Pharmacogenetic modulation of combined hormone replacement therapy by progesterone-metabolism genotypes in postmenopausal breast cancer risk

American Journal of Epidemiology

Volumn 166, Issue 12, 2007, Pages 1392-1399

  Rebbeck, T R ^a,b,e   Troxel, A B ^a,b   Norman, S ^a,b   Bunin, G ^a,b,c   DeMichele, A ^a,b   Schinnar, R ^a   Berlin, J A ^a,b,d   Strom, B L ^a,b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d JOHNSON AND JOHNSON PHARMACEUTICAL RESEARCH AND DEVELOPMENT   (United States)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Breast neoplasms; Genotype; Hormone replacement therapy; Metabolism; Pharmacogenetics; Postmenopause; Progesterone; Risk

Indexed keywords

ESTROGEN; GESTAGEN; PROGESTERONE RECEPTOR;

CANCER; DISEASE TREATMENT; GENOTYPE; HEALTH RISK; METABOLISM; SEX HORMONE; TUMOR; WOMENS HEALTH;

ADULT; AGED; ALLELE; ARTICLE; BREAST CANCER; CANCER PATIENT; CANCER RISK; CONFIDENCE INTERVAL; CONTROLLED STUDY; FEMALE; GENOTYPE; HEREDITY; HORMONE SUBSTITUTION; HUMAN; MAJOR CLINICAL STUDY; PHARMACOGENETICS; POSTMENOPAUSE; PROGESTERONE METABOLISM;

AGED; BREAST NEOPLASMS; CASE-CONTROL STUDIES; ESTROGEN REPLACEMENT THERAPY; ESTROGENS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENOTYPE; HUMANS; INCIDENCE; LOGISTIC MODELS; MIDDLE AGED; PENNSYLVANIA; PHARMACOGENETICS; POPULATION SURVEILLANCE; POSTMENOPAUSE; PROGESTERONE; RECEPTORS, ESTROGEN; RECEPTORS, PROGESTERONE; REGISTRIES; RISK FACTORS; TIME FACTORS;

EID: 36749031127     PISSN: 00029262     EISSN: 14766256     Source Type: Journal    
DOI: 10.1093/aje/kwm239     Document Type: Article

References (60)

