Pharmacogenomics in chemotherapy for GI tract cancer

Journal of Gastroenterology

Volumn 44, Issue 10, 2009, Pages 1016-1025

  Furuta, Takahisa ^a  

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Chemotherapy; GI tract cancer; Pharmacogenomics

Indexed keywords

7 ETHYL 10 HYDROXYCAMPTOTHECIN; ANTINEOPLASTIC AGENT; BEVACIZUMAB; CARBAMAZEPINE; CETUXIMAB; CIMETIDINE; CISPLATIN; CYTIDINE DEAMINASE; DIHYDROPYRIMIDINE DEHYDROGENASE; DOCETAXEL; FLUOROURACIL; GEMCITABINE; GLUCURONOSYLTRANSFERASE 1A1; GLUTATHIONE TRANSFERASE P1; IRINOTECAN; K RAS PROTEIN; OXALIPLATIN; PACLITAXEL; PANITUMUMAB; PHENOBARBITAL; PHENYTOIN; PLATINUM COMPLEX; TEGAFUR; TRASTUZUMAB;

AREA UNDER THE CURVE; BREAST CANCER; CANCER CHEMOTHERAPY; CLINICAL ASSESSMENT; COLORECTAL CANCER; DIARRHEA; DIGESTIVE SYSTEM CANCER; DOSE RESPONSE; DROWSINESS; DRUG ABSORPTION; DRUG BLOOD LEVEL; DRUG CLEARANCE; DRUG DOSE INCREASE; DRUG EXCRETION; DRUG HALF LIFE; DRUG INHIBITION; DRUG MECHANISM; DRUG METABOLISM; DRUG POTENTIATION; DRUG SENSITIVITY; ENZYME ACTIVITY; ENZYME POLYMORPHISM; ESOPHAGUS CANCER; GENETIC DIFFERENCE; HEAD AND NECK CANCER; HUMAN; LEUKOPENIA; LUNG NON SMALL CELL CANCER; MALIGNANT NEOPLASTIC DISEASE; MAXIMUM PLASMA CONCENTRATION; NEUROTOXICITY; NEUTROPENIA; OTOTOXICITY; OVARY CANCER; PANCREAS CANCER; PHARMACOGENOMICS; PLASMA HALF LIFE; PRIORITY JOURNAL; REVIEW; STOMACH CANCER; TOXICITY; TREATMENT RESPONSE; UNSPECIFIED SIDE EFFECT;

ANTINEOPLASTIC AGENTS; DRUG RESISTANCE, NEOPLASM; ENZYMES; GASTROINTESTINAL NEOPLASMS; GENETIC MARKERS; HUMANS; PHARMACEUTICAL PREPARATIONS; PHARMACOGENETICS; TREATMENT OUTCOME;

EID: 70350015410     PISSN: 09441174     EISSN: 14355922     Source Type: Journal    
DOI: 10.1007/s00535-009-0124-9     Document Type: Review

References (64)

