Clinical importance of risk variants in the dihydropyrimidine dehydrogenase gene for the prediction of early-onset fluoropyrimidine toxicity

International Journal of Cancer

Volumn 136, Issue 3, 2015, Pages 730-739

  Froehlich, Tanja K ^a   Amstutz, Ursula ^a,b   Aebi, Stefan ^c   Joerger, Markus ^d   Largiadèr, Carlo R ^a  

^a UNIVERSITY OF BERN   (Switzerland)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c LUZERNER KANTONSSPITAL   (Switzerland)

^d CANTONAL HOSPITAL ST GALLEN   (Switzerland)

Author keywords

5 fluorouracil; Capecitabine; Dihydropyrimidine dehydrogenase gene; DPYD; Drug safety; Fluoropyrimidine; Pharmacogenetics

Indexed keywords

CAPECITABINE; CARBOPLATIN; CISPLATIN; DIHYDROPYRIMIDINE DEHYDROGENASE; DNA; DOCETAXEL; EPIRUBICIN; FLUOROURACIL; FOLINIC ACID; IRINOTECAN; OXALIPLATIN;

ADULT; AGED; ANEMIA; ANUS CANCER; ARTICLE; BILIARY TRACT TUMOR; BLOOD TOXICITY; BREAST TUMOR; CANCER COMBINATION CHEMOTHERAPY; CAUCASIAN; COHORT ANALYSIS; COLORECTAL CANCER; COLORECTAL TUMOR; DEHYDRATION; DIARRHEA; DISEASE SEVERITY; DNA SEQUENCE; DOSE RESPONSE; DPYD GENE; DRUG INDUCED DISEASE; DRUG SUBSTITUTION; DRUG WITHDRAWAL; DRY SKIN; ESOPHAGUS CANCER; ESOPHAGUS TUMOR; FEBRILE NEUTROPENIA; FEMALE; GASTROINTESTINAL SYMPTOM; GASTROINTESTINAL TUMOR; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; HAIR LOSS; HAND FOOT SYNDROME; HAPLOTYPE; HEAD AND NECK TUMOR; HETEROZYGOTE; HUMAN; INFECTION; LEUKOPENIA; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MONOTHERAPY; MUCOSA INFLAMMATION; MULTIPLE CYCLE TREATMENT; NAUSEA; PANCREAS TUMOR; PHARMACOGENETICS; RETROSPECTIVE STUDY; RISK ASSESSMENT; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN TOXICITY; STOMACH TUMOR; THROMBOCYTOPENIA; VOMITING; YOUNG ADULT; ADOLESCENT; GENETICS; RISK; TOXICITY; VERY ELDERLY;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; DIHYDROURACIL DEHYDROGENASE (NADP); FEMALE; FLUOROURACIL; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK;

EID: 84911006276     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.29025     Document Type: Article

References (45)

