Loss of heterozygosity at the CYP2D6 locus in breast cancer: Implications for germline pharmacogenetic studies

Journal of the National Cancer Institute

Volumn 107, Issue 2, 2015, Pages

  Goetz, Matthew P ^a,b   Sun, James X ^e   Suman, Vera J ^a   Silva, Grace O ^c   Perou, Charles M ^c   Nakamura, Yusuke ^d   Cox, Nancy J ^d   Stephens, Philip J ^e   Miller, Vincent A ^e   Ross, Jeffrey S ^e,g   Chen, David ^f   Safgren, Stephanie L ^b   Kuffel, Mary J ^b   Ames, Matthew M ^a,b   Kalari, Krishna R ^a   Gomez, Henry L ^h,k   Gonzalez Angulo, Ana M ⁱ   Burgues, Octavio ⁱ   Brauch, Hiltrud B ^j   Ingle, James N ^a   Ratain, Mark J ^d   Yelensky, Roman ^e   more..

^a MAYO CLINIC   (United States)

^b MAYO GRADUATE SCHOOL   (United States)

^c UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^d University of Chicago   (United States)

^e FOUNDATION MEDICINE   (United States)

^f NOVARTIS PHARMA AG   (Switzerland)

^g ALBANY MEDICAL COLLEGE   (United States)

^h VANDERBILT UNIVERSITY   (United States)

ⁱ UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^j UNIVERSITY OF TÜBINGEN   (Germany)

^k INSTITUTO NACIONAL DE ENFERMEDADES NEOPLÁSICAS   (Peru)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 2D6; DNA; ESTROGEN RECEPTOR; ANTINEOPLASTIC HORMONE AGONISTS AND ANTAGONISTS; EPIDERMAL GROWTH FACTOR RECEPTOR 2; ERBB2 PROTEIN, HUMAN; FORMALDEHYDE; PARAFFIN; TAMOXIFEN; TUMOR MARKER;

ARTICLE; BREAST CANCER; CHEEK CELL; CONTROLLED STUDY; GENE DOSAGE; GENE LOCUS; GENOTYPE; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; PHARMACOGENETICS; PRIORITY JOURNAL; ADULT; AGED; BREAST NEOPLASMS; CHEMISTRY; DISEASE FREE SURVIVAL; FEMALE; GENETICS; MIDDLE AGED; MOUTH MUCOSA; SURVIVAL; TISSUE FIXATION;

ADULT; AGED; ANTINEOPLASTIC AGENTS, HORMONAL; BREAST NEOPLASMS; CYTOCHROME P-450 CYP2D6; DISEASE-FREE SURVIVAL; DNA, NEOPLASM; FEMALE; FORMALDEHYDE; GENOTYPE; HUMANS; LOSS OF HETEROZYGOSITY; MIDDLE AGED; MOUTH MUCOSA; PARAFFIN EMBEDDING; RECEPTOR, ERBB-2; RECEPTORS, ESTROGEN; SURVIVAL ANALYSIS; TAMOXIFEN; TISSUE FIXATION; TUMOR MARKERS, BIOLOGICAL;

EID: 84925547651     PISSN: 00278874     EISSN: 14602105     Source Type: Journal    
DOI: 10.1093/jnci/dju401     Document Type: Article

References (28)