1. Fleming RA, Milano G, Thyss A, Etienne MC, Renee N, Schneider M, et al. Correlation between dihydropyrimidine dehydrogenase activity in peripheral mononuclear cells and systemic clearance of fluorouracil in cancer patients. Cancer Res. 1992;52(10):2899-902.
2. van Kuilenburg AB, Haasjes J, Richel DJ, Zoetekouw L, Van Lenthe H, De Abreu RA, 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(12):4705-12.
3. van Kuilenburg AB. Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil. Eur J Cancer. 2004;40(7):939-50.
4. Danenberg PV. Thymidylate synthetase - a target enzyme in cancer chemotherapy. Biochim Biophys Acta. 1977;473(2):73-92.
5. Salonga D, Danenberg KD, Johnson M, Metzger R, Groshen S, Tsao-Wei DD, et al. Colorectal tumors responding to 5-fluorouracil have low gene expression levels of dihydropyrimidine dehydrogenase, thymidylate synthase, and thymidine phosphorylase. Clin Cancer Res. 2000;6(4):1322-7.
6. Horie N, Aiba H, Oguro K, Hojo H, Takeishi K. 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. 1995;20(3):191-7.
7. Kawakami K, Salonga D, Park JM, Danenberg KD, Uetake H, Brabender J, 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. 2001;7(12):4096-101.
8. Kawakami K, Watanabe G. Identification and functional analysis of single nucleotide polymorphism in the tandem repeat sequence of thymidylate synthase gene. Cancer Res. 2003;63(18):6004-7.
9. Ulrich CM, Bigler J, Velicer CM, Greene EA, Farin FM, Potter JD. Searching expressed sequence tag databases: Discovery and confirmation of a common polymorphism in the thymidylate synthase gene. Cancer Epidemiol Biomarkers Prev. 2000;9(12):1381-5.
10. Metzger R, Danenberg K, Leichman CG, Salonga D, Schwartz EL, Wadler S, et al. High basal level gene expression of thymidine phosphorylase (platelet-derived endothelial cell growth factor) in colorectal tumors is associated with nonresponse to 5-fluorouracil. Clin Cancer Res. 1998;4(10):2371-6.
11. Ciaparrone M, Quirino M, Schinzari G, Zannoni G, Corsi DC, Vecchio FM, et al. Predictive role of thymidylate synthase, dihydropyrimidine dehydrogenase and thymidine phosphorylase expression in colorectal cancer patients receiving adjuvant 5-fluorouracil. Oncology. 2006;70(5):366-77.
12. Sarbia M, Stahl M, von Weyhern C, Weirich G, Puhringer-Oppermann F. The prognostic significance of genetic polymorphisms (methylenetetrahydrofolate reductase C677T, methionine synthase A2756G, thymidilate synthase tandem repeat polymorphism) in multimodally treated oesophageal squamous cell carcinoma. Br J Cancer. 2006;94(2):203-7.
13. Huang ZH, Hua D, Li LH. The polymorphisms of TS and MTHFR predict survival of gastric cancer patients treated with fluorouracil-based adjuvant chemotherapy in Chinese population. Cancer Chemother Pharmacol. 2009;63(5):911-8.
14. Afzal S, Jensen SA, Vainer B, Vogel U, Matsen JP, Sorensen JB et al. MTHFR polymorphisms and 5-FU-based adjuvant chemotherapy in colorectal cancer. Ann Oncol 2009. 22 May [Epub ahead of print].
15. Ikeda K, Yoshisue K, Matsushima E, Nagayama S, Kobayashi K, Tyson CA, et al. Bioactivation of tegafur to 5-fluorouracil is catalyzed by cytochrome P-450 2A6 in human liver microsomes in vitro. Clin Cancer Res. 2000;6(11):4409-15.
