Pharmacogenomics of colorectal cancer prevention and treatment

Cancer Investigation

Volumn 24, Issue 6, 2006, Pages 630-639

  Nguyen, Hoa ^a   Tran, Ashley ^a   Lipkin, Steven ^a   Fruehauf, John P ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Carboxylesterase; Nucleotide excision repair; Pharmacogenetics; Single nucleotide polymorphism; Thymidylate synthase

Indexed keywords

ATORVASTATIN; BEVACIZUMAB; CAMPTOTHECIN; CAPECITABINE; CARBOPLATIN; CETUXIMAB; CISPLATIN; FLUOROPYRIMIDINE DERIVATIVE; FLUOROURACIL; GLUCURONOSYLTRANSFERASE 1A1; IRINOTECAN; OXALIPLATIN; SIMVASTATIN;

BONE MARROW SUPPRESSION; CANCER RISK; CHEMOPROPHYLAXIS; COLORECTAL CANCER; DIARRHEA; DOSE RESPONSE; DRUG EFFICACY; DRUG METABOLISM; FOOD AND DRUG ADMINISTRATION; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; NEUTROPENIA; PHARMACOGENOMICS; PRIORITY JOURNAL; REVIEW;

ANTINEOPLASTIC AGENTS; COLORECTAL NEOPLASMS; HUMANS; NEOPLASM PROTEINS; PHARMACOGENETICS; POLYMORPHISM, GENETIC;

EID: 33748877201     PISSN: 07357907     EISSN: 15324192     Source Type: Journal    
DOI: 10.1080/07357900600896281     Document Type: Review

References (78)

