Is it finally time for a personalized medicine approach for fluorouracil-based therapies?

Journal of Clinical Oncology

Volumn 34, Issue 3, 2016, Pages 205-207

  Offer, Steven M ^a   Diasio, Robert B ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CAPECITABINE; DIHYDROPYRIMIDINE DEHYDROGENASE; FLUOROURACIL; MICRORNA; ANTINEOPLASTIC AGENT; PYRIMIDINE DERIVATIVE;

CANCER CHEMOTHERAPY; COLON CANCER; DRUG DOSE REDUCTION; DRUG EFFICACY; EDITORIAL; GENE EXPRESSION; GENE LINKAGE DISEQUILIBRIUM; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HUMAN; OUTCOME ASSESSMENT; PERSONALIZED MEDICINE; PRIORITY JOURNAL; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR GENE; UNSPECIFIED SIDE EFFECT; FEMALE; GENETICS; GENOTYPING TECHNIQUE; MALE; PROCEDURES;

ANTINEOPLASTIC COMBINED CHEMOTHERAPY PROTOCOLS; DIHYDROURACIL DEHYDROGENASE (NADP); FEMALE; GENOTYPING TECHNIQUES; HUMANS; MALE; PRECISION MEDICINE; PYRIMIDINES;

EID: 84955512606     PISSN: 0732183X     EISSN: 15277755     Source Type: Journal    
DOI: 10.1200/JCO.2015.64.2546     Document Type: Editorial

References (45)