16. Daigo S, Takahashi Y, Fujieda M, Ariyoshi N, Yamazaki H, Koizumi W, et al. A novel mutant allele of the CYP2A6 gene (CYP2A6*11) found in a cancer patient who showed poor metabolic phenotype towards tegafur. Pharmacogenetics. 2002;12(4):299-306.
17. Kaida Y, Inui N, Suda T, Nakamura H, Watanabe H, Chida K. The CYP2A6*4 allele is determinant of S-1 pharmacokinetics in Japanese patients with non-small-cell lung cancer. Clin Pharmacol Ther. 2008;83(4):589-94.
18. Martinez C, Albet C, Agundez JA, Herrero E, Carrillo JA, Marquez M, et al. Comparative in vitro and in vivo inhibition of cytochrome P450 CYP1A2, CYP2D6, and CYP3A by H2-receptor antagonists. Clin Pharmacol Ther. 1999;65(4):369-76.
19. Harvey VJ, Slevin ML, Dilloway MR, Clark PI, Johnston A, Lant AF. The influence of cimetidine on the pharmacokinetics of 5-fluorouracil. Br J Clin Pharmacol. 1984;18(3):421-30.
20. Gilbar PJ, Brodribb TR. Phenytoin and fluorouracil interaction. Ann Pharmacother. 2001;35(11):1367-70.
21. Hui YF, Reitz J. Gemcitabine: A cytidine analogue active against solid tumors. Am J Health Syst Pharm. 1997;54(2):162-70. quiz 197-8.
22. Hilbig A, Oettle H. Gemcitabine in the treatment of metastatic pancreatic cancer. Expert Rev Anticancer Ther. 2008;8(4):511-23.
23. Plunkett W, Huang P, Gandhi V. Preclinical characteristics of gemcitabine. Anticancer Drugs. 1995;6(Suppl 6):7-13.
24. Mini E, Nobili S, Caciagli B, Landini I, Mazzei T. Cellular pharmacology of gemcitabine. Ann Oncol. 2006;17(Suppl 5):v7-12.
25. Bouffard DY, Laliberte J, Momparler RL. Kinetic studies on 2′, 2′-difluorodeoxycytidine (Gemcitabine) with purified human deoxycytidine kinase and cytidine deaminase. Biochem Pharmacol. 1993;45(9):1857-61.
26. Yonemori K, Ueno H, Okusaka T, Yamamoto N, Ikeda M, Saijo N, et al. Severe drug toxicity associated with a single-nucleotide polymorphism of the cytidine deaminase gene in a Japanese cancer patient treated with gemcitabine plus cisplatin. Clin Cancer Res. 2005;11(7):2620-4.
27. Sugiyama E, Kaniwa N, Kim SR, Kikura-Hanajiri R, Hasegawa R, Maekawa K, et al. Pharmacokinetics of gemcitabine in Japanese cancer patients: The impact of a cytidine deaminase polymorphism. J Clin Oncol. 2007;25(1):32-42.
28. Hong WK. The current status of docetaxel in solid tumors. An M. D. Anderson Cancer Center Review. Oncology (Williston Park). 2002;16(6 Suppl 6):9-15.
29. Baker SD, Li J, ten Tije AJ, Figg WD, Graveland W, Verweij J, et al. Relationship of systemic exposure to unbound docetaxel and neutropenia. Clin Pharmacol Ther. 2005;77(1):43-53.
30. Hirth J, Watkins PB, Strawderman M, Schott A, Bruno R, Baker LH. The effect of an individual's cytochrome CYP3A4 activity on docetaxel clearance. Clin Cancer Res. 2000;6(4):1255-8.
31. Huisman MT, Chhatta AA, van Tellingen O, Beijnen JH, Schinkel AH. MRP2 (ABCC2) transports taxanes and confers paclitaxel resistance and both processes are stimulated by probenecid. Int J Cancer. 2005;116(5):824-9.
32. Smith NF, Acharya MR, Desai N, Figg WD, Sparreboom A. Identification of OATP1B3 as a high-affinity hepatocellular transporter of paclitaxel. Cancer Biol Ther. 2005;4(8):815-8.
33. Kiyotani K, Mushiroda T, Kubo M, Zembutsu H, Sugiyama Y, Nakamura Y. Association of genetic polymorphisms in SLCO1B3 and ABCC2 with docetaxel-induced leukopenia. Cancer Sci. 2008;99(5):967-72.
