Genetic polymorphisms of ESR1, ESR2, CYP17A1, and CYP19A1 and the risk of breast cancer: A case control study from North India

Tumor Biology

Volumn 35, Issue 5, 2014, Pages 4517-4527

  Chattopadhyay, Shilpi ^a   Siddiqui, Sarah ^a   Akhtar, Md Salman ^a   Najm, Mohammad Zeeshan ^a   Deo, S V S ^b   Shukla, N K ^b   Husain, Syed Akhtar ^a  

^a JAMIA MILLIA ISLAMIA CENTRAL UNIVERSITY   (India)

^b ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Aromatase; Breast cancer; Estrogen receptor; Molecular epidemiology; Polymorphism

Indexed keywords

AROMATASE; CYP17A1; CYTOCHROME P450; EPIDERMAL GROWTH FACTOR RECEPTOR 2; ESTROGEN RECEPTOR ALPHA; ESTROGEN RECEPTOR BETA; PROGESTERONE RECEPTOR; UNCLASSIFIED DRUG; CYP17A1 PROTEIN, HUMAN; CYP19A1 PROTEIN, HUMAN; ESTROGEN RECEPTOR ALPHA, HUMAN; STEROID 17ALPHA MONOOXYGENASE;

ADULT; ADVANCED CANCER; ARTICLE; BREAST CANCER; CANCER GENETICS; CANCER RISK; CASE CONTROL STUDY; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; INDIA; MAJOR CLINICAL STUDY; MALE; MALE BREAST CANCER; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; AGED; BREAST TUMOR; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; RISK;

ADULT; AGED; AROMATASE; BREAST NEOPLASMS; CASE-CONTROL STUDIES; ESTROGEN RECEPTOR ALPHA; ESTROGEN RECEPTOR BETA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INDIA; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK; STEROID 17-ALPHA-HYDROXYLASE;

EID: 84902987903     PISSN: 10104283     EISSN: 14230380     Source Type: Journal    
DOI: 10.1007/s13277-013-1594-1     Document Type: Article

References (61)