1. Wells G, Tugwell P, Shea B, et al. Meta-analyses of therapies for postmenopausal osteoporosis. V. Meta-analysis of the efficacy of hormone replacement therapy in treating and preventing osteoporosis in postmenopausal women. Endocr Rev 2002;23:529-39.
2. Grady D, Wenger NK, Herrington D, et al. Postmenopausal hormone therapy increases risk for venous thromboembolic disease. The Heart and Estrogen/progestin Replacement Study. Ann Intern Med 2000;132:689-96.
3. Grady D, Herrington D, Bittner V, et al. Cardiovascular disease outcomes during 6.8 years of hormone therapy: Heart and Estrogen/progestin Replacement Study follow-up (HERS II). JAMA 2002;288:49-57.
4. Beral V, Banks E, Reeves G. Evidence from randomised trials on the long-term effects of hormone replacement therapy. Lancet 2002;360:942-4.
5. Hulley S, Grady D, Bush T, et al. Randomized trial of estrogen plus progestin for secondary prevention of coronary heart disease in postmenopausal women. Heart and Estrogen/progestin Replacement Study (HERS) Research Group. JAMA 1998;280:605-13.
6. Simon JA, Hsia J, Cauley JA, et al. Postmenopausal hormone therapy and risk of stroke: the Heart and Estrogen-progestin Replacement Study (HERS). Circulation 2001;103:638-42.
7. Rossouw JE, Anderson GL, Prentice RL, et al. Risks and benefits of estrogen plus progestin in healthy postmenopausal women: principal results from the Women's Health Initiative randomized controlled trial. JAMA 2002;288:321-33.
8. Effects of hormone replacement therapy on endometrial histology in postmenopausal women. The Postmenopausal Estrogen/Progestin Interventions (PEPI) Trial. The Writing Group for the PEPI Trial. JAMA 1996;275:370-5.
9. Marrett LD, Meigs JW, Flannery JT. Trends in the incidence of cancer of the corpus uteri in Connecticut, 1964-1979, in relation to consumption of exogenous estrogens. Am J Epidemiol 1982;116:57-67.
10. Lyon JL, Gardner JW. The rising frequency of hysterectomy: its effect on uterine cancer rates. Am J Epidemiol 1977;105:439-43.
11. Grady D, Gebretsadik T, Kerlikowske K, et al. Hormone replacement therapy and endometrial cancer risk: a metaanalysis. Obstet Gynecol 1995;85:304-13.
12. Paterson ME, Wade-Evans T, Sturdee DW, et al. Endometrial disease after treatment with oestrogens and progestogens in the climacteric. Br Med J 1980;280:822-4.
13. Breast cancer and hormone replacement therapy: collaborative reanalysis of data from 51 epidemiological studies of 52,705 women with breast cancer and 108,411 women without breast cancer. Collaborative Group on Hormonal Factors in Breast Cancer. Lancet 1997;350:1047-59.
14. Weiss LK, Burkman RT, Cushing-Haugen KL, et al. Hormone replacement therapy regimens and breast cancer risk. Obstet Gynecol 2002;100:1148-58.
15. Collins JA, Blake JM, Crosignani PG. Breast cancer risk with postmenopausal hormonal treatment. Hum Reprod Update 2005;11:545-60. (Erratum: Hum Reprod Update 2006;12:3310).
16. Shen Y, Li DK, Wu J, et al. Joint effects of the CYP1A1 MspI, ERα PvuII, and ERα XbaI polymorphisms on the risk of breast cancer: results from a population-based case-control study in Shanghai, China. Cancer Epidemiol Biomarkers Prev 2006;15:342-7.
17. Daling JR, Malone KE, Doody DR, et al. Relation of regimens of combined hormone replacement therapy to lobular, ductal, and other histologic types of breast carcinoma. Cancer 2002;95:2455-64.
18. Colditz GA. Estrogen, estrogen plus progestin therapy, and risk of breast cancer. Clin Cancer Res 2005;11(suppl):909s-17s.
19. Russo J, Hasan Lareef M, Balogh G, et al. Estrogen and its metabolites are carcinogenic agents in human breast epithelial cells. J Steroid Biochem Mol Biol 2003;87:1-25.
20. Liehr JG. Genotoxic effects of estrogens. Mutat Res 1990;238:269-76.
21. Le Marchand L, Donlon T, Kolonel LN, et al. Estrogen metabolism-related genes and breast cancer risk: the multiethnic cohort study. Cancer Epidemiol Biomarkers Prev 2005;14:1998-2003.
22. De Vivo I, Hankinson SE, Colditz GA, et al. A functional polymorphism in the progesterone receptor gene is associated with an increase in breast cancer risk. Cancer Res 2003;63:5236-8.
23. Feigelson HS, Rodriguez C, Jacobs EJ, et al. No association between the progesterone receptor gene +331G/A polymorphism and breast cancer. Cancer Epidemiol Biomarkers Prev 2004;13:1084-5.
24. Wang-Gohrke S, Chang-Claude J, Becher H, et al. Progesterone receptor gene polymorphism is associated with decreased risk for breast cancer by age 50. Cancer Res 2000;60:2348-50.
25. Spurdle AB, Hopper JL, Chen X, et al. The progesterone receptor exon 4 Val660Leu G/T polymorphism and risk of breast cancer in Australian women. Cancer Epidemiol Biomarkers Prev 2002;11:439-43.
26. Keshava C, McCanlies EC, Weston A. CYP3A4 polymorphisms - potential risk factors for breast and prostate cancer: a HuGE review. Am J Epidemiol 2004;160:825-41.
27. Spurdle AB, Goodwin B, Hodgson E, et al. The CYP3A4*1B polymorphism has no functional significance and is not associated with risk of breast or ovarian cancer. Pharmacogenetics 2002;12:355-66.
28. Strom B, Schinnar R, Weber AL, et al. Case-control study of postmenopausal hormone replacement therapy and endometrial cancer. Am J Epidemiol 2006;164:775-86.
29. Rebbeck TR, Troxel AB, Wang Y, et al. Estrogen sulfation genes, hormone replacement therapy, and endometrial cancer risk. J Natl Cancer Inst 2006;98:1311-20.
30. Rebbeck TR, Troxel AB, Norman S, et al. A retrospective case-control study of the use of hormone-related supplements and association with breast cancer. Int J Cancer 2007;120:1523-8.
