Relationship Between Estrogen Receptor α Gene PvuⅡ, XbaⅠPolymorphism and Breast Hyperplasia_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

TIAN Chao , TAO Ping , LI Hui , LONG Qiming , HU Rui.

Department of Breast Surgery, Sichuan Province Tumor Hospital, Chengdu 610041, Sichuan Province, China;

Corresponding author：

Keywords：

Breast hyperplasia; Estrogen receptor; Gene polymorphism

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ObjectiveTo investigate the relationship between the polymorphisms of estrogen receptor α (ERα) gene PvuⅡ, XbaⅠ and breast hyperplasia. MethodsPolymerase chain reaction-restriction fragment length polymorphism was used to detect the polymorphisms of ERα gene PvuⅡ, XbaⅠ in breast hyperplasia patients (study group, n=89) and healthy controls (control group, n=35). ResultsThe differences of the genotypic frequency and allele frequency of the ERα gene Xba Ⅰ were significant between the study group and the control group (P lt;0.05). According to analysis of the odds ratio (OR), the risk of developing breast hyperplasia for X allele carriers was 0.551 as compared with x allele carriers. But there was no significant difference for the gene polymorphism of PvuⅡ between the study group and the control group (P gt;0.05). ConclusionThe polymorphisms of XbaⅠof ERα gene is associated with breast hyperplasia and the mutant gene increases breast hyperplasia risk.

Citation： TIAN Chao,TAO Ping,LI Hui,LONG Qiming,HU Rui.. Relationship Between Estrogen Receptor α Gene PvuⅡ, XbaⅠPolymorphism and Breast Hyperplasia. CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY, 2011, 18(3): 305-308. doi: Copy