1. Jemal A, Bray F, Center MM, Ferlay J, Ward E, Forman D. Global cancer statistics. CA: Cancer J Clin. 2011;61(2):69-90. doi:10.3322/caac.20107.
2. Breast cancer in developing countries. Lancet. 2009;374(9701):1567. doi: 10.1016/S0140-6736(09)61930-9.
3. Leong SP, Shen ZZ, Liu TJ, Agarwal G, Tajima T, Paik NS, et al. Is breast cancer the same disease in Asian and Western countries? World J Surg. 2010;34(10):2308-24. doi:10.1007/s00268-010-0683-1.
4. Takiar R, Srivastav A. Time trend in breast and cervix cancer of women in India - (1990-2003). Asian Pac J Cancer Prev. 2008;9(4):777-80.
5. Yeole BB. Trends in cancer incidence in female breast, cervix uteri, corpus uteri, and ovary in India. Asian Pac J Cancer Prev. 2008;9(1):119-22.
6. Nandakumar A, Ramnath T, ChaturvediM. The magnitude of cancer breast in India: a summary. Indian J Surg Oncol. 2010;1(1):8-9. doi:10.1007/s13193-010- 0004-z.
7. Hankinson SE, Colditz GA, Willett WC. Towards an integrated model for breast cancer etiology: the lifelong interplay of genes, lifestyle, and hormones. Breast Cancer Res. 2004;6(5):213-8. doi:10.1186/bcr921 bcr921.
8. Key TJ, Verkasalo PK, Banks E. Epidemiology of breast cancer. Lancet Oncol. 2001;2(3):133-40. doi:10.1016/S1470-2045(00)00254-0. (Pubitemid 33585924)
9. Lamote I, Meyer E, Massart-Leen AM, Burvenich C. Sex steroids and growth factors in the regulation of mammary gland proliferation, differentiation, and involution. Steroids. 2004;69(3):145-59. doi:10.1016/j.steroids.2003.12.008. (Pubitemid 38479388)
10. Pelekanou V, Leclercq G. Recent insights into the effect of natural and environmental estrogens on mammary development and carcinogenesis. Int J Dev Biol. 2011;55(7-9):869-78. doi:10.1387/ijdb.113369vp.
11. Yager JD, Davidson NE. Estrogen carcinogenesis in breast cancer. N Engl J Med. 2006;354(3):270-82. doi:10.1056/NEJMra050776.
12. Paruthiyil S, Parmar H, Kerekatte V, Cunha GR, Firestone GL, Leitman DC. Estrogen receptor beta inhibits human breast cancer cell proliferation and tumor formation by causing a G2 cell cycle arrest. Cancer Res. 2004;64(1):423-8. (Pubitemid 38114127)
13. Strom A, Hartman J, Foster JS, Kietz S, Wimalasena J, Gustafsson JA. Estrogen receptor beta inhibits 17beta-estradiol-stimulated proliferation of the breast cancer cell line T47D. Proc Natl Acad Sci U S A. 2004;101(6):1566-71. doi:10.1073/pnas.03083191000308319100. (Pubitemid 38236167)
14. Brentano ST, Picado-Leonard J, Mellon SH, Moore CC, Miller WL. Tissue-specific, cyclic adenosine 3',5'- monophosphate-induced, and phorbol ester-repressed transcription from the human P450c17 promoter in mouse cells. Mol Endocrinol. 1990;4(12):1972-9.
15. Simpson ER, Mahendroo MS, Means GD, Kilgore MW, Hinshelwood MM, Graham-Lorence S, et al. Aromatase cytochrome P450, the enzyme responsible for estrogen biosynthesis. Endocr Rev. 1994;15(3):342-55. (Pubitemid 24180792)
16. Simpson ER. Sources of estrogen and their importance. J Steroid Biochem Mol Biol. 2003;86(3-5):225-30. (Pubitemid 37412561)
17. Yue W, Wang JP, Hamilton CJ, Demers LM, Santen RJ. In situ aromatization enhances breast tumor estradiol levels and cellular proliferation. Cancer Res. 1998;58(5):927-32. (Pubitemid 28182460)
18. Utsumi T, Harada N, Maruta M, Takagi Y. Presence of alternatively spliced transcripts of aromatase gene in human breast cancer. J Clin Endocrinol Metab. 1996;81(6):2344-9. (Pubitemid 26175966)