31. Rebbeck T, Troxel A, Walker A, et al. Pairwise combinations of estrogen metabolism genotypes in post menopausal breast cancer etiology. Cancer Epidemiol Biomarkers Prev 2007;16:444-50.
32. Marchbanks PA, McDonald JA, Wilson HG, et al. The NICHD Women's Contraceptive and Reproductive Experiences Study: methods and operational results. Ann Epidemiol 2002;12:213-21.
33. Peck JD, Hulka BS, Poole C, et al. Steroid hormone levels during pregnancy and incidence of maternal breast cancer. Cancer Epidemiol Biomarkers Prev 2002;11:361-8.
34. Strom BL, Berlin JA, Weber AL, et al. Absence of an effect of injectable and implantable progestin-only contraceptives on subsequent risk of breast cancer. Contraception 2004;69:353-60.
35. Campagnoli C, Clavel-Chapelon F, Kaaks R, et al. Progestins and progesterone in hormone replacement therapy and the risk of breast cancer. J Steroid Biochem Mol Biol 2005;96:95-108.
36. Schindler AE, Campagnoli C, Druckmann R, et al. Classification and pharmacology of progestins. Maturitas 2003;46(suppl 1):S7-16.
37. de Lignieres B, de Vathaire F, Fournier S, et al. Combined hormone replacement therapy and risk of breast cancer in a French cohort study of 3175 women. Climacteric 2002;5:332-40.
38. Conneely OM, Kettelberger DM, Tsai MJ, et al. The chicken progesterone receptor A and B isoforms are products of an alternate translation initiation event. J Biol Chem 1989;264:14062-4.
39. De Vivo I, Huggins GS, Hankinson SE, et al. A functional polymorphism in the promoter of the progesterone receptor gene associated with endometrial cancer risk. Proc Natl Acad Sci U S A 2002;99:12263-8.
40. Giangrande PH, Kimbrel EA, Edwards DP, et al. The opposing transcriptional activities of the two isoforms of the human progesterone receptor are due to differential cofactor binding. Mol Cell Biol 2000;20:3102-15.
41. Mulac-Jericevic B, Mullinax RA, DeMayo FJ, et al. Subgroup of reproductive functions of progesterone mediated by progesterone receptor-B isoform. Science 2000;289:1751-4.
42. Rebbeck TR, Jaffe JM, Walker AH, et al. Modification of clinical presentation of prostate tumors by a novel genetic variant in CYP3A4. J Natl Cancer Inst 1998;90:1225-9. (Erratum: J Natl Cancer Inst 1999;91:1082).
43. Paris PL, Kupelian PA, Hall JM, et al. Association between a CYP3A4 genetic variant and clinical presentation in African-American prostate cancer patients. Cancer Epidemiol Biomarkers Prev 1999;8:901-5.
44. Felix CA, Walker AH, Lange BJ, et al. Association of CYP3A4 genotype with treatment-related leukemia. Proc Natl Acad Sci U S A 1998;95:13176-81.
45. Kadlubar FF, Berkowitz GS, Delongchamp RR, et al. The CYP3A4*1B variant is related to the onset of puberty, a known risk factor for the development of breast cancer. Cancer Epidemiol Biomarkers Prev 2003;12:327-31.
46. Lai J, Vesprini D, Chu W, et al. CYP gene polymorphisms and early menarche. Mol Genet Metab 2001;74:449-57.
47. Jernstrom H, Chu W, Vesprini D, et al. Genetic factors related to racial variation in plasma levels of insulin-like growth factor-1: implications for premenopausal breast cancer risk. Mol Genet Metab 2001;72:144-54.
48. Hashimoto H, Toide K, Kitamura R, et al. Gene structure of CYP3A4, an adult-specific form of cytochrome P450 in human livers, and its transcriptional control. Eur J Biochem 1993;218:585-95.
49. Lamba JK, Lin YS, Thummel K, et al. Common allelic variants of cytochrome P4503A4 and their prevalence in different populations. Pharmacogenetics 2002;12:121-32.
50. Westlind A, Lofberg L, Tindberg N, et al. Interindividual differences in hepatic expression of CYP3A4: relationship to genetic polymorphism in the 5′-upstream regulatory region. Biochem Biophys Res Commun 1999;259:201-5.
51. Amirimani B, Ning B, Deitz AC, et al. Increased transcriptional activity of the CYP3A4*1B promoter variant. Environ Mol Mutagen 2003;42:299-305.
52. Ando Y, Tateishi T, Sekido Y, et al. Re: Modification of clinical presentation of prostate tumors by a novel genetic variant in CYP3A4. J Natl Cancer Inst 1999;91:1587-90.
53. Floyd MD, Gervasini G, Masica AL, et al. Genotype-phenotype associations for common CYP3A4 and CYP3A5 variants in the basal and induced metabolism of midazolam in Europeanand African-American men and women. Pharmacogenetics 2003;13:595-606.
54. Hamzeiy H, Bombail V, Plant N, et al. Transcriptional regulation of cytochrome P4503A4 gene expression: effects of inherited mutations in the 5#-flanking region. Xenobiotica 2003;33:1085-95. (Erratum: Xenobiotica 2003;33:1273).
55. Zeigler-Johnson C, Friebel T, Walker AH, et al. CYP3A4, CYP3A5, and CYP3A43 genotypes and haplotypes in the etiology and severity of prostate cancer. Cancer Res 2004;64:8461-7.
56. Wacholder S, Rothman N, Caporaso N. Population stratification in epidemiologic studies of common genetic variants and cancer: quantification of bias. J Natl Cancer Inst 2000;92:1151-8.
57. Wang Y, Localio R, Rebbeck TR. Evaluating bias due to population stratification in case-control association studies of admixed populations. Genetic Epidemiol 2004;27:14-20.
58. Wang Y, Localio R, Rebbeck TR. Evaluating bias due to population stratification in epidemiologic studies of gene-gene or gene-environment interactions. Cancer Epidemiol Biomarkers Prev 2006;15:124-32.
59. Strom BL, Schinnar R. Participants and refusers in a telephone interview about hormone replacement therapy were equally likely to be taking it. J Clin Epidemiol 2004;57:624-6.
60. Wacholder S, Chanock S, Garcia-Closas M, et al. Assessing the probability that a positive report is false: an approach for molecular epidemiology studies. J Natl Cancer Inst 2004;96:434-42.