1. Rougier, P.; Lepere, C. Metastatic colorectal cancer: first- and second-line treatment in 2005. Semin Oncol. 2005, 32 (6 Suppl. 8),15-20.
2. Petros, W.P.; Evans, W.E. Pharmacogenomics in cancer therapy: is host genome variability important? Trends Pharmacol. Sci. 2004, 25, 457-464.
3. Eichelbaum, M.; Ingelman-Sundberg, M.; Evans, W.E. Pharmacogenomics and Individualized Drug Therapy. Annu. Rev. Med. 2005. (epub ahead of print)
4. Evans, W.E.; McLeod, H.L. Pharmacogenomics-drug disposition, drug targets, and side effects. N. Engl. J. Med. 2003, 348, 538-549.
5. Hinds, D.A.; et al. Whole-genome patterns of common DNA variation in three human populations. Science 2005, 307, 1072-1079.
6. Collins, F.S. Genome research: the next generation. Cold Spring Harb. Symp. Quant. Biol. 2003, 68, 49-54.
7. Crawford, D.C.; Akey, D.T.; Nickerson, D.A. The patterns of natural variation in human genes. Annu. Rev. Genomics Hum. Genet. 2005, 6, 287-312.
8. Crawford, D.C.; Nickerson, D.A. Definition and clinical importance of haplotypes. Annu. Rev. Med. 2005, 56, 303-320.
9. Coulthard, S.; Hogarth, L. The thiopurines: an update. Invest. New Drugs. 2005, 23, 523-532.
10. Wang, L.; Nguyen, T.V.; McLaughlin, R.W.; Sikkink, L.A,; Ramirez-Alvarado, M.; Weinshilboum, R.M. Human thiopurine S-methyltransferase pharmacogenetics: variant allozyme misfolding and aggresome formation. Proc. Natl. Acad. Sci. USA 2005, 102, 9394-9399.
11. Wood, T.C.; Salavaggione, O.E.; Mukherjee, B.; Wang, L.; Klumpp, A.F.; et al. Human arsenic methyltransferase (AS3MT) pharmacogenetics: Gene resequencing and functional genomics studies. J. Biol. Chem. 2006. (epub ahead of print)
12. Weng, W.K.; Levy, R. Two immunoglobulin G fragment C receptor polymorphisms independently predict response to rituximab in patients with follicular lymphoma. J. Clin. Oncol. 2003, 21, 3940-3947.
13. Evans, W.E. Pharmacogenetics of thiopurine S-methyltransferase and thiopurine therapy. Ther. Drug Monit. 2004, 26, 186-191.
14. Marsh, S.; McLeod, H.L. Pharmacogenetics of irinotecan toxicity. Pharmacogenomics 2004, 5, 835-843.
15. Fukunaga, A.K.; Marsh, S.; Murry, D.J.; Hurley, T.D.; McLeod, H.L. Identification and analysis of single-nucleotide polymorphisms in the gemcitabine pharmacologic pathway. Pharmacogenomics J. 2004, 4, 307-314.
16. McLeod, H.L.; King, C.R.; Marsh, S. Application of pharmacogenomics in the individualization of chemotherapy for gastrointestinal malignancies. Clin. Colorectal. Cancer. 2004, 4, S43-47.
17. Marsh, S.; McLeod, H.L. Cancer pharmacogenetics. Br. J. Cancer 2004, 90, 8-11.
18. Mandola, M.V.; 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, 2898-2904.
19. Jakob, C.; Aust, D.E.; Meyer, W.; Baretton, G.B.; Schwabe, W.; et al. Thymidylate synthase, thymidine phosphorylase, dihydropyrimidine dehydrogenase expression, and histological tumour regression after 5-FU-based neo-adjuvant chemoradiotherapy in rectal cancer. J. Pathol. 2004, 204, 562-568.
20. Matsuura, T.; Kuratate, I.; Teramachi, K.; Osaki, M.; Fukuda, Y.; Ito, H. Thymidine phosphorylase expression is associated with both increase of intratumoral microvessels and decrease of apoptosis in human colorectal carcinomas. Cancer Res. 1999, 59, 5037-5040.
21. Carreras, C.W.; Santi, D.V. The catalytic mechanism and structure of thymidylate synthase. Annu Rev Biochem 1995, 64, 721-762.
22. Edler, D.; Gilmelius, B.; Hallstrom, M.; Jakobsen, A.; Johnston, P.G.; Magnusson, I.; et al. Thymidylate synthase expression in colorectal cancer: a prognostic and predictive marker of benefit from adjuvant fluorouracil-based chemotherapy. J. Clin. Oncol. 2002, 20, 1721-1728.