34. Armstrong D, Pare P, Pericak D, Pyzyk M. Symptom relief in gastroesophageal reflux disease: A randomized, controlled comparison of pantoprazole and nizatidine in a mixed patient population with erosive esophagitis or endoscopy-negative reflux disease. Am J Gastroenterol. 2001;96(10):2849-57.
35. Henningsson A, Marsh S, Loos WJ, Karlsson MO, Garsa A, Mross K, et al. Association of CYP2C8, CYP3A4, CYP3A5, and ABCB1 polymorphisms with the pharmacokinetics of paclitaxel. Clin Cancer Res. 2005;11(22):8097-104.
36. Nakajima M, Fujiki Y, Kyo S, Kanaya T, Nakamura M, Maida Y, et al. Pharmacokinetics of paclitaxel in ovarian cancer patients and genetic polymorphisms of CYP2C8, CYP3A4, and MDR1. J Clin Pharmacol. 2005;45(6):674-82.
37. Chang SM, Kuhn JG, Rizzo J, Robins HI, Schold SC Jr, Spence AM, et al. Phase I study of paclitaxel in patients with recurrent malignant glioma: a North American Brain Tumor Consortium report. J Clin Oncol. 1998;16(6):2188-94.
38. Zeng-Rong N, Paterson J, Alpert L, Tsao MS, Viallet J, Alaoui-Jamali MA. Elevated DNA repair capacity is associated with intrinsic resistance of lung cancer to chemotherapy. Cancer Res. 1995;55(21):4760-4.
39. Furuta T, Ueda T, Aune G, Sarasin A, Kraemer KH, Pommier Y. Transcription-coupled nucleotide excision repair as a determinant of cisplatin sensitivity of human cells. Cancer Res. 2002;62(17):4899-902.
40. Hoeijmakers JH. Genome maintenance mechanisms for preventing cancer. Nature. 2001;411(6835):366-74.
41. Bradbury PA, Kulke MH, Heist RS, Zhou W, Ma C, Xu W et al. Cisplatin pharmacogenetics, DNA repair polymorphisms, and esophageal cancer outcomes. Pharmacogenet Genomics 2009;19(8):613-25.
42. Font A, Salazar R, Maurel J, Taron M, Ramirez JL, Tabernero J, et al. Cisplatin plus weekly CPT-11/docetaxel in advanced esophagogastric cancer: A phase I study with pharmacogenetic assessment of XPD, XRCC3 and UGT1A1 polymorphisms. Cancer Chemother Pharmacol. 2008;62(6):1075-83.
43. Goekkurt E, Hoehn S, Wolschke C, Wittmer C, Stueber C, Hossfeld DK, et al. Polymorphisms of glutathione S-transferases (GST) and thymidylate synthase (TS)-novel predictors for response and survival in gastric cancer patients. Br J Cancer. 2006;94(2):281-6.
44. Oldenburg J, Kraggerud SM, Brydoy M, Cvancarova M, Lothe RA, Fossa SD. Association between long-term neuro-toxicities in testicular cancer survivors and polymorphisms in glutathione-s-transferase-P1 and -M1, a retrospective cross sectional study. J Transl Med. 2007;5:70.
45. Oldenburg J, Kraggerud SM, Cvancarova M, Lothe RA, Fossa SD. Cisplatin-induced long-term hearing impairment is associated with specific glutathione S-transferase genotypes in testicular cancer survivors. J Clin Oncol. 2007;25(6):708-14.
46. Kuhn JG. Pharmacology of irinotecan. Oncology (Williston Park). 1998;12(8 Suppl 6):39-42.
47. Mathijssen RH, Marsh S, Karlsson MO, Xie R, Baker SD, Verweij J, et al. Irinotecan pathway genotype analysis to predict pharmacokinetics. Clin Cancer Res. 2003;9(9):3246-53.
48. Mackenzie PI, Owens IS, Burchell B, Bock KW, Bairoch A, Belanger A, et al. The UDP glycosyltransferase gene superfamily: Recommended nomenclature update based on evolutionary divergence. Pharmacogenetics. 1997;7(4):255-69.
49. Ando Y, Saka H, Asai G, Sugiura S, Shimokata K, Kamataki T. UGT1A1 genotypes and glucuronidation of SN-38, the active metabolite of irinotecan. Ann Oncol. 1998;9(8):845-7.
