• 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)限制性片段長度多態(tài)性分析技術(shù)檢測89例乳腺增生癥患者(研究組)和35例健康體檢者(對照組)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照組中的分布差異均無統(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. 中國普外基礎(chǔ)與臨床雜志, 2011, 18(3): 305-308. doi: 復(fù)制

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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 [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 [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.