1. 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. 2003;95(23):1758-1764.
2. Murdter TE, Schroth W, Bacchus-Gerybadze L, et al. Activity levels of tamoxifen metabolites at the estrogen receptor and the impact of genetic polymorphisms of phase I and II enzymes on their concentration levels in plasma. Clin Pharmacol Ther. 2011;89(5):708-717.
3. Brauch H, Schwab M. Prediction of tamoxifen outcome by genetic variation of CYP2D6 in post-menopausal women with early breast cancer. Br J Clin Pharmacol. 2014;77(4):695-703.
4. 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. 2005;23(36):9312-9318.
5. Rae JM, Drury S, Hayes DF, et al. CYP2D6 and UGT2B7 genotype and risk of recurrence in tamoxifen-treated breast cancer patients. J Natl Cancer Inst. 2012;104(6):452-460.
6. Regan MM, Leyland-Jones B, Bouzyk M, et al. CYP2D6 genotype and tamoxifen response in postmenopausal women with endocrine-responsive breast cancer: the breast international group 1-98 trial. J Natl Cancer Inst. 2012;104(6):441-451.
7. Goetz MP, Suman VJ, Hoskin TL, et al. CYP2D6 metabolism and patient outcome in the Austrian Breast and Colorectal Cancer Study Group trial (ABCSG) 8. Clin Cancer Res. 2013;19(2):500-507.
8. Nakamura Y, Ratain MJ, Cox NJ, et al. Re: CYP2D6 genotype and tamoxifen response in postmenopausal women with endocrineresponsive breast cancer: the Breast International Group 1-98 trial. J Natl Cancer Inst. 2012;104(16):1264; author reply 1266-1268.
9. Stanton V Jr. Re: CYP2D6 genotype and tamoxifen response in postmenopausal women with endocrine-responsive breast cancer: the Breast International Group 1-98 trial. J Natl Cancer Inst. 2012;104(16):1265-1266; author reply 1266-1268.
10. Pharoah PD, Abraham J, Caldas C. Re: CYP2D6 genotype and tamoxifen response in postmenopausal women with endocrine-responsive breast cancer: the Breast International Group 1-98 trial and Re: CYP2D6 and UGT2B7 genotype and risk of recurrence in tamoxifen-treated breast cancer patients. J Natl Cancer Inst. 2012;104(16):1263-1264; author reply 1266-1268.
11. Castells A, Gusella JF, Ramesh V, et al. A region of deletion on chromosome 22q13 is common to human breast and colorectal cancers. Cancer Res. 2000;60(11):2836-2839.
12. Hirano A, Emi M, Tsuneizumi M, et al. Allelic losses of loci at 3p25.1, 8p22, 13q12, 17p13.3, and 22q13 correlate with postoperative recurrence in breast cancer. Clin Cancer Res. 2001;7(4):876-882.
13. Comprehensive molecular portraits of human breast tumours. Nature. 2012;490(7418):61-70.
14. Jeselsohn R, Yelensky R, Buchwalter G, et al. Emergence of constitutively active estrogen receptor-alpha mutations in pretreated advanced estrogen receptor-positive breast cancer. Clin Cancer Res. 2014;20(7):1757-1567.
15. Goetz MP, Suman VJ, Ingle JN, et al. A two-gene expression ratio of homeobox 13 and interleukin-17B receptor for prediction of recurrence and survival in women receiving adjuvant tamoxifen. Clin Cancer Res. 2006;12(7)(Pt 1):2080-2087.
16. Schroth W, Goetz MP, Hamann U, et al. Association between CYP2D6 polymorphisms and outcomes among women with early stage breast cancer treated with tamoxifen. JAMA. 2009;302(13):1429-1436.
17. Brauch H, Schroth W, Goetz MP, et al. Tamoxifen use in postmenopausal breast cancer: CYP2D6 matters. J Clin Oncol. 2013;31(2):176-180.
18. Weigman VJ, Chao HH, Shabalin AA, et al. Basal-like Breast cancer DNA copy number losses identify genes involved in genomic instability, response to therapy, and patient survival. Breast Cancer Res Treat. 2012;133(3):865-880.
19. Pinto D, Darvishi K, Shi X, et al. Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nature Biotech. 2011;29(6):512-520.
20. Sistonen J, Sajantila A, Lao O, et al. CYP2D6 worldwide genetic variation shows high frequency of altered activity variants and no continental structure. Pharmacogenet Genomics. 2007;17(2):93-101.
21. Province MA, Goetz MP, Brauch H, et al. CYP2D6 Genotype and Adjuvant Tamoxifen: Meta-analysis of Heterogeneous Study Populations. Clin Pharmacol Ther. 2013;95(2):216-227.
22. Rae JM, Regan MM, Thibert JN, et al. Concordance Between CYP2D6 Genotypes Obtained From Tumor-Derived and Germline DNA. J Natl Cancer Inst. 2013;105(17): 1332-1334.
23. Committee THCPCAN. The human cytochrome P450 (CYP) allele nomenclature database. Available at: http://www.cypalleles. ki.se/. Accessed November 21, 2014.
24. Kelly CM, Pritchard KI. CYP2D6 genotype as a marker for benefit of adjuvant tamoxifen in postmenopausal women: lessons learned. J Natl Cancer Inst. 2012;104(6):427-428.
25. Madlensky L, Natarajan L, Tchu S, et al. Tamoxifen metabolite concentrations, CYP2D6 genotype, and breast cancer outcomes. Clin Pharmacol Ther. 2011;89(5):718-725.
26. Simon RM, Paik S, Hayes DF. Use of archived specimens in evaluation of prognostic and predictive biomarkers. J Natl Cancer Inst. 2009;101(21):1446-1452.
27. Zheng HT, Peng ZH, Zhou CZ, et al. Detailed deletion mapping of loss of heterozygosity on 22q13 in sporadic colorectal cancer. World J Gastroenterol. 2005;11(11):1668-1672.
28. Jonkers YM, Claessen SM, Feuth T, et al. Novel candidate tumour suppressor gene loci on chromosomes 11q23-24 and 22q13 involved in human insulinoma tumourigenesis. J Pathol. 2006;210(4):450-458.