1. Wei X, McLeod HL, McMurrough J, et al: Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity. J Clin Invest 98:610-615, 1996
2. 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 73:1958-1968, 2013
3. Pesenti C, Gusella M, Sirchia SM, et al: Germline oncopharmacogenetics, a promising field in cancer therapy. Cell Oncol (Dordr) 38:65-89, 2015
4. Caudle KE, Thorn CF, Klein TE, et al: Clinical Pharmacogenetics Implementation Consortium guidelines for dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing. Clin Pharmacol Ther 94:640-645, 2013
5. Pharmacogenomics Knowledgebase: CPIC genes/drugs guidelines for DPYD. https://www.pharmgkb.org/gene/PA145
6. Swen JJ, Nijenhuis M, de Boer A, et al: Pharmacogenetics: from bench to byte - an update of guidelines. Clin Pharmacol Ther 89:662-673, 2011
7. Pharmacogenomics Knowledgebase. https://www.pharmgkb.org/
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 34:227-234, 2016
9. Lee AM, Shi Q, Pavey E, et al: DPYD variants as predictors of 5-fluorouracil toxicity in adjuvant colon cancer treatment (NCCTG N0147). J Natl Cancer Inst 106:dju298, 2014
10. 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 249:271-282, 2007
11. 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 5:2895-2904, 2006
12. Schwab M, Zanger UM, Marx C, et al: German 5-FU Toxicity Study Group: 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 26:2131-2138, 2008
13. Johnson MR, Wang K, et al: Profound dihydropyrimidine dehydrogenase deficiency resulting from a novel compound heterozygote genotype. Clin Cancer Res 8:768-774, 2002
14. 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 364:157-163, 2002
15. 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 6:4705-4712, 2000
16. Amstutz U, Farese S, Aebi S, et al: Dihydropyrimidine dehydrogenase gene variation and severe 5-fluorouracil toxicity: A haplotype assessment. Pharmacogenomics 10:931-944, 2009
17. 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 136:730-739, 2015
18. 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 17:3455-3468, 2011
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 fluoropyrimidine-based chemotherapy. Neoplasma 56:303-316, 2009
20. Offer SM, Lee AM, Mattison LK, et al: A DPYD variant (Y186C) in individuals of african ancestry is associated with reduced DPD enzyme activity. Clin Pharmacol Ther 94:158-166, 2013
21. Offer SM, Diasio RB: Response to "A case of 5-FU-related severe toxicity associated with the P.Y186C DPYD variant". Clin Pharmacol Ther 95:137, 2014
22. Saif MW, Lee AM, Offer SM, et al: A DPYD variant (Y186C) specific to individuals of African descent in a patient with life-threatening 5-FU toxic effects: Potential for an individualized medicine approach. Mayo Clin Proc 89:131-136, 2014
23. Zaanan A, Dumont LM, Loriot MA, et al: A case of 5-FU-related severe toxicity associated with the p.Y186C DPYD variant. Clin Pharmacol Ther 95:136, 2014
24. Amstutz U, Froehlich TK, et al: Dihydropyrimidine dehydrogenase gene as a major predictor of severe 5-fluorouracil toxicity. Pharmacogenomics 12:1321-1336, 2011
25. National Center for Biotechnology Information: Database of single nucleotide polymorphisms (dbSNP). http://www.ncbi.nlm.nih.gov/projects/SNP/snp-ref.cgi?showRare=on&chooseRs=coding&go=Go&locusId=1806
26. 1000 Genomes: The 1000 Genomes browser. http://browser.1000genomes.org/index.html
27. Exome Aggregation Consortium: Exome Aggregation Consortium (ExAC) browser. http://exac.broadinstitute.org
28. Offer SM, Fossum CC, Wegner NJ, et al: Comparative functional analysis of DPYD variants of potential clinical relevance to dihydropyrimidine dehydrogenase activity. Cancer Res 74:2545-2554, 2014
29. Offer SM, Butterfield GL, Jerde CR, et al: microRNAs miR-27a and miR-27b directly regulate liver dihydropyrimidine dehydrogenase expression through two conserved binding sites. Mol Cancer Ther 13:742-751, 2014
30. Hirota T, Date Y, Nishibatake Y, et al: Dihydropyrimidine dehydrogenase (DPD) expression is negatively regulated by certain microRNAs in human lung tissues. Lung Cancer 77:16-23, 2012
31. Amstutz U, Offer SM, Sistonen J, et al: Polymorphisms in MIR27A associated with early-onset toxicity in fluoropyrimidine-based chemotherapy. Clin Cancer Res 21:2038-2044, 2015
32. Horie N, Aiba H, Oguro K, et al: Functional analysis and DNA polymorphism of the tandemly repeated sequences in the 5′-terminal regulatory region of the human gene for thymidylate synthase. Cell Struct Funct 20:191-197, 1995
33. Kawakami K, Omura K, Kanehira E, et al: Polymorphic tandem repeats in the thymidylate synthase gene is associated with its protein expression in human gastrointestinal cancers. Anticancer Res 19:3249-3252, 1999
34. Kawakami K, Salonga D, Park JM, et al: Different lengths of a polymorphic repeat sequence in the thymidylate synthase gene affect translational efficiency but not its gene expression. Clin Cancer Res 7:4096-4101, 2001
35. Pullarkat ST, Stoehlmacher J, Ghaderi V, et al: Thymidylate synthase gene polymorphism determines response and toxicity of 5-FU chemotherapy. Pharmacogenomics J 1:65-70, 2001
36. Meulendijks D, Jacobs BA, Aliev A, et al: Increased risk of severe fluoropyrimidine-associated toxicity in patients carrying a G to C substitution in the first 28-bp tandem repeat of the thymidylate synthase 2R allele. Int J Cancer 138:245-253, 201g
37. 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 108:2505-2515, 2013
38. Ghosh S, Winter JM, Patel K, et al: Reexamining a proposal: Thymidylate synthase 5′-untranslated region as a regulator of translation efficiency. Cancer Biol Ther 12:750-755, 2011
39. Rosmarin D, Palles C, Pagnamenta A, et al: A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS. Gut 64:111-120, 2015
40. De Mattia E, Toffoli G: C677T and A1298C MTHFR polymorphisms, a challenge for antifolate and fluoropyrimidine-based therapy personalisation. Eur J Cancer 45:1333-1351, 2009
41. Caronia D, Martin M, Sastre J, et al: A polymorphism in the cytidine deaminase promoter predicts severe capecitabine-induced hand-foot syndrome. Clin Cancer Res 17:2006-2013, 2011
42. Scott SA: Personalizing medicine with clinical pharmacogenetics. Genet Med 13:987-995, 2011
43. Relling MV, Altman RB, Goetz MP, et al: Clinical implementation of pharmacogenomics: Overcoming genetic exceptionalism. Lancet Oncol 11:507-509, 2010
44. Johnson JA, Burkley BM, Langaee TY, et al: Implementing personalized medicine: Development of a cost-effective customized pharmacogenetics genotyping array. Clin Pharmacol Ther 92:437-439, 2012
45. Bielinski SJ, Olson JE, Pathak J, et al: Preemptive genotyping for personalized medicine: Design of the right drug, right dose, right time-using genomic data to individualize treatment protocol. Mayo Clin Proc 89:25-33, 2014