Association of estrogen receptor α polymorphisms with breast cancer risk in older Caucasian women

International Journal of Cancer

Volumn 116, Issue 6, 2005, Pages 984-991

  Modugno, Francesmary ^a,b,h   Zmuda, Joseph M ^a   Potter, Douglas ^a,b   Cai, Chao ^b   Ziv, Elad ^c   Cummings, Steven R ^d,e   Stone, Katie L ^c   Morin, Phillip A ^f   Greene, Deborah ^g   Cauley, Jane A ^a  

^a UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^b UNIVERSITY OF PITTSBURGH CANCER INSTITUTE   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d CALIFORNIA PACIFIC MEDICAL CENTER   (United States)

^e San Francisco Coordinating Center   (United States)

^f Axys Pharmaceuticals Inc   (United States)

^g ROCHE MOLECULAR SYSTEMS   (United States)

^h Public Health   (United States)

Author keywords

Breast neoplasms; Epidemiology; Estrogen receptor; Genetic polymorphisms; Prospective cohort study

Indexed keywords

ALCOHOL; ESTROGEN; ESTROGEN RECEPTOR ALPHA;

AGED; ALCOHOL CONSUMPTION; ARTICLE; BODY MASS; BONE DENSITY; BREAST CANCER; CANCER RISK; CAUCASIAN; COHORT ANALYSIS; CONFIDENCE INTERVAL; CONTROLLED STUDY; DNA POLYMORPHISM; ESR1 GENE; FEMALE; FOLLOW UP; GENE; GENE FREQUENCY; GENOTYPE; HORMONE SUBSTITUTION; HUMAN; HUMAN TISSUE; LIFESTYLE; MAJOR CLINICAL STUDY; MENARCHE; MENOPAUSE; NONBIOLOGICAL MODEL; NUCLEOTIDE SEQUENCE; PARITY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROSPECTIVE STUDY; QUESTIONNAIRE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SMOKING; UNITED STATES; WALKING;

AGED; BREAST NEOPLASMS; COHORT STUDIES; CONFIDENCE INTERVALS; ESTROGEN RECEPTOR ALPHA; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; HUMANS; LIFE STYLE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREVALENCE; PROPORTIONAL HAZARDS MODELS; RISK FACTORS;

EID: 23944454326     PISSN: 00207136     EISSN: None     Source Type: Journal    
DOI: 10.1002/ijc.21105     Document Type: Article

References (44)

