Polymorphisms of phase I and phase II enzymes and breast cancer risk

Frontiers in Genetics

Volumn 3, Issue NOV, 2012, Pages

  Justenhoven, Christina ^a,b  

^a DR MARGARETE FISCHER BOSCH INSTITUTE OF CLINICAL PHARMACOLOGY   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

Breast cancer risk; Phase I and II metabolism; Polymorphisms; Sequence homology; Tumor histopathology

Indexed keywords

EID: 84876128222     PISSN: None     EISSN: 16648021     Source Type: Journal    
DOI: 10.3389/fgene.2012.00258     Document Type: Review

References (78)

1. Antoniou, A., Pharoah, P. D., Narod, S., Risch, H. A., Eyfjord, J. E., Hopper, J. L., et al. (2003). Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am. J. Hum. Genet. 72, 1117-1130.
2. Beral, V., and Million Women Study Collaborators. (2003). Breast cancer and hormone-replacement therapy in the Million Women Study. Lancet 362,419-427.
3. Bock, K. W., and Kohle, C. (2005). UDP-glucuronosyltransferase 1A6: structural, functional, and regulatory aspects. Methods Enzymol. 400, 57-75.
4. Brauch, H., Schroth, W., Goetz, M. P., Muerdter, T. E., Winter, S., Ingle, J. N., et al. (2012). Tamoxifen use in postmenopausal breast cancer: CYP2D6 matters. J. Clin. Oncol. [Epub ahead of print].
5. Brockstedt, U., Krajinovic, M., Richer, C., Mathonnet, G., Sinnett, D., Pfau, W., et al. (2002). Analyses of bulky DNA adduct levels in human breast tissue and genetic polymorphisms of cytochromes P450 (CYPs), myeloperoxidase (MPO), quinone oxidoreductase (NQO1), and glutathione S-transferases (GSTs). Mutat.Res. 516, 41-47.
6. Cheng,Z.N., Shu, Y.,Liu,Z.Q., Wang, L. S., Ou-Yang, D. S., and Zhou, H. H. (2001). Role of cytochrome P450 in estradiol metabolism in vitro. Acta Pharmacol. Sin. 22, 148-154.
7. Clemons, M.,and Goss,P. (2001). Estrogen and the risk of breast cancer. N. Engl. J. Med. 344, 276-285.
8. Collaborative Group on Hormonal Factors in Breast Cancer. (1996). Breast cancer and hormonal contraceptives: collaborative reanalysis of individual data on 53 297 women with breast cancer and 100 239 women without breast cancer from 54 epidemiological studies. Lancet 347, 1713-1727.
9. Collaborative Group on Hormonal Factors in Breast Cancer. (2001). Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease. Lancet 358, 1389-1399.
10. Cox, A., Dunning, A. M., Garcia-Closas, M., Balasubramanian, S., Reed, M. W., Pooley, K. A., et al. (2007). A common coding variant in CASP8 is associated with breast cancer risk. Nat. Genet. 39, 352-358.
11. Cribb, A. E., Knight, M. J., Dryer, D., Guernsey, J., Hender, K., Tesch, M., et al. (2006). Role of polymorphic human cytochrome P450 enzymes in estrone oxidation. Cancer Epidemiol. Biomarkers Prev. 15, 551-558.
12. Easton, D. F., Pooley, K. A., Dunning, A. M., Pharoah, P. D., Thompson, D., Ballinger, D. G., et al. (2007). Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447, 1087-1093.
13. Economopoulos, K. P., and Sergentanis, T. N. (2010). Three polymorphisms in cytochrome P450 1B1 (CYP1B1) gene and breast cancer risk: a meta-analysis. Breast Cancer Res. Treat. 122,545-551.
14. Eliassen, A. H., Missmer, S. A., Tworoger, S. S., and Hankinson, S. E. (2006). Endogenous steroid hormone concentrations and risk of breast cancer: does the association vary by a woman's predicted breast cancer risk? J. Clin. Oncol. 24, 1823-1830.
