CYP2C19*2 polymorphism is associated with increased survival in breast cancer patients using tamoxifen

Papers of special note have been highlighted as: ▪ of interest ▪▪ of considerable interest

Bibliography

• 1  Karim-Kos HE, De Vries E, Soerjomataram I, Lemmens V, Siesling S, Coebergh JW: Recent trends of cancer in Europe: a combined approach of incidence, survival and mortality for 17 cancer sites since the 1990s. Eur. J. Cancer44(10),1345–1389 (2008).
  MedlineGoogle Scholar
• 2  Parkin DM, Bray F, Ferlay J, Pisani P: Global cancer statistics, 2002. CA Cancer J. Clin.55(2),74–108 (2005).
  MedlineGoogle Scholar
• 3  Early Breast Cancer Trialists’ Collaborative Group (EBCTCG): Effects of chemotherapy and hormonal therapy for early breast cancer on recurrence and 15-year survival: an overview of the randomised trials. Lancet365(9472),1687–1717 (2005).▪▪ Meta-analyses of 194 randomized trials of adjuvant chemotherapy or hormonal therapy; provided indirect evidence that 5 years of tamoxifen use is substantially more effective than 1–2 years use.
  MedlineGoogle Scholar
• 4  Jordan VC, Collins MM, Rowsby L, Prestwich G: A monohydroxylated metabolite of tamoxifen with potent antioestrogenic activity. J. Endocrinol.75(2),305–316 (1977).
  Medline CASGoogle Scholar
• 5  Johnson MD, Zuo H, Lee KH et al.: Pharmacological characterization of 4-hydroxy-n-desmethyl tamoxifen, a novel active metabolite of tamoxifen. Breast Cancer Res. Treat.85(2),151–159 (2004).
  Medline CASGoogle Scholar
• 6  Lien EA, Solheim E, Kvinnsland S, Ueland PM: Identification of 4-hydroxy-n-desmethyltamoxifen as a metabolite of tamoxifen in human bile. Cancer Res.48(8),2304–2308 (1988).
  Medline CASGoogle Scholar
• 7  Lim YC, Desta Z, Flockhart DA, Skaar TC: Endoxifen (4-hydroxy-n-desmethyl-tamoxifen) has anti-estrogenic effects in breast cancer cells with potency similar to 4-hydroxy-tamoxifen. Cancer Chemother. Pharmacol.55(5),471–478 (2005).
  Medline CASGoogle Scholar
• 8  Boocock DJ, Brown K, Gibbs AH, Sanchez E, Turteltaub KW, White IN: Identification of human CYP forms involved in the activation of tamoxifen and irreversible binding to DNA. Carcinogenesis23(11),1897–1901 (2002).
  Medline CASGoogle Scholar
• 9  Coller JK, Krebsfaenger N, Klein K et al.: The influence of CYP2B6, CYP2C9 and CYP2D6 genotypes on the formation of the potent antioestrogen z-4-hydroxy-tamoxifen in human liver. Br. J. Clin. Pharmacol.54(2),157–167 (2002).
  Medline CASGoogle Scholar
• 10  Crewe HH, Ellis SW, Lennard MS, Tucker GT: Variable contribution of cytochromes P450 2D6, 2C9 and 3A4 to the 4-hydroxylation of tamoxifen by human liver microsomes. Biochem. Pharmacol.53(2),171–178 (1997).
  Medline CASGoogle Scholar
• 11  Crewe HK, Notley LM, Wunsch RM, Lennard MS, Gillam EM: Metabolism of tamoxifen by recombinant human cytochrome p450 enzymes: formation of the 4-hydroxy, 4’-hydroxy and n-desmethyl metabolites and isomerization of trans-4-hydroxytamoxifen. Drug Metab. Dispos.30(8),869–874 (2002).
  Medline CASGoogle Scholar
• 12  Dehal SS, Kupfer D: CYP2D6 catalyzes tamoxifen 4-hydroxylation in human liver. Cancer Res.57(16),3402–3406 (1997).
  Medline CASGoogle Scholar
• 13  Desta Z, Ward BA, Soukhova NV, Flockhart DA: Comprehensive evaluation of tamoxifen sequential biotransformation by the human cytochrome p450 system in vitro: prominent roles for CYP3A and CYP2D6. J. Pharmacol. Exp. Ther.310(3),1062–1075 (2004).
  Medline CASGoogle Scholar
• 14  Poon GK, Chui YC, Mccague R et al.: Analysis of phase I and phase II metabolites of tamoxifen in breast cancer patients. Drug Metab. Dispos.21(6),1119–1124 (1993).