23. Allen, W.L.; Johnston, P.G. Role of genomic markers in colorectal cancer treatment. J. Clin. Oncol. 2005, 23, 4545-4552.
24. Tai, N.; Schmitz, J.C.; Liu, J.; Lin, X.; Bailly, M.; et al. Translational autoregulation of thymidylate synthase and dihydrofolate reductase. Front. Biosci. 2004, 9, 2521-2526.
25. Villafranca, E.; Okruzhnov, Y.; Dominguez, M.A.; Garcia-Foncillas, J.; Azinovic, I.; et al. Polymorphisms of the repeated sequences in the enhancer region of the thymidylate synthase gene promoter may predict downstaging after preoperative chemoradiation in rectal cancer. J. Clin. Oncol. 2001, 19, 1779-1786.
26. Mandola, M.V.; 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, 2898-2904.
27. Ulrich, C.M.; Bigler, J.; Velicer, C.M.; Greene, E.A.; Farin, F.M.; Potter, J.D. Searching expressed sequence tag databases: discovery and confirmation of a common polymorphism in the thymidylate synthase gene. Cancer Epidemiol. Biomark. Prev. 2000, 9, 1381-1385.
28. Lecomte, T.; Ferraz, J.M.; Zinzindohoue, F.; Loriot, M.A.; Tregouet, D.A.; et al. Thymidylate synthase gene polymorphism predicts toxicity in colorectal cancer patients receiving 5-fluorouracil-based chemotherapy. Clin. Cancer Res. 2004, 10, 5880-5888.
29. Ridge, S.A.; Sludden, J.; Brown, O.; Robertson, L.; Wei, X.; et al. Dihydropyrimidine dehydrogenase pharmacogenetics in Caucasian subjects. Br. J. Clin. Pharmacol. 1998, 46, 151-156.
30. McLeod, H.L.; Sludden, J.; Murray, G.I.; Keenan, R.A.; Davidson, A.I.; et al. Characterization of dihydropyrimidine dehydrogenase in human colorectal tumours. Br. J. Cancer 1998, 77, 461-465.
31. van Kuilenburg, A.B.; Muller, E.W.; Haasjes, J.; Meinsma, R.; Zoetekouw, L.; et al. Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14 + 1G>A mutation causing DPD deficiency. Clin. Cancer Res. 2001, 7, 1149-1153.
32. Van Kuilenburg, A.B.; Meinsma, R.; Beke, E.; Bobba, B.; Boffi, P.; et al. Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function. Biol. Chem. 2005, 386, 319-324.
33. Van Kuilenburg, A.B.; Haasjes, J.; Richel, D.J.; Zoetekouw, L.; Van Lenthe, H.; 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, 4705-4712.
34. Park, D.J.; Stoehlmacher, J.; Zhang, W.; Tsao-Weim D.; Groshen, S.; Lenz, H.J. Thymidylate synthase gene polymorphism predict response to capecitabine in advanced colorectal cancer. Int. J. Colorectal Dis. 2002, 17, 46-49.
35. Rooseboom, M.; Commander, J.N.; Vermeulen, N.P. Enzyme-catalyzed activation of anticancer prodrugs. Pharmacol. Rev. 2004, 56, 53-102.
36. Van Cutsem, E.; Twelves, C.; Cassidy, J.; et al. Oral capecitabine compared with intravenous fluorouracil plus leucovorin in patients with metastatic colorectal cancer: results of a large phase III study. J. Clin. Oncol. 2001, 19, 4097-4106.
37. Twelves, C.; Wong, A.; Nowacki, M.P.; et al. Capecitabine as adjuvant treatment for stage III colon cancer. N. Engl. J. Med. 2005, 352, 2696-2704.
38. Humerickhouse, R.; Lohrbach, K.; Li, L.; Bosron, W.F.; Dolan, M.E. Characterization of CPT-11 hydrolysis by human liver carboxylesterase isoforms hCE-1 and hCE-2. Cancer Res. 2000, 60, 1189-1192.
39. Kitagawa, C.; Ando, M.; Ando, Y.; Sekido, Y.; Wakai, K.; et al. Genetic polymorphism in the phenobarbital-responsive enhancer module of the UDP-glucuronosyltransferase 1A1 gene and irinotecan toxicity. Pharmacogenet Genomics. 2005, 15, 35-41.
40. Iyer, L.; Hall, D.; Das, S.; Mortell, M.A.; Ramirez. J.; et al. Phenotype-genotype correlation of in vitro SN-38 (active metabolite of irinotecan) and bilirubin glucuronidation in human liver tissue with UGT1A1 promoter polymorphism. Clin. Pharmacol. Ther. 1999, 65, 576-578.
