid and inexpensive method for anticipating severe toxicity to fluorouracil and fluorouracil-based chemotherapy. Ther Drug Monit. 2006;28(5):678–685.
   PubMed Web of Science ®Google Scholar
• Van Cutsem E, Nowacki M, Lang I, et al. Randomized phase III study of irinotecan and 5-FU/FA with or without cetuximab in the first-line treatment of patients with metastatic colorectal cancer (mCRC): the CRYSTAL trial. JCO. 2007;25(18_suppl):4000–4000.
   Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Offer SM, Wegner NJ, Fossum C, et al. Phenotypic profiling of DPYD variations relevant to 5-fluorouracil sensitivity using real-time cellular analysis and in vitro measurement of enzyme activity. Cancer Res. 2013;73(6):1958–1968.
   PubMed Web of Science ®Google Scholar
• Cunningham, F., Allen, J. E., Allen, J., Alvarez-Jarreta, J., Amode, M. R., Armean, I. M., ˙˙˙ &Flicek, P. Ensembl 2022. Nucleic acids research. 2022;50(D1):D988-D995.
   Google Scholar
• van Kuilenburg AB, Meijer J, Mul AN, et al. Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity. Hum Genet. 2010;128(5):529–538.
   PubMed Web of Science ®Google Scholar
• Meulendijks D, Henricks LM, van Kuilenburg AB, et al. Patients homozygous for DPYD c. 1129-5923C > G/haplotype B3 have partial DPD deficiency and require a dose reduction when treated with fluoropyrimidines. Cancer Chemother Pharmacol. 2016;78(4):875–880.
   PubMed Web of Science ®Google Scholar
• Marsh S. Thymidylate synthase pharmacogenetics. Invest New Drugs. 2005;23(6):533–537.
   PubMed Web of Science ®Google Scholar
• Chaabane S, Marzouk S, Akrout R, et al. Genetic determinants of methotrexate toxicity in tunisian patients with rheumatoid arthritis: a study of polymorphisms involved in the MTX metabolic pathway. Eur J Drug Metab Pharmacokinet. 2016;41(4):385–393.
   PubMed Web of Science ®Google Scholar
• De Bock C, Garg M, Scott N, et al. Association of thymidylate synthase enhancer region polymorphisms with thymidylate synthase activity in vivo. Pharmacogenomics J. 2011;11(4):307–314.
   PubMed Web of Science ®Google Scholar
• Mandola MV, Stoehlmacher J, Muller-Weeks S, et al. A novel single nucleotide polymorphism within the 5′ tandem repeat polymorphism of the thymidylate synthase gene abolishes USF-1 binding and alters transcriptional activity. Cancer Res. 2003;63(11):2898–2904.
   PubMed Web of Science ®Google Scholar
• Ulrich CM, Bigler J, Velicer CM, et al. Searching expressed sequence tag databases: discovery and confirmation of a common polymorphism in the thymidylate synthase gene. Cancer Epidemiol Prev Biomarkers. 2000;9(12):1381–1385.
   PubMed Web of Science ®Google Scholar
• Mandola MV, Stoehlmacher J, Zhang W, et al. A 6 bp polymorphism in the thymidylate synthase gene causes message instability and is associated with decreased intratumoral TS mRNA levels. Pharmacogenet Genomics. 2004;14(5):319–327.
   Google Scholar
• Falvella FS, Cheli S, Martinetti A, et al. DPD and UGT1A1 deficiency in colorectal cancer patients receiving triplet chemotherapy with fluoropyrimidines, oxaliplatin and irinotecan. Br J Clin Pharmacol. 2015;80(3):581–588.
   PubMed Web of Science ®Google Scholar
• Gross E, Busse B, Riemenschneider M, et al. Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients. PLoS One. 2008;3(12):e4003.
   PubMed Web of Science ®Google Scholar
• Collie-Duguid E, Etienne M, Milano G, et al. Known variant DPYD alleles do not explain DPD deficiency in cancer patients. Pharmacogenet Genomics. 2000;10(3):217–223.
   Google Scholar
• Ezzeldin HH, Lee AM, Mattison LK, et al. Methylation of the DPYD promoter: an alternative mechanism for dihydropyrimidine dehydrogenase deficiency in cancer patients. Clin Cancer Res. 2005;11(24 Pt 1):8699–8705.
   PubMed Web of Science ®Google Scholar
• van Kuilenburg AB, Häusler P, Schalhorn A, et al. Evaluation of 5-fluorouracil pharmacokinetics in cancer patients with a c. 1905 + 1G > a mutation in DPYD by means of a bayesian limited sampling strategy. Clin Pharmacokinet. 2012;51(3):163–174.
   PubMed Web of Science ®Google Scholar
• Offer SM, Fossum CC, Wegner NJ, et al. Comparative functional analysis of DPYD variants of potential clinical relevance to dihydropyrimidine dehydrogenase activity. Cancer Res. 2014;74(9):2545–2554.
   PubMed Web of Science ®Google Scholar
• Henricks LM, Lunenburg CA, Meulendijks D, et al. Translating DPYD genotype into DPD phenotype: using the DPYD gene activity score. Pharmacogenomics. 2015;16(11):1275–1284.
   Web of Science ®Google Scholar
• Heggie GD, Sommadossi J-P, Cross DS, et al. Clinical pharmacokinetics of 5-fluorouracil and its metabolites in plasma, urine, and bile. Cancer Res. 1987;47(8):2203–2206.
   PubMed Web of Science ®Google Scholar
• Lee AM, Shi Q, Pavey E, et al. DPYD variants as predictors of 5-fluorouracil toxicity in adjuvant Colon cancer treatment (NCCTG N0147). JNCI: J Natl Cancer Inst. 2014;106(12):2–8.
   Web of Science ®Google Scholar
• Zhou W, Freed CR. Tyrosine-to-cysteine modification of human α-synuclein enhances protein aggregation and cellular toxicity. J Biol Chem. 2004;279(11):10128–10135.
   PubMed Web of Science ®Google Scholar
• Amstutz U, Farese S, Aebi S, et al. Dihydropyrimidine dehydrogenase gene variation and severe 5-fluorouracil toxicity: a haplotype assessment. Pharmacogenomics. 2009;10(6):931–944.
   PubMed Web of Science ®Google Scholar
• Schwab M, Zanger UM, Marx C, et al. Role of genetic and nongenetic factors for fluorouracil treatment-related severe toxicity: a prospective clinical trial by the german 5-FU toxicity study group. JCO. 2008;26(13):2131–2138.
   PubMed Web of Science ®Google Scholar
• Morganti M, Ciantelli M, Giglioni B, et al. Relationships between promoter polymorphisms in the thymidylate synthase gene and mRNA levels in colorectal cancers. Eur J Cancer. 2005;41(14):2176–2183.
   PubMed Web of Science ®Google Scholar