• 四川省腫瘤醫(yī)院乳腺科(四川成都 610041);

目的探討雌激素受體(ER)α基因Pvu Ⅱ和Xba Ⅰ 遺傳多態(tài)性與乳腺增生癥的相關(guān)性。方法應(yīng)用聚合酶鏈反應(yīng)限制性片段長(zhǎng)度多態(tài)性分析技術(shù)檢測(cè)89例乳腺增生癥患者(研究組)和35例健康體檢者(對(duì)照組)ERα基因Pvu Ⅱ和Xba Ⅰ 遺傳多態(tài)性。結(jié)果ERα基因Xba Ⅰ 位點(diǎn)的基因型頻率及等位基因頻率在研究組和對(duì)照組中的分布差異均有統(tǒng)計(jì)學(xué)意義(P lt;0.05)，等位基因頻率的相對(duì)風(fēng)險(xiǎn)分析，攜帶X等位基因者患乳腺增生癥的風(fēng)險(xiǎn)是x等位基因的0.551倍; Pvu Ⅱ 位點(diǎn)的基因型頻率及等位基因頻率在研究組和對(duì)照組中的分布差異均無(wú)統(tǒng)計(jì)學(xué)意義(P gt;0.05)。結(jié)論ERα基因Xba Ⅰ 遺傳多態(tài)性與乳腺增生癥發(fā)病有關(guān)，突變基因增加了乳腺增生癥的發(fā)病風(fēng)險(xiǎn)。

引用本文： 田超,陶蘋,李卉,龍啟明,胡銳. 雌激素受體α基因PvuⅡ、XbaⅠ遺傳多態(tài)性與乳腺增生癥的關(guān)系. 中國(guó)普外基礎(chǔ)與臨床雜志, 2011, 18(3): 305-308. doi: 復(fù)制

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. 陸旭, 李波, 韋軍民, 等. 雌激素α受體XbaⅠ和PvuⅡ基因多態(tài)性與乳腺癌相關(guān)性的研究 [J]. 中華外科雜志, 2005, 3(5): 290293.
7. 吳祥德, 董守義. 乳腺疾病診治 [M]. 北京: 人民衛(wèi)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. 陳琳, 楊金巧. 雌激素受體β與乳腺癌 [J]. 中國(guó)普外基礎(chǔ)與臨床雜志, 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. 劉臻, 崔東旭, 劉寶林, 等. β連環(huán)素基因在乳腺增生及癌組織中表達(dá)和突變的研究 [J]. 中國(guó)普外基礎(chǔ)與臨床雜志, 2007, 14(6): 685688.
15. 宋傳貴, 胡震, 袁文濤, 等. ERα基因多態(tài)性與無(wú)BRCA1/2基因突變的有遺傳傾向的乳腺癌的關(guān)系 [J]. 中華普通外科雜志, 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, 李文鳳, 柳曉義, 等. 家族性乳腺癌患者115例的BRCA1和BRCA2基因突變檢測(cè) [J]. 中華醫(yī)學(xué)雜志, 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. 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. 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. 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. 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. 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. 6. 陸旭, 李波, 韋軍民, 等. 雌激素α受體XbaⅠ和PvuⅡ基因多態(tài)性與乳腺癌相關(guān)性的研究 [J]. 中華外科雜志, 2005, 3(5): 290293.
  7. 7. 吳祥德, 董守義. 乳腺疾病診治 [M]. 北京: 人民衛(wèi)生出版社, 2000: 216221．.
  8. 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. 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. 10. 陳琳, 楊金巧. 雌激素受體β與乳腺癌 [J]. 中國(guó)普外基礎(chǔ)與臨床雜志, 2002, 9(5): 358360.
  11. 11. Jabbour HN, Kelly RW, Fraser HM, et al. Endocrine regulation of menstruation [J]. Endocr Rev, 2006, 27(1): 1746.
  12. 12. Herynk MH, Fuqua SA. Estrogen receptor mutations in human disease [J]. Endocr Rev, 2004, 25(6): 869898.
  13. 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. 14. 劉臻, 崔東旭, 劉寶林, 等. β連環(huán)素基因在乳腺增生及癌組織中表達(dá)和突變的研究 [J]. 中國(guó)普外基礎(chǔ)與臨床雜志, 2007, 14(6): 685688.
  15. 15. 宋傳貴, 胡震, 袁文濤, 等. ERα基因多態(tài)性與無(wú)BRCA1/2基因突變的有遺傳傾向的乳腺癌的關(guān)系 [J]. 中華普通外科雜志, 2006, 21(9): 637640.
  16. 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. 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. 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. 19. 胡震, 李文鳳, 柳曉義, 等. 家族性乳腺癌患者115例的BRCA1和BRCA2基因突變檢測(cè) [J]. 中華醫(yī)學(xué)雜志, 2008, 88(34): 23832386.
  20. 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. 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. 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. 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. 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. 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. 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.