15. Flesch-Janys, D., Slanger, T., Mutschelknauss, E., Kropp, S., Obi, N., Vettorazzi, E., et al. (2008). Risk of different histological types of postmenopausal breast cancer by type and regimen of menopausal hormone therapy. Int. J. Cancer 123, 933-941.
16. Gadducci, A., Biglia, N., Sismondi, P., and Genazzani, A. R. (2005). Breast cancer and sex steroids: critical review of epidemiological, experimental, and clinical investigations on etiopathogenesis, chemoprevention and endocrine treatment of breast cancer. Gynecol. Endocrinol. 20,343-360.
17. Gamazon, E. R., Skol, A. D., and Perera, M. A. (2012). The limits of genome-wide methods for pharma-cogenomic testing. Pharmacogenet. Genomics 22,261-272.
18. Gan, C. Q., Wang, X. Y., Cao, Y D., Ye, W. X., Liu, H., and Sun, Y. Y. (2011). Association of CYP2C19*3 gene polymorphism with breast cancer in Chinese women. Genet. Mol. Res. 10,3514-3519.
19. Gellner, K., Eiselt, R., Hustert, E., Arnold, H., Koch, I., Haberl, M., et al. (2001). Genomic organization of the human CYP3A locus: identification of anew, inducible CYP3Agene. Pharmacogenetics 11, 111-121.
20. Gruber, C. J., Tschugguel, W., Schnee-berger, C., and Huber, J. C. (2002). Pro duction and actions of estrogens. N. Engl. J. Med. 346, 340-352.
21. Guengerich,F. P. (1999). CytochromeP-450 3A4: regulation and role in drug metabolism. Annu. Rev. Pharmacol. Toxicol. 39, 1-17.
22. Hachey, D. L., Dawling, S., Roodi, N., and Parl, F. F. (2003). Sequential action of phase I and II enzymes cytochrome p450 1B1 and glutathione S-transferase P1 in mammary estrogen metabolism. Cancer Res. 63, 8492-8499.
23. Harding, D., Fournel-Gigleux, S., Jackson, M. R., and Burchell, B. (1988). Cloning and substrate specificity of a human phenol UDP-glucuronosyltransferase expressed in COS-7 cells. Proc. Natl. Acad. Sci. U.S.A. 85, 8381-8385.
24. Hayes, J. D., and Pulford, D. J. (1995). The glutathione S-transferase super-gene family: regulation of GST and the contribution of the isoenzymes to cancer chemoprotection and drug resistance. Crit. Rev. Biochem. Mol. Biol. 30, 445-600.
25. Hempel, N., Negishi, M., and McManus, M.E. (2005).HumanSULT1Agenes: cloning and activity assays of the SULT1A promoters. Meth. Enzymol. 400,147-165.
26. Henderson, B. E., and Feigelson, H. S. (2000). Hormonal carcinogenesis. Carcinogenesis 21,427-433.
27. Jernstrom, H., Bageman, E., Rose, C., Jonsson, P. E., and Ingvar, C. (2009). CYP2C8 and CYP2C9 polymorphisms in relation to tumour characteristics and early breast cancer related events among 652 breast cancer patients. Br. J. Cancer 101, 1817-1823.
28. Jiang, Y., Zhou, L., Yan, T., Shen, Z., Shao, Z., and Lu, J. (2010). Association of sulfotransferase SULT1A1 with breast cancer risk: a meta-analysis of case-control studies with subgroups of ethnic and menopausal statue. J. Exp. Clin. Cancer Res. 29, 101.
29. Johnson, N., Walker, K., Gibson, L. J., Orr, N., Folkerd, E., Haynes, B., et al. (2012). CYP3A variation, premenopausal estrone levels, and breast cancer risk. J. Natl. Cancer Inst. 104, 657-669.
30. Justenhoven, C., Obazee, O., Winter, S., Couch, F. J., Olson, J. E., Hall, P., et al. (2012). The postmenopausal hormone replacement therapy-related breast cancer risk is decreased in women carrying the CYP2C19*17 variant. Breast Cancer Res. Treat. 131, 347-350.
