Oestrogen receptor α gene haplotype and postmenopausal breast cancer risk: a case control study

Breast Cancer Research

Volumn 6, Issue 4, 2004, Pages

  Wedrén, Sara ^a   Lovmar, Lovisa ^b   Humphreys, Keith ^a   Magnusson, Cecilia ^a   Melhus, Håkan ^b   Syvänen, Ann Christine ^b   Kindmark, Andreas ^b   Landegren, Ulf ^b   Fermér, Maria Lagerström ^b   Stiger, Fredrik ^b   Persson, Ingemar ^a,c   Baron, John ^d   Weiderpass, Elisabete ^a,e  

^a KAROLINSKA INSTITUTE   (Sweden)

^b UPPSALA UNIVERSITY   (Sweden)

^c MEDICAL PRODUCTS AGENCY   (Sweden)

^d DARTMOUTH MEDICAL SCHOOL   (United States)

^e INTERNATIONAL AGENCY FOR RESEARCH ON CANCER   (France)

Author keywords

breast cancer; gene; haplotype; oestrogen receptor ; polymorphism

Indexed keywords

ESTROGEN RECEPTOR; ESTROGEN RECEPTOR ALPHA;

AGED; ARTICLE; BREAST TUMOR; CASE CONTROL STUDY; FEMALE; GENETIC MARKER; GENETIC POLYMORPHISM; GENETICS; HAPLOTYPE; HUMAN; MIDDLE AGED; RISK; SINGLE NUCLEOTIDE POLYMORPHISM;

AGED; BREAST NEOPLASMS; CASE-CONTROL STUDIES; ESTROGEN RECEPTOR ALPHA; FEMALE; GENETIC MARKERS; HAPLOTYPES; HUMANS; MIDDLE AGED; ODDS RATIO; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, ESTROGEN;

EID: 7044220607     PISSN: 14655411     EISSN: 1465542X     Source Type: Journal    
DOI: 10.1186/bcr811     Document Type: Article

References (57)