41. Innocenti, F.; Undevia, S.D.; Iyer, L.; Chen, P.X.; Das, S.; et al. Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan. J. Clin. Oncol. 2004, 22, 1382-1388.
42. Rouits, E.; Boisdron-Celle, M.; Dumont, A.; Guerin, O.; Morel, A.; Gamelin, E. Relevance of different UGT1A1 polymorphisms in irinotecan-induced toxicity: a molecular and clinical study of 75 patients. Clin. Cancer Res. 2004, 10, 5151-5159.
43. McLeod, H.L.; Watters, J.W. Irinotecan pharmacogenetics: is it time to intervene? J. Clin. Oncol. 2004, 22, 1356-1359.
44. Khanna, R.; Morton, C.L.; Danks, M.K.; Potter, P.M. Proficient metabolism of irinotecan by a human intestinal carboxylesterase. Cancer Res. 2000, 60, 4725-4728.
45. Sai, K.; Kaniwa, N.; Itoda, M.; Saito, Y.; Hasegawa, R.; et al. Haplotype analysis of ABCB1/MDR1 blocks in a Japanese population reveals genotype-dependent renal clearance of irinotecan. Pharmacogenetics 2003, 13, 741-757.
46. Raymond, E.; Faivre, S.; Woynarowski, J.M.; Chaney, S.G. Oxaliplatin: mechanism of action and antineoplastic activity. Semin. Oncol. 1998, 25, 4-12.
47. Chaney, S.G.; Campbell, S.L.; Bassett, E.;Wu, Y. Recognition and processing of cisplatin- and oxaliplatin-DNA adducts. Crit. Rev. Oncol. Hematol. 2005, 53, 3-11.
48. Shirota, Y.; Stoehlmacher, J.; Brabender, J.; Xiong, Y.P.; Uetake, H.; et al. ERCC1 and thymidylate synthase mRNA levels predict survival for colorectal cancer patients receiving combination oxaliplatin and fluorouracil chemotherapy. J. Clin. Oncol. 2001, 19, 4298-4304.
49. Stoehlmacher, J.; Park, D.J.; Zhang, W.; Yang, D.; Groshen, S.; et al. A multivariate analysis of genomic polymorphisms: prediction of clinical outcome to 5-FU/oxaliplatin combination chemotherapy in refractory colorectal cancer. Br. J. Cancer 2004, 91, 344-354.
50. Park, D.J.; Stoehlmacher, J.; Zhang, W.; Tsao-Wei, D.; Groshen, S.; Lenz, H.J. A Xeroderma pigmentosum group D gene polymorphism predicts clinical outcome to platinum-based chemotherapy in patients with advanced colorectal cancer. Cancer Res. 2001, 61, 8654-8658.
51. Stoehlmacher, J.; Ghaderi, V.; Iobal, S.; Groshen, S.; Tsao-Wei, D.; Park, D.; Lenz, H.J. A polymorphism of the XRCC1 gene predicts for response to platinum based treatment in advanced colorectal cancer. Anticancer Res. 2001, 21, 3075-3079.
52. Stoehlmacher, J.; Park, D.J.; Zhang, W.; Groshen, S.; Tsao-Wei, D.D.; et al. Association between glutathione S-transferase P1, T1, and M1 genetic polymorphism and survival of patients with metastatic colorectal cancer. J. Natl. Cancer Inst. 2002, 94, 936-942.
53. Spano, J.P.; Lagorce, C.; Atlan, D.; Milano, G.; Domont, J.; et al. Impact of EGFR expression on colorectal cancer patient prognosis and survival. Ann Oncol 2005, 16, 102-108.
54. Watson, N.F.; Madjd, Z.; Scrimegour, D.; Spendlove, I.; Ellis, I.O.; et al. Evidence that the p53 negative/Bcl-2 positive phenotype is an independent indicator of good prognosis in colorectal cancer: a tissue microarray study of 460 patients. World J. Surg. Oncol. 2005, 3, 47-57.
55. Lyall, M.S.; Dundas, S.R.; Curran, S.; Murray, G.I. Profiling markers of prognosis in colorectal cancer. Clin. Cancer Res. 2006, 12, 1184-1191.
56. Barrier, A.; Lemoine, A.; Boelle, P.Y.; Tse, C.; Brault, D.; et al. Colon cancer prognosis prediction by gene expression profiling. Oncogene 2005, 24, 6155-6164.
57. Wang, Y.; Jatkoe, T.; Zhang, Y.; Mutch, M.G.; Talantov, D.; et al. Gene expression profiles and molecular markers to predict recurrence of Dukes' B colon cancer. J. Clin. Oncol. 2004, 22, 1564-1571.