50. Ando Y, Saka H, Ando M, Sawa T, Muro K, Ueoka H, et al. Polymorphisms of UDP-glucuronosyltransferase gene and irinotecan toxicity: A pharmacogenetic analysis. Cancer Res. 2000;60(24):6921-6.
51. Onoue M, Inui K. Role of UGT1A1*28 and UGT1A1*6 for irinotecan-induced adverse drug reaction. Gan To Kagaku Ryoho. 2008;35(7):1080-5.
52. Yokoyama S, Imamura Y, Hatano N, Fukuoka T, Usui H, Morita Y. Two cases of advanced colorectal cancer with UGT1A1*28 homozygosity treated by FOLFIRI. Gan To Kagaku Ryoho. 2009;36(7):1159-61.
53. Nozawa T, Minami H, Sugiura S, Tsuji A, Tamai I. Role of organic anion transporter OATP1B1 (OATP-C) in hepatic uptake of irinotecan and its active metabolite, 7-ethyl-10-hydroxycamptothecin: In vitro evidence and effect of single nucleotide polymorphisms. Drug Metab Dispos. 2005;33(3):434-9.
54. Xiang X, Jada SR, Li HH, Fan L, Tham LS, Wong CI, et al. Pharmacogenetics of SLCO1B1 gene and the impact of *1b and *15 haplotypes on irinotecan disposition in Asian cancer patients. Pharmacogenet Genomics. 2006;16(9):683-91.
55. Takane H, Miyata M, Burioka N, Kurai J, Fukuoka Y, Suyama H, et al. Severe toxicities after irinotecan-based chemotherapy in a patient with lung cancer: A homozygote for the SLCO1B1*15 allele. Ther Drug Monit. 2007;29(5):666-8.
56. Murry DJ, Cherrick I, Salama V, Berg S, Bernstein M, Kuttesch N, et al. Influence of phenytoin on the disposition of irinotecan: A case report. J Pediatr Hematol Oncol. 2002;24(2):130-3.
57. Kuhn JG. Influence of anticonvulsants on the metabolism and elimination of irinotecan. A North American Brain Tumor Consortium preliminary report. Oncology (Williston Park). 2002;16(8 Suppl 7):33-40.
58. Moroni M, Veronese S, Benvenuti S, Marrapese G, Sartore-Bianchi A, Di Nicolantonio F, et al. Gene copy number for epidermal growth factor receptor (EGFR) and clinical response to antiEGFR treatment in colorectal cancer: A cohort study. Lancet Oncol. 2005;6(5):279-86.
59. Lievre A, Bachet JB, Le Corre D, Boige V, Landi B, Emile JF, et al. KRAS mutation status is predictive of response to cetuximab therapy in colorectal cancer. Cancer Res. 2006;66(8):3992-5.
60. Karapetis CS, Khambata-Ford S, Jonker DJ, O'Callaghan CJ, Tu D, Tebbutt NC, et al. K-ras mutations and benefit from cetuximab in advanced colorectal cancer. N Engl J Med. 2008;359(17):1757-65.
61. Nakajima M, Sawada H, Yamada Y, Watanabe A, Tatsumi M, Yamashita J, et al. The prognostic significance of amplification and overexpression of c-met and c-erb B-2 in human gastric carcinomas. Cancer. 1999;85(9):1894-902.
62. Orita H, Maehara Y, Emi Y, Kakeji Y, Baba H, Korenaga D, et al. c-erbB-2 expression is predictive for lymphatic spread of clinical gastric carcinoma. Hepatogastroenterology. 1997;44(13):294-8.
63. Rebischung C, Barnoud R, Stefani L, Faucheron JL, Mousseau M. The effectiveness of trastuzumab (Herceptin) combined with chemotherapy for gastric carcinoma with overexpression of the c-erbB-2 protein. Gastric Cancer. 2005;8(4):249-52.
64. Van Cutsem E, Kang Y, Chung H, Shen L, Sawaki A, Lordick F et al. Efficacy results from the ToGA trial: A phase III study of trastuzumab added to standard chemotherapy in first-line human epidermal growth factor receptor 2 (HER2)-positive advanced gastric cancer. ASCO 2009:ABs.No.LBA4509 (Abstract of ASCO 2009).