1. P. Zuppan J.M. Hall M.K. Lee M. Ponglikitmongkol M.C. King Possible linkage of the estrogen receptor gene to breast cancer in a family with late-onset disease Am J Hum Genet 1991 48 1065 1068 1:STN:280:DyaK3M3ktFWhsg%3D%3D 2035527 1683085
2. P.A. Newcomb A. Trentham-Dietz K.M. Egan L. Titus-Ernstoff J.A. Baron B.E. Storer W.C. Willett M.J. Stampfer Fracture history and risk of breast and endometrial cancer Am J Epidemiol 2001 153 1071 1078 1:STN:280:DC%2BD3MzislCrtA%3D%3D 10.1093/aje/153.11.1071 11390325
3. Y. Yamada F. Ando N. Niino S. Ohta H. Shimokata Association of polymorphisms of the estrogen receptor alpha gene with bone mineral density of the femoral neck in elderly Japanese women J Mol Med 2002 80 452 460 1:CAS:528:DC%2BD38XmvVSqt7o%3D 10.1007/s00109-002-0348-0 12110951
4. Y.J. Qin H. Shen Q.R. Huang L.J. Zhao Q. Zhou M.X. Li J.W. He X.Y. Mo J.H. Lu R.R. Recker H.W. Deng Estrogen receptor alpha gene polymorphisms and peak bone density in Chinese nuclear families J Bone Miner Res 2003 18 1028 1035 1:CAS:528:DC%2BD3sXkslOhsb8%3D 10.1359/jbmr.2003.18.6.1028 12817755
5. J.P. Ioannidis I. Stavrou T.A. Trikalinos C. Zois M.L. Brandi L. Gennari O. Albagha S.H. Ralston A. Tsatsoulis Association of polymorphisms of the estrogen receptor alpha gene with bone mineral density and fracture risk in women: a meta-analysis J Bone Miner Res 2002 17 2048 2060 1:CAS:528:DC%2BD38Xoslems7Y%3D 10.1359/jbmr.2002.17.11.2048 12412813
6. C. Magnusson J.A. Baron N. Correia R. Bergstrom H.O. Adami I. Persson Breast-cancer risk following long-term oestrogen- and oestrogen-progestin-replacement therapy Int J Cancer 1999 81 339 344 1:STN:280:DyaK1M3isVKmsA%3D%3D 10.1002/(SICI)1097-0215(19990505)81:3<339::AID-IJC5>3.0.CO;2-6 10209946
7. C. Magnusson J. Baron I. Persson A. Wolk R. Bergstrom D. Trichopoulos H.O. Adami Body size in different periods of life and breast cancer risk in post-menopausal women Int J Cancer 1998 76 29 34 1:STN:280:DyaK1c7pt1CnsA%3D%3D 10.1002/(SICI)1097-0215(19980330)76:1<29::AID-IJC6>3.0.CO;2-# 9533758
8. C.M. Magnusson I.R. Persson J.A. Baron A. Ekbom R. Bergstrom H.O. Adami The role of reproductive factors and use of oral contraceptives in the aetiology of breast cancer in women aged 50 to 74 years Int J Cancer 1999 80 231 236 1:CAS:528:DyaK1MXhtlajtg%3D%3D 10.1002/(SICI)1097-0215(19990118)80:2<231::AID-IJC11>3.0.CO;2-R 9935204
9. J. Isola S. DeVries L. Chu S. Ghazvini F. Waldman Analysis of changes in DNA sequence copy number by comparative genomic hybridization in archival paraffin-embedded tumor samples Am J Pathol 1994 145 1301 1308 1:CAS:528:DyaK2MXjtV2mtLs%3D 7992835 1887491
10. W.L. McGuire G.C. Chamness S.A. Fuqua Abnormal estrogen receptor in clinical breast cancer J Steroid Biochem Mol Biol 1992 43 243 247 1:STN:280:DyaK38zpvFejtA%3D%3D 10.1016/0960-0760(92)90214-4 1525064
11. N. Roodi L.R. Bailey W.Y. Kao C.S. Verrier C.J. Yee W.D. Dupont F.F. Parl Estrogen receptor gene analysis in estrogen receptor-positive and receptor-negative primary breast cancer J Natl Cancer Inst 1995 87 446 451 1:CAS:528:DyaK2MXkvVGntL4%3D 10.1093/jnci/87.6.446 7861463
12. M. Sano S. Inoue T. Hosoi Y. Ouchi M. Emi M. Shiraki H. Orimo Association of estrogen receptor dinucleotide repeat polymorphism with osteoporosis Biochem Biophys Res Commun 1995 217 378 383 1:CAS:528:DyaK2MXpvVWhsb8%3D 10.1006/bbrc.1995.2787 8526937
13. L. Yaich W.D. Dupont D.R. Cavener F.F. Parl 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 1:CAS:528:DyaK38Xls1Cqug%3D%3D 1345763