31. Justenhoven, C., Winter, S., Hamann, U., Haas, S., Fischer, H. P., Pesch, B., et al. (2010). The frameshift polymorphism CYP3A43_74_delA is associated with poor differentiation of breast tumors. Cancer 116, 5358-5364.
32. Kahlenborn, C., Modugno, F., Potter, D. M., and Severs, W. B. (2006). Oral contraceptive use as a risk factor for premenopausal breast cancer: a meta-analysis. Mayo Clin. Proc. 81, 1290-1302.
33. Key, T., Appleby, P., Barnes, I., Reeves, G., and Endogenous Hormones and Breast Cancer Collaborative Group. (2002a). Endogenous sex hormones and breast cancer in postmenopausal women: reanalysis of nine prospective studies. J. Natl. Cancer Inst. 94, 606-616.
34. Key, T. J., Allen, N. E., Spencer, E. A., and Travis, R. C. (2002b). The effect of diet on risk of cancer. Lancet 360, 861-868.
35. Lambrechts, D., Truong, T., Justenhoven, C., Humphreys, M. K., Wang, J., Hopper, J. L., et al. (2012). 11q13 is a susceptibility locus for hormone receptor positive breast cancer. Hum. Mutat. 33,1123-1132.
36. Liu, S., and Lin, Y C. (2004). Transformation of MCF-10A human breast epithelial cells by zeranol and estradiol-17 beta. Breast J. 10, 514-521.
37. Malone, K. E., Daling, J. R., Doody, D. R., Hsu, L., Bernstein, L., Coates, R. J., et al. (2006). Prevalence and predictors of BRCA1 and BRCA2 mutations in a Population-based study of breast cancer in white and black American women ages 35 to 64 years. Cancer Res. 66, 8297-8308.
38. Meijers-Heijboer, H., van den Ouweland, A., Klijn, J., Wasielewski, M., de Snoo, A., Oldenburg, R., et al. (2002). Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in non carriers of BRCA1 or BRCA2 mutations. Nat. Genet. 31,55-59.
39. Meyer, U. A., Zanger, U. M., and Schwab, M. (2012). Omics and drug response. Annu. Rev. Pharmacol. Toxicol. [Epub ahead of print].
40. Miki, Y., Swensen, J., Shattuck-Eidens, D., Futreal, P. A., Harshman, K., Tavtigian, S., et al. (1994). A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266, 66-71.
41. Moore, M. R., Spence, J. B., Kiningham, K. K., and Dillon, J. L. (2006). Progestin inhibition of cell death in human breast cancer cell lines. J. Steroid Biochem. Mol. Biol. 98, 218-227.
42. Morike, K., Kivisto, K. T., Schaeffeler, E., Jagle, C., Igel, S., Drescher, S., et al. (2008). Propafenone for the prevention of atrial tachyarrhythmias after cardiac surgery: a randomized, double-blind placebo-controlled trial. Clin. Pharmacol. Ther. 84, 104-110.
43. Nandi, S., Guzman, R. C., and Yang, J. (1995). Hormones and mammary carcinogenesis in mice, rats, and humans: a unifying hypothesis. Proc. Natl. Acad. Sci. U.S.A. 92, 3650-3657.
44. Nelson, D. R., Zeldin, D. C., Hoffman, S. M., Maltais, L. J., Wain, H. M., and Nebert, D. W. (2004). Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants. Pharmacogenetics 14,1-18.
45. Pawlak, K. J., and Wiebe, J. P. (2007). Regulation of estrogen receptor (ER) levels in MCF-7 cells by progesterone metabolites. J. Steroid Biochem. Mol. Biol. 107, 172-179.
46. Pesch, B., Ko, Y., Brauch, H., Hamann, U., Harth, V., Rabstein, S., et al. (2005). Factors modifying the association between hormone-replacement therapy and breast cancer risk. Eur. J. Epidemiol. 20, 699-711.