  Medline CASGoogle Scholar
• 15  Jin Y, Desta Z, Stearns V et al.: CYP2D6 genotype, antidepressant use, and tamoxifen metabolism during adjuvant breast cancer treatment. J. Natl Cancer Inst.97(1),30–39 (2005).
  Medline CASGoogle Scholar
• 16  Stearns V, Johnson MD, Rae JM et al.: Active tamoxifen metabolite plasma concentrations after coadministration of tamoxifen and the selective serotonin reuptake inhibitor paroxetine. J. Natl Cancer Inst.95(23),1758–1764 (2003).▪ Emphasized the potential importance of pharmacogenetic consideration in the assessment of the efficacy of tamoxifen.
  Medline CASGoogle Scholar
• 17  Borges S, Desta Z, Li L et al.: Quantitative effect of CYP2D6 genotype and inhibitors on tamoxifen metabolism: implication for optimization of breast cancer treatment. Clin. Pharmacol. Ther.80(1),61–74 (2006).
  Medline CASGoogle Scholar
• 18  Bijl MJ, Van Schaik RH, Lammers LA et al.: The CYP2D6*4 polymorphism affects breast cancer survival in tamoxifen users. Breast Cancer Res. Treat.118(1),125–130 (2009).
  Medline CASGoogle Scholar
• 19  Goetz MP, Knox SK, Suman VJ et al.: The impact of cytochrome p450 2D6 metabolism in women receiving adjuvant tamoxifen. Breast Cancer Res. Treat.101(1),113–121 (2007).
  Medline CASGoogle Scholar
• 20  Goetz MP, Rae JM, Suman VJ et al.: Pharmacogenetics of tamoxifen biotransformation is associated with clinical outcomes of efficacy and hot flashes. J. Clin. Oncol.23(36),9312–9318 (2005).▪ First paper to describe women using adjuvant tamoxifen had a higher risk of breast cancer recurrence and a lower incidence of hot flashes when they had the CYP2D6*4/*4 genotype.
  Medline CASGoogle Scholar
• 21  Schroth W, Antoniadou L, Fritz P et al.: Breast cancer treatment outcome with adjuvant tamoxifen relative to patient CYP2D6 and CYP2C19 genotypes. J. Clin. Oncol.25(33),5187–5193 (2007).
  Medline CASGoogle Scholar
• 22  Kiyotani K, Mushiroda T, Imamura CK et al.: Significant effect of polymorphisms in CYP2D6 and ABCC2 on clinical outcomes of adjuvant tamoxifen therapy for breast cancer patients. J. Clin. Oncol.28(8),1287–1293 (2010).
  Medline CASGoogle Scholar
• 23  Newman WG, Hadfield KD, Latif A et al.: Impaired tamoxifen metabolism reduces survival in familial breast cancer patients. Clin. Cancer Res.14(18),5913–5918 (2008).
  Medline CASGoogle Scholar
• 24  Ramon Y Cajal T, Altes A, Pare L et al.: Impact of CYP2D6 polymorphisms in tamoxifen adjuvant breast cancer treatment. Breast Cancer Res. Treat.119(1),33–38
  MedlineGoogle Scholar
• 25  Schroth W, Goetz MP, Hamann U et al.: Association between CYP2D6 polymorphisms and outcomes among women with early stage breast cancer treated with tamoxifen. JAMA302(13),1429–1436 (2009).
  Medline CASGoogle Scholar
• 26  Dezentje VO, Guchelaar HJ, Nortier JW, Van De Velde CJ, Gelderblom H: Clinical implications of CYP2D6 genotyping in tamoxifen treatment for breast cancer. Clin. Cancer Res.15(1),15–21 (2009).
  Medline CASGoogle Scholar
• 27  Nowell SA, Ahn J, Rae JM et al.: Association of genetic variation in tamoxifen-metabolizing enzymes with overall survival and recurrence of disease in breast cancer patients. Breast Cancer Res. Treat.91(3),249–258 (2005).
  Medline CASGoogle Scholar
• 28  Wegman P, Elingarami S, Carstensen J, Stal O, Nordenskjold B, Wingren S: Genetic variants of CYP3A5, CYP2D6, SULT1A1, UGT2B15 and tamoxifen response in postmenopausal patients with breast cancer. Breast Cancer Res.9(1),R7 (2007).