14. X. Chen L. Levine P.Y. Kwok Fluorescence polarization in homogeneous nucleic acid analysis Genome Res 1999 9 492 498 1:CAS:528:DyaK1MXjsFegt7k%3D 10330129 310763
15. S. Tyagi D.P. Bratu F.R. Kramer Multicolor molecular beacons for allele discrimination Nat Biotechnol 1998 16 49 53 1:CAS:528:DyaK1cXjsVyqtQ%3D%3D 10.1038/nbt0198-49 9447593
16. I. Tapp L. Malmberg E. Rennel M. Wik A.C. Syvanen Homogeneous scoring of single-nucleotide polymorphisms: comparison of the 5'-nuclease TaqMan assay and Molecular Beacon probes Biotechniques 2000 28 732 738 1:CAS:528:DC%2BD3cXis1Wmu7o%3D 10769752
17. M. Zuker Mfold web server for nucleic acid folding and hybridization prediction Nucleic Acids Res 2003 31 3406 3415 1:CAS:528:DC%2BD3sXltVWisr8%3D 10.1093/nar/gkg595 12824337 169194
18. A.C. Syvanen A. Sajantila M. Lukka Identification of individuals by analysis of biallelic DNA markers, using PCR and solid-phase minisequencing Am J Hum Genet 1993 52 46 59 1:CAS:528:DyaK3sXitVOjt7w%3D 8434605 1682118
19. S. Holgersson J.A. Karlsson A. Kihlgren B. Rosen P. Savolainen U. Gyllensten Fluorescent-based typing of the two short tandem repeat loci HUMTH01 and HUMACTBP2: reproducibility of size measurements and genetic variation in the Swedish population Electrophoresis 1994 15 890 895 1:CAS:528:DyaK2cXlslWmtLg%3D 10.1002/elps.11501501127 7813393
20. R.C. Lewontin M.W. Feldman A general asymptotic property of two-locus selection models Theor Popul Biol 1988 34 177 193 1:STN:280:DyaL1M7mt1aqug%3D%3D 10.1016/0040-5809(88)90041-X 3232120
21. J.D. Wall J.K. Pritchard Haplotype blocks and linkage disequilibrium in the human genome Nat Rev Genet 2003 4 587 597 1:CAS:528:DC%2BD3sXlvFaqtrc%3D 10.1038/nrg1123 12897771
22. B. Devlin N. Risch A comparison of linkage disequilibrium measures for fine-scale mapping Genomics 1995 29 311 322 1:CAS:528:DyaK2MXovVSls7s%3D 10.1006/geno.1995.9003 8666377
23. P.W. Hedrick Gametic disequilibrium measures: proceed with caution Genetics 1987 117 331 341 1:STN:280:DyaL1c%2FjtVKmtA%3D%3D 3666445 1203208
24. N.E. Breslow N.E. Day Statistical methods in cancer research. Volume I – The analysis of case-control studies Lyon, France: International Agency for Research on Cancer 1987
25. J.H. Zhao D. Curtis P.C. Sham Model-free analysis and permutation tests for allelic associations Hum Hered 2000 50 133 139 1:CAS:528:DC%2BD3cXhtVaiuw%3D%3D 10.1159/000022901 10799972
26. D.O. Stram C. Leigh Pearce P. Bretsky M. Freedman J.N. Hirschhorn D. Altshuler L.N. Kolonel B.E. Henderson D.C. Thomas Modeling and E-M estimation of haplotype-specific relative risks from genotype data for a case-control study of unrelated individuals Hum Hered 2003 55 179 190 10.1159/000073202 14566096
27. J. Neuhaus Closure of the class of binary generalized linear models in some non-standard settings J R Statist Soc B 2000 62 839 846 10.1111/1467-9868.00268
28. P. Westfall S. Young Resampling-based Multiple Testing: Examples and Methods for P-value Adjustment 1993 New York John Wiley & Sons
29. D.M. Herrington T.D. Howard G.A. Hawkins D.M. Reboussin J. Xu S.L. Zheng K.B. Brosnihan D.A. Meyers E.R. Bleecker Estrogen-receptor polymorphisms and effects of estrogen replacement on high-density lipoprotein cholesterol in women with coronary disease N Engl J Med 2002 346 967 974 1:CAS:528:DC%2BD38XitlCitrg%3D 10.1056/NEJMoa012952 11919305
30. J.E. Curran R.A. Lea S. Rutherford S.R. Weinstein L.R. Griffiths Association of estrogen receptor and glucocorticoid receptor gene polymorphisms with sporadic breast cancer Int J Cancer 2001 95 271 275 1:CAS:528:DC%2BD3MXlt1yqs74%3D 10.1002/1097-0215(20010720)95:4<271::AID-IJC1046>3.0.CO;2-D 11400122