47. Poutanen, M., Isomaa, V., Peltoketo, H., and Vihko, R. (1995). Role of 17 beta-hydroxysteroid dehydrogenase type 1 in endocrine and intracrine estradiol biosynthesis. J. Steroid Biochem. Mol. Biol. 55, 525-532.
48. Rahman, N., Seal, S., Thompson, D., Kelly, P., Renwick, A., Elliott, A., et al. (2007). PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat. Genet. 39,165-167.
49. Rebbeck, T. R., Walker, A. H., Phelan, C. M., Godwin, A. K., Buetow, K. H., Garber, J. E., et al. (1997). Defining etiologic heterogeneity in breast cancer using genetic biomarkers. Prog. Clin. Biol. Res. 396, 53-61.
50. Reszka, E., Wasowicz, W., and Gromadzinska, J. (2006). Genetic polymorphism of xenobiotic metabolising enzymes, diet, and cancer susceptibility. Br. J. Nutr. 96, 609-619.
51. Rossouw, J. E., Anderson, G. L., Prentice, R. L., LaCroix, A. Z., Kooperberg, C., Stefanick, M. L., et al. (2002). Risks and benefits of estrogen plus progestin in healthy postmenopausal women: principal results From the Women's Health Initiative randomized controlled trial. JAMA 288, 321-333.
52. Salinas, A. E., and Wong, M. G. (1999). Glutathione S-transferases-a review. Curr. Med. Chem. 6, 279-309.
53. Schaeffeler, E., Schwab, M., Eichelbaum, M., and Zanger, U. M. (2003). CYP2D6 genotyping strategy based on gene copy number determination by TaqMan real-time PCR. Hum. Mutat. 22,476-485.
54. Schindler, A. E., Campagnoli, C., Druckmann, R., Huber, J., Pasqualini, J. R., Schweppe, K. W., et al. (1998). Aspects of progestin activity on the breast. European progestin club. Maturitas 29, 61-65.
55. Schroth, W., Goetz, M. P., Hamann, U., Fasching, P. A., Schmidt, M., Winter, S., et al. (2009). Association between CYP2D6 polymorphisms and outcomes among women with early stage breast cancer treated with tamoxifen. JAMA 302, 1429-1436.
56. Seeger, H., Wallwiener, D., and Mueck, A. O. (2003). The effect of progesterone and synthetic progestins on serum-and estradiol-stimulated proliferation of human breast cancer cells. Horm. Metab. Res. 35, 76-80.
57. Sergentanis, T. N., and Economopoulos, K. P. (2010). Four polymorphisms in cytochrome P450 1A1 (CYP1A1) gene and breast cancer risk: a meta-analysis. Breast Cancer Res. Treat. 122,459-469.
58. Shyamala, G., Chou, Y C, Louie, S. G., Guzman, R. C., Smith, G. H., and Nandi, S. (2002). Cellular expression of estrogen and progesterone receptors in mammary glands: regulation by hormones, development and aging. J. Steroid Biochem. Mol. Biol. 80,137-148.
59. Sim, E., Lack, N., Wang, C. J., Long, H., Westwood, I., Fullam, E., et al. (2008). Arylamine N-acetyltransferases: structural and functional implications of polymorphisms. Toxicology 254, 170-183.
60. Smith, C. A., Smith, G., and Wolf, C. R. (1994). Genetic polymorphisms in xenobiotic metabolism. Eur. J. Cancer 30A, 1921-1935.
61. Steck, S. E., Gaudet, M. M., Britton, J. A., Teitelbaum, S. L., Terry, M. B., Neugut, A. I., et al. (2007). Interactions among GSTM1, GSTT1 and GSTP1 polymorphisms, cruciferous vegetable intake, and breast cancer risk. Carcinogenesis 28,1954-1959.
62. Strange, R. C., Spiteri, M. A., Ramachandran, S., and Fryer, A. A. (2001). Glutathione-S-transferase family of enzymes. Mutat. Res. 482,21-26.