1.	Boughey JC, Hartmann LC, Anderson SS, et al. Evaluation of the TyrerCuzick (International Breast Cancer Intervention Study) model for breast cancer risk prediction in women with atypical hyperplasia [J]. J Clin Oncol, 2010, 28(22): 35913596.
2.	Menes TS, Kerlikowske K, Jaffer S, et al. Rates of atypical ductal hyperplasia have declined with less use of postmenopausal hormone treatment: findings from the Breast Cancer Surveillance Consortium [J]. Cancer Epidemiol Biomarkers Prev, 2009, 18(11): 28222828.
3.	Jang M, Cho N, Moon WK, et al. Underestimation of atypical ductal hyperplasia at sonographically guided core biopsy of the breast [J]. AJR Am J Roentgenol, 2008, 191(5): 13471351.
4.	Hu P, Kinyamu HK, Wang L, et al. Estrogen induces estrogenrelated receptor alpha gene expression and chromatin structural changes in estrogen receptor (ER)positive and ERnegative breast cancer cells [J]. J Biol Chem, 2008, 283(11): 67526763.
5.	Hernández J, Balic I, JohnsonPais TL, et al. Association between an estrogen receptor alpha gene polymorphism and the risk of prostate cancer in black men [J]. J Urol, 2006, 175(2): 523527.
6.	陆旭, 李波, 韦军民, 等. 雌激素α受体XbaⅠ和PvuⅡ基因多态性与乳腺癌相关性的研究 [J]. 中华外科杂志, 2005, 3(5): 290293.
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8.	Jakimiuk A, Nowicka M, Bogusiewicz M, et al. Prevalence of estrogen receptor alpha PvuⅡ and XbaⅠ polymorphism in population of Polish postmenopausal women [J]. Folia Histochem Cytobiol, 2007, 45(4): 331338.
9.	Grundberg E, Ribom EL, Brndstrm H, et al. A TArepeat polymorphism in the gene for the estrogen receptor alpha does not correlate with muscle strength or body composition in young adult Swedish women [J]. Maturitas, 2005, 50(3): 153160.
10.	陈琳, 杨金巧. 雌激素受体β与乳腺癌 [J]. 中国普外基础与临床杂志, 2002, 9(5): 358360.
11.	Jabbour HN, Kelly RW, Fraser HM, et al. Endocrine regulation of menstruation [J]. Endocr Rev, 2006, 27(1): 1746.
12.	Herynk MH, Fuqua SA. Estrogen receptor mutations in human disease [J]. Endocr Rev, 2004, 25(6): 869898.
13.	van Duijnhoven FJ, Bezemer ID, Peeters PH, et al. Polymorphisms in the estrogen receptor alpha gene and mammographic density [J]. Cancer Epidemiol Biomarkers Prev, 2005, 14(11 Pt 1): 26552660.
14.	刘臻, 崔东旭, 刘宝林, 等. β连环素基因在乳腺增生及癌组织中表达和突变的研究 [J]. 中国普外基础与临床杂志, 2007, 14(6): 685688.
15.	宋传贵, 胡震, 袁文涛, 等. ERα基因多态性与无BRCA1/2基因突变的有遗传倾向的乳腺癌的关系 [J]. 中华普通外科杂志, 2006, 21(9): 637640.
16.	Shen Y, Li DK, Wu J, et al. 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 [J]. Cancer Epidemiol Biomarkers Prev, 2006, 15(2): 342347.
17.	Sapino A, Cassoni P, Ferrero E, et al. Estrogen receptor alpha is a novel marker expressed by follicular dendritic cells in lymph nodes and tumorassociated lymphoid infiltrates [J]. Am J Pathol, 2003, 163(4): 13131320.
18.	DíazCruz ES, Furth PA. Deregulated estrogen receptor alpha and p53 heterozygosity collaborate in the development of mammary hyperplasia [J]. Cancer Res, 2010, 70(10): 39653974.
19.	胡震, 李文凤, 柳晓义, 等. 家族性乳腺癌患者115例的BRCA1和BRCA2基因突变检测 [J]. 中华医学杂志, 2008, 88(34): 23832386.
20.	Fernández LP, Milne RL, Barroso E, et al. Estrogen and progesterone receptor gene polymorphisms and sporadic breast cancer risk: a Spanish casecontrol study [J]. Int J Cancer, 2006, 119(2): 467471.
21.	Nilsson M, Naessén S, Dahlman I, et al. Association of estrogen receptor beta gene polymorphisms with bulimic disease in women [J]. Mol Psychiatry, 2004, 9(1): 2834.
22.	Shin A, Kang D, Nishio H, et al. Estrogen receptor alpha gene polymorphisms and breast cancer risk [J]. Breast Cancer Res Treat, 2003, 80(1): 127131.
23.	Zagouri F, Sergentanis TN, Zografos GC. Precursors and preinvasive lesions of the breast: the role of molecular prognostic markers in the diagnostic and therapeutic dilemma [J]. World J Surg Oncol, 2007, 5: 5767.
24.	Conway K, Parrish E, Edmiston SN, et al. The estrogen receptoralpha A908G (K303R) mutation occurs at a low frequency in invasive breast tumors: results from a populationbased study [J]. Breast Cancer Res, 2005, 7(6): R871R880.
25.	OnlandMoret NC, van Gils CH, Roest M, et al. The estrogen receptor alpha gene and breast cancer risk (The Netherlands) [J]. Cancer Causes Control, 2005, 16(10): 11951202.
26.	Zhang Z, Yamashita H, Toyama T, et al. Estrogen receptor alpha mutation (AtoG transition at nucleotide 908) is not found in different types of breast lesions from Japanese women [J]. Breast Cancer, 2003, 10(1): 7073.