31. M.R. Hoehe Haplotypes and the systematic analysis of genetic variation in genes and genomes Pharmacogenomics 2003 4 547 570 1:CAS:528:DC%2BD3sXmslSiu7k%3D 10.2217/14622416.4.5.547 12943464
32. C.M. Drysdale D.W. McGraw C.B. Stack J.C. Stephens R.S. Judson K. Nandabalan K. Arnold G. Ruano S.B. Liggett Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness Proc Natl Acad Sci USA 2000 97 10483 10488 1:CAS:528:DC%2BD3cXms1Crsbc%3D 10.1073/pnas.97.19.10483 10984540 27050
33. D. Fallin N.J. Schork Accuracy of haplotype frequency estimation for biallelic loci, via the expectation-maximization algorithm for unphased diploid genotype data Am J Hum Genet 2000 67 947 959 1:CAS:528:DC%2BD3cXnsVCgsL0%3D 10.1086/303069 10954684 1287896
34. N.S. Enattah T. Sahi E. Savilahti J.D. Terwilliger L. Peltonen I. Jarvela Identification of a variant associated with adult-type hypolactasia Nat Genet 2002 30 233 237 1:CAS:528:DC%2BD38XhtFWltbw%3D 10.1038/ng826 11788828
35. D.M. Herrington T.D. Howard K.B. Brosnihan D.P. McDonnell X. Li G.A. Hawkins D.M. Reboussin J. Xu S.L. Zheng D.A. Meyers E.R. Bleeker Common estrogen receptor polymorphism augments effects of hormone replacement therapy on E-selectin but not C-reactive protein Circulation 2002 105 1879 1882 1:CAS:528:DC%2BD38XktFajtbg%3D 10.1161/01.CIR.0000016173.98826.88 11997270
36. J. Majewski J. Ott Distribution and characterization of regulatory elements in the human genome Genome Res 2002 12 1827 1836 1:CAS:528:DC%2BD38XpsVOqtbo%3D 10.1101/gr.606402 12466286 187578
37. T. Ushiroyama M. Heishi A. Ikeda M. Ueki Does the estrogen receptor gene polymorphism relate to undefined menopausal symptoms? Res Commun Mol Pathol Pharmacol 2001 109 3 14 1:CAS:528:DC%2BD3MXksFCqtbg%3D 11458983
38. A.E. Weel A.G. Uitterlinden I.C. Westendorp H. Burger S.C. Schuit A. Hofman T.J. Helmerhorst J.P. van Leeuwen H.A. Pols Estrogen receptor polymorphism predicts the onset of natural and surgical menopause J Clin Endocrinol Metab 1999 84 3146 3150 1:CAS:528:DyaK1MXlvVGksLg%3D 10487678
39. H.W. Deng J. Li J.L. Li R. Dowd K.M. Davies M. Johnson G. Gong H. Deng R.R. Recker Association of estrogen receptor-alpha genotypes with body mass index in normal healthy postmenopausal Caucasian women J Clin Endocrinol Metab 2000 85 2748 2751 1:CAS:528:DC%2BD3cXnslahsrs%3D 10946876
40. E. Weiderpass I. Persson H. Melhus S. Wedren A. Kindmark J.A. Baron Estrogen receptor alpha gene polymorphisms and endometrial cancer risk Carcinogenesis 2000 21 623 627 1:CAS:528:DC%2BD3cXivFKktLg%3D 10.1093/carcin/21.4.623 10753195
41. T.I. Andersen K.R. Heimdal M. Skrede K. Tveit K. Berg A.L. Borresen Oestrogen receptor (ESR) polymorphisms and breast cancer susceptibility Hum Genet 1994 94 665 670 1:CAS:528:DyaK2MXjsF2jsbk%3D 7989041
42. A. Shin D. Kang H. Nishio M.J. Lee S.K. Park S.U. Kim D.Y. Noh K.J. Choe S.H. Ahn A. Hirvonen J.H. Kim K.Y. Yoo Estrogen receptor alpha gene polymorphisms and breast cancer risk Breast Cancer Res Treat 2003 80 127 131 1:CAS:528:DC%2BD3sXkvVCksb8%3D 10.1023/A:1024439202528 12889606
43. H. Iwase J.M. Greenman D.M. Barnes S. Hodgson L. Bobrow C.G. Mathew Sequence variants of the estrogen receptor (ER) gene found in breast cancer patients with ER negative and progesterone receptor positive tumors Cancer Lett 1996 108 179 184 1:CAS:528:DyaK28XntFWqtLY%3D 10.1016/S0304-3835(96)04406-0 8973592
44. A. Vasconcelos R. Medeiros I. Veiga D. Pereira S. Carrilho C. Palmeira C. Azevedo C.S. Lopes Analysis of estrogen receptor polymorphism in codon 325 by PCR-SSCP in breast cancer: association with lymph node metastasis Breast J 2002 8 226 229 1:CAS:528:DC%2BD38XmsFans70%3D 10.1046/j.1524-4741.2002.08407.x 12100115