  MedlineGoogle Scholar
• 29  Wegman P, Vainikka L, Stal O et al.: Genotype of metabolic enzymes and the benefit of tamoxifen in postmenopausal breast cancer patients. Breast Cancer Res.7(3),R284–290 (2005).
  Medline CASGoogle Scholar
• 30  Okishiro M, Taguchi T, Jin Kim S, Shimazu K, Tamaki Y, Noguchi S: Genetic polymorphisms of CYP2D6*10 and CYP2C19*2,*3 are not associated with prognosis, endometrial thickness, or bone mineral density in Japanese breast cancer patients treated with adjuvant tamoxifen. Cancer,115(5),952–961 (2009).
  Medline CASGoogle Scholar
• 31  Lash TL, Lien EA, Sorensen HT, HamiltonDutoit S: Genotype-guided tamoxifen therapy: time to pause for reflection? Lancet Oncol.10(8),825–833 (2009).
  Medline CASGoogle Scholar
• 32  Ferraldeschi R, Newman WG: The impact of CYP2D6 genotyping on tamoxifen treatment. Pharmaceuticals3,1122–1138 (2010).
  Medline CASGoogle Scholar
• 33  Serrano D, Lazzeroni M, Zambon CF et al.: Efficacy of tamoxifen based on cytochrome p450 2D6, CYP2C19 and SULT1A1 genotype in the italian tamoxifen prevention trial. Pharmacogenomics J. (2010) (Epub ahead of print).
  MedlineGoogle Scholar
• 34  Berns P, Kok M, Sweep F et al.: CYP-2C19*2 predicts favorable outcome of tamoxifen treatment for advanced breast cancer. 32nd Annual CTRC-AACR San Antonio Breast Cancer Symposium (2009).
  Google Scholar
• 35  Tamminga WJ, Wemer J, Oosterhuis B, De Zeeuw RA, De Leij LF, Jonkman JH: The prevalence of CYP2D6 and CYP2C19 genotypes in a population of healthy Dutch volunteers. Eur. J. Clin. Pharmacol.57(10),717–722 (2001).
  Medline CASGoogle Scholar
• 36  Shi S, Klotz U: Proton pump inhibitors: an update of their clinical use and pharmacokinetics. Eur. J. Clin. Pharmacol.64(10),935–951 (2008).
  Medline CASGoogle Scholar
• 37  Hofman A, Breteler MM, Van Duijn CM et al.: The Rotterdam study: 2010 objectives and design update. Eur. J. Epidemiol.24(9),553–572 (2009).
  MedlineGoogle Scholar
• 38  Hofman A, Breteler MM, Van Duijn CM et al.: The Rotterdam study: Objectives and design update. Eur. J. Epidemiol.22(11),819–829 (2007).
  MedlineGoogle Scholar
• 39  Hofman A, Grobbee DE, De Jong PT, Van Den Ouweland FA: Determinants of disease and disability in the elderly: the Rotterdam elderly study. Eur. J. Epidemiol.7(4),403–422 (1991).
  Medline CASGoogle Scholar
• 40  Stricker BH, Stijnen T: Analysis of individual drug use as a time-varying determinant of exposure in prospective population-based cohort studies. Eur. J. Epidemiol.25(4),245–251 (2010)
  MedlineGoogle Scholar
• 41  Rebsamen MC, Desmeules J, Daali Y et al.: The amplichip CYP450 test: cytochrome P450 2D6 genotype assessment and phenotype prediction. Pharmacogenomics J.9(1),34–41 (2009).
  Medline CASGoogle Scholar
• 42  Justenhoven C, Hamann U, Pierl CB et al.: CYP2C19*17 is associated with decreased breast cancer risk. Breast Cancer Res. Treat115(2),391–396 (2008).
  MedlineGoogle Scholar
• 43  Dezentje VO, Van Blijderveen NJ, Gelderblom H et al.: Effect of concomitant CYP2D6 inhibitor use and tamoxifen adherence on breast cancer recurrence in early-stage breast cancer. J. Clin. Oncol.28(14),2423–2429
  MedlineGoogle Scholar
• 44  Kinne DW, Butler JA, Kimmel M, Flehinger BJ, Menendez-Botet C, Schwartz M: Estrogen receptor protein of breast cancer in patients with positive nodes. High recurrence rates in the postmenopausal estrogen receptor-negative group. Arch. Surg.122(11),1303–1306 (1987).
  Medline CASGoogle Scholar
• 101  WHO international statistical classification of diseases and related health problems, 10th revision (1992) www.who.int/classifications/icd/en
  Google Scholar