1. Berrino F, Muti P, Mitcheli A, Bolelli G, Krogh V, Sciano R. Serum sex hormone levels after menopause and subsequent breast cancer. J Natl Cancer Inst 1996;88:291-6.
2. Cauley JA, Lucas F, Kuller L, Stone K, Browner W, Cummings S. Elevated serum estradiol and testosterone concentrations are associated with a high risk for breast cancer. Ann Intern Med 1999;130:270-7.
3. Hankinson SE, Willett WC, Manson JE, Colditz GA, Hunter DJ, Spiegelman D, Barbieri RL, Speizer FE. Plasma sex steroid hormone levels and risk of breast cancer in postmenopausal women. J Natl Cancer Inst 1998;90:1292-9.
4. Toniola PG, Levitz M, Zeleniush-Jacquotte A, Banerjee S, Koenig KL, Shore RE, others. A prospective study of endogenous estrogens and breast cancer risk. J Natl Cancer Inst 1995;87:190-7.
5. Enmark E, Pelto-Huikko M, Grandien K, Lagercrantz S, Lagercrantz J, Fried G, Nordenskjold M, Gustafsson JA. Human estrogen receptor beta-gene structure, chromosomal localization, and expression pattern. J Clin Endocrinol Metab 1997;82:4258-65.
6. Menasce LP, White GR, Harrison CJ, Boyle JM. Localization of the estrogen receptor locus (ESR) to chromosome 6q25.1 by FISH and a simple post-FISH banding technique. Genomics 1993;17:263-5.
7. Kahn SA, Rogers MA, Khurana KK, Meguid MM, Numann PJ. Estrogen receptor expression in benign breast epithelium and breast cancer risk. J Natl Cancer Inst 1998;90:37-42.
8. Lawson JS, Field AS, Champion S, Tran D, Ishikura H, Trichopoulos D. Low oestrogen receptor alpha expression in normal breast tissue underlies low breast cancer incidence in Japan. Lancet 1999;354:1787-8.
9. Ricketts D, Turnbull L, Ryall G, Bakhshi R, Rawson NS, Gazet JC, Nolan C, Coombes RC. Estrogen and progesterone receptors in the normal female breast. Cancer Res 1991;51:1817-22.
10. Vollenweider-Zerargui L, Barrelet L, Wong Y, Lemarchand-Beraud T, Gomez F. The predictive value of estrogen and progesterone receptors' concentrations on the clinical behavior of breast cancer in women. Clinical correlation on 547 patients. Cancer 1986;57:1171-80.
11. Castagnoli A, Maestri I, Bernardi F, Del Senno L. PvuII RFLP inside the human estrogen receptor gene. Nucleic Acids Res 1987;15:866.
12. Coleman RT, Taylor JE, Shine JJ, Frossard PM. Human estrogen receptor (ESR) gene locus: PssI dimorphism. Nucleic Acids Res 1988;16:7208.
13. Garcia T, Sanchez M, Cox JL, Shaw PA, Ross JB, Lehrer S, Schachter B. Identification of a variant form of the human estrogen receptor with an amino acid replacement. Nucleic Acids Res 1989;17:8364.
14. Zuppan PJ, Hall JM, Ponglikimongkol M, Speilman R, King MC. Polymorphisms at the estrogen receptor (ESR) locus and linkage relationships on chromosome 6q. Cytogenet Cell Genet 1989;51:1116.
15. Andersen TI, Heimdal KR, Skrede M, Tveit K, Berg K, Borresen AL. Oestrogen receptor (ESR) polymorphisms and breast cancer susceptibility. Hum Genet 1994;94:665-70.
16. Cai Q, Shu XO, Jin F, Dai Q, Wen W, Cheng JR, Gao YT, Zheng W. 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;12:853-9.
17. Parl FF, Cavener DR, Dupont WD. Genomic DNA analysis of the estrogen receptor gene in breast cancer. Breast Cancer Res Treat 1989;14:57-64.
18. Shin A, Kang D, Nishio H, Lee MJ, Park SK, Kim SU, Noh DY, Choe KJ, Ahn SH, Hirvonen A, Kim JH, Yoo KJ. Estrogen receptor alpha gene polymorphisms and breast cancer risk. Breast Cancer Res Treat 2003;80:127-31.
19. 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;52:77-83.
20. Modugno F, Weissfeld JL, Trump DL, Zmuda JM, Shea P, Cauley JA, Ferrell RE. Allelic variants of aromatase and the androgen and estrogen receptors: toward a multigenic model of prostate cancer risk. Clin Cancer Res 2001;7:3092-6.
21. Weiderpass E, Persson I, Melhus H, Wedren S, Kindmark A, Baron JA. Estrogen receptor alpha gene polymorphisms and endometrial cancer risk. Carcinogenesis 2000;21:623-7.
22. Georgiou I, Syrrou M, Bouba I, Dalkalitsis N, Paschopoulos M, Navrozoglou I, Lolis D. Association of estrogen receptor gene polymorphisms with endometriosis. Fertil Steril 1999;72:164-6.
23. Sundarrajan C, Liao W, Roy AC, Ng SC. Association of oestrogen receptor gene polymorphisms with outcome of ovarian stimulation in patients undergoing IVF. Mol Hum Reprod 1999;5:797-802.
24. Weel AE, Uitterlinden AG, Westendorp IC, Burger H, Schuit SC, Hofman A, Helmerhorst TJ, van Leeuwen JP, Pols HA. Estrogen receptor polymorphism predicts the onset of natural and surgical menopause. J Clin Endocrinol Metab 1999;84:3146-50.