58. Ritter, C.A.; Arteaga, C.L. The epidermal growth factor receptor-tyrosine kinase: a promising therapeutic target in solid tumors. Semin. Oncol. 2003, 30 (1 Suppl. 1), 3-11.
59. Cunningham, D.; Humblet, Y.; Siena, S.; Khayat, D.; Bleiberg, H.; et al. Cetuximab monotherapy and cetuximab plus irinotecan in irinotecan-refractory metastatic colorectal cancer. N. Engl. J. Med. 2004, 351, 337-345.
60. Fruehauf, J. EGFR function and detection in cancer therapy. J. Exptl. Ther. Oncology 2006, 5, 231-246.
61. Susman, E. Rash correlates with tumour response after cetuximab. Lancet Oncol. 2004, 5, 647.
62. Gebhardt, F.; Burger, H.; Brandt, B. Modulation of EGFR gene transcription by secondary structures, a polymorphic repetitive sequence and mutations-a link between genetics and epigenetics. Histol. Histopathol. 2000, 15, 929-936.
63. Zhang, W.; Stoehlmacher, J.; Park, D.J.; Yang, D.; Borchard, E.; et al. Gene polymorphisms of epidermal growth factor receptor and its downstream effector, interleukin-8, predict oxaliplatin efficacy in patients with advanced colorectal cancer. Clin. Colorectal Cancer 2005, 5, 124-131.
64. Watson, C.J.; Webb, N.J.; Bottomley, M.J.; Brenchley, P.E. Identification of polymorphisms within the vascular endothelial growth factor (VEGF) gene: correlation with variation in VEGF protein production. Cytokine 2000, 12, 1232-1235.
65. Yang, J.C.; Haworth, L.; Sherry, R.M.; Hwu, P.; Schwartzentruber, D.; et al. A randomized trial of bevacizumab, an anti-vascular endothelial growth factor antibody, for metastatic renal cancer. N. Engl. J. Med. 2003, 349, 427-434.
66. Karp, J.E.; Gojo, I.; Pili, R.; Gocke, C.D.; Greer, J.; et al. Targeting vascular endothelial growth factor for relapsed and refractory adult acute myelogenous leukemias: therapy with sequential 1-beta-d- arabinofuranosylcytosine, mitoxantrone, and bevacizumab. Clin. Cancer. Res. 2004, 10, 3577-3585.
67. Lynch, H.T.; et al. Hereditary nonpolyposis colorectal carcinoma (HNPCC) and HNPCC-like families: Problems in diagnosis, surveillance, and management. Cancer 2004, 100, 53-64.
68. Keller, J.J.; Giardiello, F.M. Chemoprevention strategies using NSAIDs and COX-2 inhibitors. Cancer Biol. Ther. 2003, 2, S140-145.
69. Annie, Yu H.J.; Lin, K.M.; Ota, D.M.; Lynch, H.T. Hereditary nonpolyposis colorectal cancer: preventive management. Cancer Treat Rev 2003, 29, 461-470.
70. Graaf, M.R.; Beiderbeck, A.B.; Egberts, A.C.; Richel, D.J.; Guchelaar, H.J. The risk of cancer in users of statins. J. Clin. Oncol. 2004, 22, 2388-2394.
71. Poynter, J.N.; et al. Statins and the risk of colorectal cancer. N. Engl. J. Med. 2005, 352, 2184-2192.
72. Erlinger, T.P.; Platz, E.A.; Rifai, N.; Helzlsouer, K.J. C-reactive protein and the risk of incident colorectal cancer. JAMA 2004, 291, 585-590.
73. Lipkin, S.M.; et al. The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer. Nat. Genet. 2004, 36, 694-699.
74. Siest, G.; et al. Pharmacogenomics and drug response in cardiovascular disorders. Pharmacogenomics 2004, 5, 779-802.
75. Chasman, D.I.; et al. Pharmacogenetic study of statin therapy and cholesterol reduction. JAMA 2004, 291, 2821-2827.
76. de Groot, E.; et al. Effect of pravastatin on progression and regression of coronary atherosclerosis and vessel wall changes in carotid and femoral arteries: a report from the Regression Growth Evaluation Statin Study. Am. J. Cardiol. 1995, 76, 40C-46C.
77. Packham, C.; et al. Statin prescribing in Nottingham general practices: a cross-sectional study. J. Public Health Med. 1999, 21, 60-64.
78. van Hout, B.A.; Simoons, M.L. Cost-effectiveness of HMG coenzyme reductase inhibitors; whom to treat? Eur. Heart J. 2001, 22, 751-761.