1. Meyerhardt JA, Mayer RJ. Systemic therapy for colorectal cancer. N Engl J Med 2005;352:476-87.
2. 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;5:2895-904.
3. 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;17:3455-68.
4. 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. J Clin Oncol 2008;26:2131-2138.
5. Mattison LK, Soong R, Diasio RB. Implications of dihydropyrimidine dehydrogenase on 5-fluorouracil pharmacogenetics and pharmacogenomics. Pharmacogenomics 2002;3:485-92.
6. Diasio RB, Harris BE. Clinical pharmacology of 5-fluorouracil. Clin Pharmacokinet 1989;16:215-37.
7. Ezzeldin H, Diasio R. Dihydropyrimidine dehydrogenase deficiency, a pharmacogenetic syndrome associated with potentially life-threatening toxicity following 5-fluorouracil administration. Clin Colorectal Cancer 2004;4:181-9.
8. Etienne MC, Lagrange JL, Dassonville O, et al. Population study of dihydropyrimidine dehydrogenase in cancer-patients. J Clin Oncol 1994;12: 2248-53.
9. Lu ZH, Zhang RW, Diasio RB. Dihydropyrimidine dehydrogenase-activity in human peripheralblood mononuclear-cells and liver-population characteristics, newly identified deficient patients, and clinical implication in 5-fluorouracil chemotherapy. Cancer Res 1993;53:5433-8.
10. Sherry ST, Ward MH, Kholodov M, et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 2001;29:308-11.
11. Amstutz U, Froehlich TK, Largiader CR. Dihydropyrimidine dehydrogenase gene as a major predictor of severe 5-fluorouracil toxicity. Pharmacogenomics 2011;12:1321-36.
12. van Kuilenburg AB, Dobritzsch D, Meinsma R, et al. Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure. Biochem J 2002;364:157-63.
13. van Kuilenburg AB, Vreken P, Beex LV, et al. Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity. Eur J Cancer 1997;33:2258-64.
14. Caudle KE, Thorn CF, Klein TE, et al. Clinical pharmacogenetics implementation consortium guidelines for dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing. Clin Pharmacol Therap 2013;94:640-5.
15. Lee SY, McLeod HL. Pharmacogenetic tests in cancer chemotherapy: what physicians should know for clinical application. J Pathol 2011;223: 15-27.
16. Amstutz U, Farese S, Aebi S, et al. Dihydropyrimidine dehydrogenase gene variation and severe 5-fluorouracil toxicity: a haplotype assessment. Pharmacogenomics 2009;10:931-44.
17. 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; 128:529-38.
18. 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:e4003.
19. Kleibl Z, Fidlerova J, Kleiblova P, et al. Influence of dihydropyrimidine dehydrogenase gene (DPYD) coding sequence variants on the development of fluoropyrimidine-related toxicity in patients with high-grade toxicity and patients with excellent tolerance of fluoropyrimidinebased chemotherapy. Neoplasma 2009;56:303-16.
20. Gamelin E, Delva R, Jacob J, et al. Individual fluorouracil dose adjustment based on pharmacokinetic follow-up compared with conventional dosage: results of a multicenter randomized trial of patients with metastatic colorectal cancer. J Clin Oncol 2008;26:2099-105.
21. U.S. National Cancer Institute NCI. Cancer therapy evaluation program: common terminology criteria for adverse events v3.0 (CTCAE). Availabel at: http://ctep.cancer.gov.
22. den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000;15:7-12.
23. Excoffier L, Laval G, Schneider S. Arlequin ver. 3.0: an integrated software package for population genetics data analysis. Evol Bioinform Online 2005;1:47-50.
24. R Development Core Team. R: a language and environment for statistical computing 2011; ISBN 3-900051-07-0.
25. The International HapMap Consortium. The international HapMap project. Nature 2003;426: 789-96.
26. Rembold CM. Number needed to screen: development of a statistic for disease screening. Br Med J 1998;317:307-12.
27. Seck K, Riemer S, Kates R, et al. Analysis of the DPYD gene implicated in 5-fluorouracil catabolism in a cohort of Caucasian individuals. Clin Cancer Res 2005;11:5886-92.
28. van Kuilenburg AB, Haasjes J, Richel DJ, et al. Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene. Clin Cancer Res 2000;6:4705-12.
29. Johnson MR, Wang K, Diasio RB. Profound dihydropyrimidine dehydrogenase deficiency resulting from a novel compound heterozygote genotype. Clin Cancer Res 2002;8:768-74.
30. Loganayagam A, Arenas Hernandez M, Corrigan A, et al. Pharmacogenetic variants in the DPYD, TYMS, CDA and MTHFR genes are clinically significant predictors of fluoropyrimidine toxicity. Br J Cancer 2013;108:2505-15.
31. 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;73:1958-68.
32. 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;74:2545-54.
33. Fernandez-Rozadilla C, Cazier JB, Moreno V, et al. Pharmacogenomics in colorectal cancer: a genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration. Pharmacogenom J 2012;13:209-17.
34. Chansky K, Benedetti J, Macdonald JS. Differences in toxicity between men and women treated with 5-fluorouracil therapy for colorectal carcinoma. Cancer 2005;103:1165-71.
35. Sloan JA, Goldberg RM, Sargent DJ, et al. Women experience greater toxicity with fluorouracil-based chemotherapy for colorectal cancer. J Clin Oncol 2002;20:1491-8.
36. Mueller F, Buchel B, Koberle D, et al. Genderspecific elimination of continuous-infusional 5-fluorouracil in patients with gastrointestinal malignancies: results from a prospective population pharmacokinetic study. Cancer Chemother Pharmacol 2013;71:361-70.
37. Prado CM, Baracos VE, McCargar LJ, et al. Body composition as an independent determinant of 5-fluorouracil-based chemotherapy toxicity. Clin Cancer Res 2007;13:3264-8.
38. Nygard O, Vollset SE, Refsum H, et al. Total plasma homocysteine and cardiovascular risk profile. The Hordaland Homocysteine Study. JAMA 1995;274:1526-33.
39. Verhoef P, Meleady R, Daly LE, et al. Homocysteine, vitamin status and risk of vascular disease: effects of gender and menopausal status. European COMAC Group. Eur Heart J 1999;20:1234-44.
40. Saam J, Critchfield GC, Hamilton SA, et al. Body surface area-based dosing of 5-fluoruracil results in extensive interindividual variability in 5-fluorouracil exposure in colorectal cancer patients on FOLFOX regimens. Clin Colorectal Cancer 2011;10:203-6.
41. 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;73:1958-68.
42. Magdy T, Arlanov R, Winter S, et al. ABCC11/ MRP8 polymorphisms affect 5-fluorouracilinduced severe toxicity and hepatic expression. Pharmacogenomics 2013;14:1433-48.
43. Offer SM, Butterfield GL, Jerde CR, et al. micro-RNAs miR-27a and miR-27b directly regulate liver dihydropyrimidine dehydrogenase expression through two conserved binding sites. Mol Cancer Ther 2014;13:742-51.
44. van Kuilenburg AB, Hausler P, Schalhorn A, et al. Evaluation of 5-fluorouracil pharmacokinetics in cancer patients with a c.190511G>A mutation in DPYD by means of a Bayesian limited sampling strategy. Clin Pharmacokinet 2012; 51:163-74.
45. van Kuilenburg AB, Maring JG. Evaluation of 5-fluorouracil pharmacokinetic models and therapeutic drug monitoring in cancer patients. Pharmacogenomics 2013;14:799-811.