19. Jordan VC, Brodie AM. Development and evolution of therapies targeted to the estrogen receptor for the treatment and prevention of breast cancer. Steroids. 2007;72(1):7-25. doi:10.1016/j.steroids.2006.10.009. (Pubitemid 46037765)
20. Chen YC, Hunter DJ.Molecular epidemiology of cancer. CA Cancer J Clin. 2005;55(1):45-54. quiz 7.
21. Cai Q, Shu XO, Jin F, Dai Q, Wen W, Cheng JR, et al. Genetic polymorphisms in the estrogen receptor alpha gene and risk of breast cancer: results from the Shanghai Breast Cancer Study. Cancer Epidemiol Biomarkers Prev. 2003;12(9):853-9. (Pubitemid 37151519)
22. Shen Y, Li DK, Wu J, Zhang Z, Gao E. Joint effects of the CYP1A1 MspI, ERalpha PvuII, and ERalpha 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(2):342-7. doi:10.1158/1055-9965.EPI-05-0485. (Pubitemid 43342185)
23. Surekha D, Vishnupriya S, Rao DN, Sailaja K, Raghunadharao D. PvuII polymorphism of estrogen receptor-alpha gene in breast cancer. Indian J Hum Genet. 2007;13(3):97-101. doi:10.4103/0971-6866.38983. (Pubitemid 351252642)
24. Li N, Dong J, Hu Z, Shen H, Dai M. Potentially functional polymorphisms in ESR1 and breast cancer risk: a meta-analysis. Breast Cancer Res Treat. 2010;121(1):177-84. doi:10.1007/s10549-009-0532-9.
25. Zhang B, Beeghly-Fadiel A, Lu W, Cai Q, Xiang YB, Zheng Y, et al. Evaluation of functional genetic variants for breast cancer risk: results from the Shanghai breast cancer study. Am J Epidemiol. 2011;173(10):1159-70. doi:10.1093/aje/kwr004.
26. Boyapati SM, Shu XO, Ruan ZX, Cai Q, Smith JR, Wen W, et al. Polymorphisms in ER-alpha gene interact with estrogen receptor status in breast cancer survival. Clin Cancer Res. 2005;11(3):1093-8. (Pubitemid 40175758)
27. Wang J, Higuchi R, Modugno F, Li J, Umblas N, Lee J, et al. Estrogen receptor alpha haplotypes and breast cancer risk in older Caucasian women. Breast Cancer Res Treat. 2007;106(2):273-80. doi:10.1007/s10549-007-9497-8. (Pubitemid 350045020)
28. Gonzalez-Zuloeta Ladd AM, Vasquez AA, Rivadeneira F, Siemes C, Hofman A, Stricker BH, et al. Estrogen receptor alpha polymorphisms and postmenopausal breast cancer risk. Breast Cancer Res Treat. 2008;107(3):415-9. doi:10.1007/s10549-007-9562-3. (Pubitemid 351172114)
29. Sakoda LC, Blackston CR, Doherty JA, Ray RM, LinMG, Gao DL, et al. Selected estrogen receptor 1 and androgen receptor gene polymorphisms in relation to risk of breast cancer and fibrocystic breast conditions among Chinese women. Cancer Epidemiol. 2011;35(1):48-55. doi:10.1016/j.canep.2010.08. 005.
30. Treeck O, Elemenler E, Kriener C, Horn F, Springwald A, Hartmann A, et al. Polymorphisms in the promoter region of ESR2 gene and breast cancer susceptibility. J Steroid Biochem Mol Biol. 2009;114(3-5):207-11. doi:10.1016/j.jsbmb.2009.02.012.
31. Bergman-Jungestrom M, Gentile M, Lundin AC, Wingren S. Association between CYP17 gene polymorphism and risk of breast cancer in young women. Int J Cancer. 1999;84(4):350-3. doi:10. 1002/(SICI)1097-0215(19990820)84:4<350:: AID-IJC3>3.0.CO;2-L.
32. Feigelson HS, Coetzee GA, Kolonel LN, Ross RK, Henderson BE. A polymorphism in the CYP17 gene increases the risk of breast cancer. Cancer Res. 1997;57(6):1063-5. (Pubitemid 27138602)
33. Feigelson HS, McKean-Cowdin R, Coetzee GA, Stram DO, Kolonel LN, Henderson BE. Building a multigenic model of breast cancer susceptibility: CYP17 and HSD17B1 are two important candidates. Cancer Res. 2001;61(2):785-9. (Pubitemid 32128647)