25. Stavrou I, Zois C, Ioannidis JP, Tsatsoulis A. Association of polymorphisms of the oestrogen receptor alpha gene with the age of menarche. Hum Reprod 2002;17:1101-05.
26. Cauley JA, Lucas FL, Kuller LH, Vogt MT, Browner WS, Cummings SR. Bone mineral density and risk of breast cancer in older women: the study osteoporotic fractures. JAMA 1996;276:1404-8.
27. Gennari L, Becherini L, Masi L, Mansani R, Gonnelli S, Cepollaro C, Martini S, Montagnani A, Lentini G, Becorpi AM, Brandi ML. Vitamin D and estrogen receptor allelic variants in Italian postmenopausal women: evidence of multiple gene contribution to bone mineral density. J Clin Endocrinol Metab 1998;83:939-44.
28. Willing M, Sowers M, Aron D, Clark MK, Burns T, Bunten C, Crutchfield M, D'Agostino D, Jannausch M. Bone mineral density and its change in white women: estrogen and vitamin D receptor genotypes and their interaction. J Bone Miner Res 1998;13:695-705.
29. Becherini L, Gennari L, Masi L, Mansani R, Massart F, Morelli A, Falchetti A, Gonnelli S, Fiorelli G, Tanini A, Brandi ML. Evidence of a linkage disequilibrium between polymorphisms in the human estrogen receptor alpha gene and their relationship to bone mass variation in postmenopausal Italian women. Hum Mol Genet 2000;9:2043-50.
30. Cummings SR, Black DM, Nevitt MC, Browner WS, Cauley JA, Genant HK, Mascioli SR, Scott JC, Seeley DG, Steiger P. Appendicular bone density and age predict hip fracture in women. The Study of Osteoporotic Fractures Research Group. JAMA 1990;263:665-8.
31. Kobayashi S, Inoue S, Hosoi T, Ouchi Y, Shiraki M, Orimo H. Association of bone mineral density with polymorphism of the estrogen receptor gene. J Bone Min Res 1996;11:306-11.
32. Han KO, Moon IG, Kang YS, Chung HY, Min HK, Han IK. Nonassociation of estrogen receptor genotypes with bone mineral density and estrogen responsiveness 10 hormone replacement therapy in Korean postmenopausal women. J Clin Endocrinol Metab 1997;82:991-5.
33. Morin PA, Saiz R, Monjazeb A. High-throughput single nucleotide polymorphism genotyping by fluorescent 5′ exonuclease assay. Biotechniques 1999;27:538-40.
34. Yaffe K, Lui LY, Grady D, Stone K, Morin P. Estrogen receptor 1 polymorphisms and risk of cognitive impairment in older women. Biol Psychiatry 2002;51:677-82.
35. Cheng S, Grow MA, Pallaud C, Klitz W, Erlich HA, Visvikis S, Chen JJ, Pullinger CR, Malloy MJ, Siest G, Kane JP. A multilocus genotyping assay for candidate markers of cardiovascular disease risk. Genome Res 1999;9:936-49.
36. Friedenreich CM. Physical activity and cancer prevention: from observational to intervention research. Cancer Epidemiol Biomarkers Prev 2001;10:287-301.
37. Terry PD, Rohan TE. Cigarette smoking and the risk of breast cancer in women: a review of the literature. Cancer Epidemiol Biomarkers Prev 2002;11:t-71.
38. Baron JA, La Vecchia C, Levi F. The antiestrogenic effect of cigarette smoking in women. Am J Obstet Gynecol 1990;162:502-14.
39. McTiernan A, Ulrich C, Slate S, Potter J. Physical activity and cancer etiology: associations and mechanisms. Cancer Causes Control 1998;9:487-509.
40. Herrington DM, Howard TD, Hawkins GA, Reboussin DM, Xu J, Zheng SL, Brosnihan KB, Meyers DA, Bleecker ER. Estrogen-receptor polymorphisms and effects of estrogen replacement on high-density lipoprotein cholesterol in women with coronary disease. N Engl J Med 2002;346:967-74.
41. Herrington DM, Howard TD, Brosnihan KB, McDonnell DP, Li X, Hawkins GA, Reboussin DM, Xu J, Zheng SL, Meyers DA, Bleecker ER. Common estrogen receptor polymorphism augments effects of hormone replacement therapy on E-selectin but not C-reactive protein. Circulation 2002;105:1879-82.
42. Jeng MH, Shupnik MA, Bender TP, Westin EH, Bandyopadhyay D, Kumar R, Masamura S, Santen RJ. Estrogen receptor expression and function in long-term estrogen-deprived human breast cancer cells. Endocrinology 1998;139:4164-74.
43. Committee. TWsHIS. Effects of conjugated equine estrogen in postmenopausal women with hysterectomy: the Women's Health Initiative Randomized Controlled Trial. JAMA 2004;291:1701-12.
44. Clavel-Chapelon F, Gerber M. Reproductive factors and breast cancer risk. Do they differ according to age at diagnosis? Breast Cancer Res Treat 2002;72:107-15.