1. Boughey JC, Hartmann LC, Anderson SS, et al. Evaluation of the TyrerCuzick (International Breast Cancer Intervention Study) model for breast cancer risk prediction in women with atypical hyperplasia [J]. J Clin Oncol, 2010, 28(22): 35913596.
2. Menes TS, Kerlikowske K, Jaffer S, et al. Rates of atypical ductal hyperplasia have declined with less use of postmenopausal hormone treatment: findings from the Breast Cancer Surveillance Consortium [J]. Cancer Epidemiol Biomarkers Prev, 2009, 18(11): 28222828.
3. Jang M, Cho N, Moon WK, et al. Underestimation of atypical ductal hyperplasia at sonographically guided core biopsy of the breast [J]. AJR Am J Roentgenol, 2008, 191(5): 13471351.
4. Hu P, Kinyamu HK, Wang L, et al. Estrogen induces estrogenrelated receptor alpha gene expression and chromatin structural changes in estrogen receptor (ER)positive and ERnegative breast cancer cells [J]. J Biol Chem, 2008, 283(11): 67526763.
5. Hernández J, Balic I, JohnsonPais TL, et al. Association between an estrogen receptor alpha gene polymorphism and the risk of prostate cancer in black men [J]. J Urol, 2006, 175(2): 523527.
6. 陆旭, 李波, 韦军民, 等. 雌激素α受体XbaⅠ和PvuⅡ基因多态性与乳腺癌相关性的研究 [J]. 中华外科杂志, 2005, 3(5): 290293.
7. 吴祥德, 董守义. 乳腺疾病诊治 [M]. 北京: 人民卫生出版社, 2000: 216221．.
8. Jakimiuk A, Nowicka M, Bogusiewicz M, et al. Prevalence of estrogen receptor alpha PvuⅡ and XbaⅠ polymorphism in population of Polish postmenopausal women [J]. Folia Histochem Cytobiol, 2007, 45(4): 331338.
9. Grundberg E, Ribom EL, Brndstrm H, et al. A TArepeat polymorphism in the gene for the estrogen receptor alpha does not correlate with muscle strength or body composition in young adult Swedish women [J]. Maturitas, 2005, 50(3): 153160.
10. 陈琳, 杨金巧. 雌激素受体β与乳腺癌 [J]. 中国普外基础与临床杂志, 2002, 9(5): 358360.
11. Jabbour HN, Kelly RW, Fraser HM, et al. Endocrine regulation of menstruation [J]. Endocr Rev, 2006, 27(1): 1746.
12. Herynk MH, Fuqua SA. Estrogen receptor mutations in human disease [J]. Endocr Rev, 2004, 25(6): 869898.
13. van Duijnhoven FJ, Bezemer ID, Peeters PH, et al. Polymorphisms in the estrogen receptor alpha gene and mammographic density [J]. Cancer Epidemiol Biomarkers Prev, 2005, 14(11 Pt 1): 26552660.
14. 刘臻, 崔东旭, 刘宝林, 等. β连环素基因在乳腺增生及癌组织中表达和突变的研究 [J]. 中国普外基础与临床杂志, 2007, 14(6): 685688.
15. 宋传贵, 胡震, 袁文涛, 等. ERα基因多态性与无BRCA1/2基因突变的有遗传倾向的乳腺癌的关系 [J]. 中华普通外科杂志, 2006, 21(9): 637640.
16. Shen Y, Li DK, Wu J, et al. 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 [J]. Cancer Epidemiol Biomarkers Prev, 2006, 15(2): 342347.
17. Sapino A, Cassoni P, Ferrero E, et al. Estrogen receptor alpha is a novel marker expressed by follicular dendritic cells in lymph nodes and tumorassociated lymphoid infiltrates [J]. Am J Pathol, 2003, 163(4): 13131320.
18. DíazCruz ES, Furth PA. Deregulated estrogen receptor alpha and p53 heterozygosity collaborate in the development of mammary hyperplasia [J]. Cancer Res, 2010, 70(10): 39653974.
19. 胡震, 李文凤, 柳晓义, 等. 家族性乳腺癌患者115例的BRCA1和BRCA2基因突变检测 [J]. 中华医学杂志, 2008, 88(34): 23832386.
20. Fernández LP, Milne RL, Barroso E, et al. Estrogen and progesterone receptor gene polymorphisms and sporadic breast cancer risk: a Spanish casecontrol study [J]. Int J Cancer, 2006, 119(2): 467471.
21. Nilsson M, Naessén S, Dahlman I, et al. Association of estrogen receptor beta gene polymorphisms with bulimic disease in women [J]. Mol Psychiatry, 2004, 9(1): 2834.
22. Shin A, Kang D, Nishio H, et al. Estrogen receptor alpha gene polymorphisms and breast cancer risk [J]. Breast Cancer Res Treat, 2003, 80(1): 127131.
23. Zagouri F, Sergentanis TN, Zografos GC. Precursors and preinvasive lesions of the breast: the role of molecular prognostic markers in the diagnostic and therapeutic dilemma [J]. World J Surg Oncol, 2007, 5: 5767.
24. Conway K, Parrish E, Edmiston SN, et al. The estrogen receptoralpha A908G (K303R) mutation occurs at a low frequency in invasive breast tumors: results from a populationbased study [J]. Breast Cancer Res, 2005, 7(6): R871R880.
25. OnlandMoret NC, van Gils CH, Roest M, et al. The estrogen receptor alpha gene and breast cancer risk (The Netherlands) [J]. Cancer Causes Control, 2005, 16(10): 11951202.
26. Zhang Z, Yamashita H, Toyama T, et al. Estrogen receptor alpha mutation (AtoG transition at nucleotide 908) is not found in different types of breast lesions from Japanese women [J]. Breast Cancer, 2003, 10(1): 7073.

CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Relationship Between Estrogen Receptor α Gene PvuⅡ, XbaⅠPolymorphism and Breast Hyperplasia

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