34. Chen Y, Gammon MD, Teitelbaum SL, Britton JA, Terry MB, Shantakumar S, et al. Estrogen-biosynthesis gene CYP17 and its interactions with reproductive, hormonal and lifestyle factors in breast cancer risk: results from the Long Island Breast Cancer Study Project. Carcinogenesis. 2008;29(4):766-71. doi:10.1093/carcin/bgn042. (Pubitemid 351494164)
35. Chakraborty A, Murthy NS, Chintamani C, Bhatnagar D, Mohil RS, Sharma PC, et al. CYP17 gene polymorphism and its association with high-risk north Indian breast cancer patients. J Hum Genet. 2007;52(2):159-65. doi:10.1007/s10038-006- 0095-0. (Pubitemid 46185110)
36. Helzlsouer KJ, Huang HY, Strickland PT, Hoffman S, Alberg AJ, Comstock GW, et al. Association between CYP17 polymorphisms and the development of breast cancer. Cancer Epidemiol Biomarkers Prev. 1998;7(10):945-9. (Pubitemid 28471584)
37. Dunning AM, Healey CS, Pharoah PD, Foster NA, Lipscombe JM, Redman KL, et al. No association between a polymorphism in the steroid metabolism gene CYP17 and risk of breast cancer. Br J Cancer. 1998;77(11):2045-7. (Pubitemid 28254655)
38. Nedelcheva Kristensen V,Haraldsen EK, Anderson KB, Lonning PE, Erikstein B, Karesen R, et al. CYP17 and breast cancer risk: the polymorphism in the 5? flanking area of the gene does not influence binding to Sp-1. Cancer Res. 1999;59(12):2825-8. (Pubitemid 29283117)
39. Mitrunen K, Jourenkova N, Kataja V, Eskelinen M, Kosma VM, Benhamou S, et al. Steroid metabolism gene CYP17 polymorphism and the development of breast cancer. Cancer Epidemiol Biomarkers Prev. 2000;9(12):1343-8. (Pubitemid 32044803)
40. Setiawan VW, Schumacher FR, Haiman CA, Stram DO, Albanes D, Altshuler D, et al. CYP17 genetic variation and risk of breast and prostate cancer from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3). Cancer Epidemiol Biomarkers Prev. 2007;16(11):2237-46. doi:10.1158/1055-9965. EPI-07-0589. (Pubitemid 351196355)
41. Miyoshi Y, Iwao K, Ikeda N, Egawa C, Noguchi S. Breast cancer risk associated with polymorphism in CYP19 in Japanese women. Int J Cancer. 2000;89(4):325-8. doi:10.1002/1097-0215(20000720) 89:4<325::AID-IJC2>3.0. CO;2-3.
42. Lee KM, Abel J, Ko Y, Harth V, Park WY, Seo JS, et al. Genetic polymorphisms of cytochrome P450 19 and 1B1, alcohol use, and breast cancer risk in Korean women. Br J Cancer. 2003;88(5):675-8. doi:10.1038/sj.bjc.6600761. (Pubitemid 36411442)
43. Long JR, Kataoka N, Shu XO,WenW, Gao YT, Cai Q, et al. Genetic polymorphisms of the CYP19A1 gene and breast cancer survival. Cancer Epidemiol Biomarkers Prev. 2006;15(11):2115-22. doi:10.1158/1055-9965.EPI-06-0464. (Pubitemid 44877034)
44. Cai Q, Kataoka N, Li C,WenW, Smith JR, Gao YT, et al. Haplotype analyses of CYP19A1 gene variants and breast cancer risk: results from the Shanghai Breast Cancer Study. Cancer Epidemiol Biomarkers Prev. 2008;17(1):27-32. doi:10.1158/1055-9965.EPI-07-0688. (Pubitemid 351196270)
45. Fasching PA, Loehberg CR, Strissel PL, Lux MP, Bani MR, Schrauder M, et al. Single nucleotide polymorphisms of the aromatase gene (CYP19A1), HER2/neu status, and prognosis in breast cancer patients. Breast Cancer Res Treat. 2008;112(1):89-98. doi:10.1007/s10549-007-9822-2.
46. Taylor JG, Choi EH, Foster CB, Chanock SJ. Using genetic variation to study human disease. Trends Mol Med. 2001;7(11):507-12. (Pubitemid 33021680)