63. Terry, P. D., and Goodman, M. (2006). Is the association between cigarette smoking and breast cancer modified by genotype? A review of epidemiologic studies and meta-analysis. Cancer Epidemiol. Biomarkers Prev. 15,602-611.
64. The CHEK2 Breast Cancer Case-Control Consortium. (2004). CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am. J. Hum. Genet. 74,1175-1182.
65. The MARIE-GENICA Consortium on Genetic Susceptibility for Menopausal Hormone Therapy Related Breast Cancer Risk. (2010). Genetic polymorphisms in phase I and phase II enzymes and breast cancer risk associated with menopausal hormone therapy in postmenopausal women. Breast Cancer Res. Treat. 119,463-474.
66. Thompson, P. A., and Ambrosone, C. (2000). Molecular epidemiology of genetic polymorphisms in estrogen metabolizing enzymes in human breast cancer. J. Natl. Cancer Inst. Monographs 27, 125-134.
67. Tukey, R. H., and Strassburg, C. P. (2001). Genetic multiplicity of the human UDP-glucuronosyltransferas and regulation in the gastrointestinal tract. Mol. Pharmacol. 59,405-414.
68. Turan, V. K., Sanchez, R. I., Li, J. J., Li, S. A., Reuhl, K. R., Thomas, P. E., et al. (2004). The effects of steroidal estrogens in ACI rat mammary carcinogenesis: 17beta-estradiol, 2-hydroxyestradiol,4-hydroxyestradiol, 16alpha hydroxyestradiol, and 4-hydroxyestrone. J. Endocrinol. 183,91-99.
69. Turesky, R. J. (2004). The role of genetic polymorphisms in metabolism of carcinogenic heterocyclic aromatic amines. Curr. Drug Metab. 5, 169-180.
70. Van Emburgh, B. O., Hu, J. J., Levine, E. A., Mosley, L. J., Perrier, N. D., Freimanis, R. I., et al. (2008). Polymorphisms in CYP1B1, GSTM1, GSTT1, and GSTP1, and susceptibility to breast cancer. Oncol. Rep. 19, 1311-1321.
71. Walsh, T., Casadei, S., Coats, K. H., Swisher, E., Stray, S. M., Higgins, J., et al. (2006). Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 295,1379-1388.
72. Windmill, K. F., McKinnon, R. A., Zhu, X., Gaedigk, A., Grant, D. M., and McManus, M. E. (1997). The role of xenobiotic metabolizing enzymes in arylamine toxicity and carcinogenesis: functional and localization studies. Mutat. Res. 376, 153-160.
73. Wooster, R., Bignell, G., Lancaster, J., Swift, S., Seal, S., Mangion, J., et al. (1995). Identification of the breast cancer susceptibility gene BRCA2. Nature 378, 789-792.
74. Wooster, R., and Weber, B. L. (2003). Breast and ovarian cancer. N Engl. J. Med. 348, 2339-2347.
75. Yager, J. D., and Davidson, N. E. (2006). Estrogen carcinogenesis in breast cancer. N. Engl. J. Med. 354,270-282.
76. Yamazaki, H., and Shimada, T. (1997). Progesterone and testosterone hydroxylation by cytochromes P450 2C19, 2C9, and 3A4 in human liver microsomes. Arch. Biochem. Biophys. 346,161-169.
77. Yang, G., Gao,Y T., Cai, Q. Y.,Shu,X. O., Cheng, J. R., and Zheng, W. (2005). Modifying effects of sulfotransferase 1A1 gene polymorphism on the association of breast cancer risk with body mass index or endogenous steroid hormones. Breast Cancer Res. Treat. 94, 63-70.
78. Yue, W., Santen, R. J., Wang, J. P., Li, Y., Verderame, M. F., Bocchinfuso, W. P., et al. (2003). Genotoxic metabolites of estradiol in breast: potential mechanism of estradiol induced carcinogenesis. J. Steroid Biochem. Mol. Biol. 86, 477-486.