45. Q. Cai X.O. Shu F. Jin Q. Dai W. Wen J.R. Cheng Y.T. Gao W. Zheng 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 12 853 859 1:CAS:528:DC%2BD3sXnsValtrY%3D 14504194
46. S.M. Hill S.A. Fuqua G.C. Chamness G.L. Greene W.L. McGuire Estrogen receptor expression in human breast cancer associated with an estrogen receptor gene restriction fragment length polymorphism Cancer Res 1989 49 145 148 1:CAS:528:DyaL1MXntlWrsg%3D%3D 2562795
47. F.F. Parl D.R. Cavener W.D. Dupont Genomic DNA analysis of the estrogen receptor gene in breast cancer Breast Cancer Res Treat 1989 14 57 64 1:STN:280:DyaK3c7gsFOmsA%3D%3D 10.1007/BF01805976 2575000
48. E.L. Schubert M.K. Lee B. Newman M.C. King Single nucleotide polymorphisms (SNPs) in the estrogen receptor gene and breast cancer susceptibility J Steroid Biochem Mol Biol 1999 71 21 27 1:CAS:528:DC%2BD3cXlt1Ch 10.1016/S0960-0760(99)00126-0 10619354
49. M.C. Southey L.E. Batten M.R. McCredie G.G. Giles G. Dite J.L. Hopper D.J. Venter Estrogen receptor polymorphism at codon 325 and risk of breast cancer in women before age forty J Natl Cancer Inst 1998 90 532 536 1:CAS:528:DyaK1cXisVCnsbs%3D 10.1093/jnci/90.7.532 9539249
50. D.E. Comings R. Gade-Andavolu L.A. Cone D. Muhleman J.P. MacMurray A multigene test for the risk of sporadic breast carcinoma Cancer 2003 97 2160 2170 1:CAS:528:DC%2BD3sXjvVSjs78%3D 10.1002/cncr.11340 12712467
51. J.B. van Meurs S.C. Schuit A.E. Weel M. van der Klift A.P. Bergink P.P. Arp E.M. Colin Y. Fang A. Hofman C.M. van Duijn J.P. van Leeuwen H.A. Pols A.G. Uitterlinden Association of 5' estrogen receptor alpha gene polymorphisms with bone mineral density, vertebral bone area and fracture risk Hum Mol Genet 2003 12 1745 1754 1:CAS:528:DC%2BD3sXltFyhu7g%3D 10.1093/hmg/ddg176 12837697
52. Y. Giguere S. Dodin C. Blanchet K. Morgan F. Rousseau The association between heel ultrasound and hormone replacement therapy is modulated by a two-locus vitamin D and estrogen receptor genotype J Bone Miner Res 2000 15 1076 1084 1:CAS:528:DC%2BD3cXktFKhurw%3D 10.1359/jbmr.2000.15.6.1076 10841176
53. M.S. Patel D.E. Cole J.D. Smith G.A. Hawker B. Wong H. Trang R. Vieth P. Meltzer L.A. Rubin Alleles of the estrogen receptor alpha-gene and an estrogen receptor cotranscriptional activator gene, amplified in breast cancer-1 (AIB1), are associated with quantitative calcaneal ultrasound J Bone Miner Res 2000 15 2231 2239 1:CAS:528:DC%2BD3cXnvVKltLs%3D 10.1359/jbmr.2000.15.11.2231 11092404
54. E.M. Lau R.P. Young V. Lam M. Li J. Woo Estrogen receptor gene polymorphism and bone mineral density in postmenopausal Chinese women Bone 2001 29 96 98 1:CAS:528:DC%2BD3MXltlOis74%3D 10.1016/S8756-3282(01)00481-1 11472898
55. J.D. Terwilliger F. Haghighi T.S. Hiekkalinna H.H. Goring A bias-ed assessment of the use of SNPs in human complex traits Curr Opin Genet Dev 2002 12 726 734 1:CAS:528:DC%2BD38XosFOhs7k%3D 10.1016/S0959-437X(02)00357-X 12433588
56. S. Wacholder S. Chanock M. Garcia-Closas L. El Ghormli N. Rothman Assessing the probability that a positive report is false: an approach for molecular epidemiology studies J Natl Cancer Inst 2004 96 434 442 10.1093/jnci/djh075 15026468
57. H.J. Kang S.W. Kim H.J. Kim S.J. Ahn J.Y. Bae S.K. Park D. Kang A. Hirvonen K.J. Choe D.Y. Noh Polymorphisms in the estrogen receptor-alpha gene and breast cancer risk Cancer Lett 2002 178 175 180 1:CAS:528:DC%2BD38XhsFWhu7o%3D 10.1016/S0304-3835(01)00861-8 11867202