47. Ye S, Dhillon S, Ke X, Collins AR, Day IN. An efficient procedure for genotyping single nucleotide polymorphisms. Nucleic Acids Res. 2001;29(17):E88-8.
48. Yaich L, Dupont WD, Cavener DR, Parl FF. Analysis of the PvuII restriction fragment-length polymorphism and exon structure of the estrogen receptor gene in breast cancer and peripheral blood. Cancer Res. 1992;52(1):77-83.
49. Andersen TI, Heimdal KR, Skrede M, Tveit K, Berg K, Borresen AL. Oestrogen receptor (ESR) polymorphisms and breast cancer susceptibility. Hum Genet. 1994;94(6):665-70. (Pubitemid 24351525)
50. Herrington DM, Howard TD, Brosnihan KB, McDonnell DP, Li X, Hawkins GA, et al. Common estrogen receptor polymorphism augments effects of hormone replacement therapy on E-selectin but not C-reactive protein. Circulation. 2002;105(16):1879-82. (Pubitemid 34437611)
51. Schuit SC, de Jong FH, Stolk L, Koek WN, van Meurs JB, Schoofs MW, et al. Estrogen receptor alpha gene polymorphisms are associated with estradiol levels in postmenopausal women. Eur J Endocrinol. 2005;153(2):327-34. doi:10.1530/eje.1.01973. (Pubitemid 41167491)
52. Gonzalez-Mancha R, Galan JJ, Crespo C, Iglesias Perez L, Gonzalez-Perez A, Moron FJ, et al. Analysis of the ERalpha germline PvuII marker in breast cancer risk. Med Sci Monit. 2008;14(3):CR136-43. (Pubitemid 351457410)
53. Li LC, Yeh CC, Nojima D, Dahiya R. Cloning and characterization of human estrogen receptor beta promoter. Biochem Biophys Res Commun. 2000;275(2):682-9. doi:10.1006/bbrc.2000.3363 S0006-291X(00)93363-1.
54. Thellenberg-Karlsson C, Lindstrom S, Malmer B, Wiklund F, Augustsson-Balter K, Adami HO, et al. Estrogen receptor beta polymorphism is associated with prostate cancer risk. Clin Cancer Res. 2006;12(6):1936-41. doi:10.1158/1078-0432.CCR-05-0269.
55. Passarelli MN, Phipps AI, Potter JD, Makar KW, Coghill AE, Wernli KJ, et al. Common single-nucleotide polymorphisms in the estrogen receptor beta promoter are associated with colorectal cancer survival in postmenopausal women. Cancer Res. 2013;73(2):767-75. doi:10.1158/0008-5472.CAN-12-2484.
56. Feigelson HS, Shames LS, Pike MC, Coetzee GA, Stanczyk FZ, Henderson BE. Cytochrome P450c17alpha gene (CYP17) polymorphism is associated with serum estrogen and progesterone concentrations. Cancer Res. 1998;58(4):585-7. (Pubitemid 28099459)
57. Haiman CA, Hankinson SE, Spiegelman D, Colditz GA, Willett WC, Speizer FE, et al. The relationship between a polymorphism in CYP17 with plasma hormone levels and breast cancer. Cancer Res. 1999;59(5):1015-20. (Pubitemid 29135960)
58. Miyoshi Y, Ando A, Ooka M, Shiba E, Taguchi T, Tamaki Y, et al. Association of CYP17 genetic polymorphism with intra-tumoral estradiol concentrations but not with CYP17 messenger RNA levels in breast cancer tissue. Cancer Lett. 2003;195(1):81-6. (Pubitemid 36588982)
59. Wang H, Li Q, Wang T, Yang G, Wang Y, Zhang X, et al. A common polymorphism in the human aromatase gene alters the risk for polycystic ovary syndrome and modifies aromatase activity in vitro. Mol Hum Reprod. 2011;17(6):386-91. doi:10.1093/molehr/gar007.
60. Haiman CA, Stram DO, Pike MC, Kolonel LN, Burtt NP, Altshuler D, et al. A comprehensive haplotype analysis of CYP19 and breast cancer risk: the Multiethnic Cohort. Hum Mol Genet. 2003;12(20):2679-92. doi:10.1093/hmg/ ddg294ddg294. (Pubitemid 37304690)
61. Brodie A. Aromatase inhibitors in breast cancer. Trends Endocrinol Metab. 2002;13(2):61-5. (Pubitemid 36740448)