雌激素受体α基因XbaⅠ和PvuⅡ多态性与乳腺癌关系研究进展
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摘要
乳腺癌是全球女性最常见的恶性肿瘤之一,是一种雌激素依赖性肿瘤。雌激素与雌激素受体作用而促进乳腺癌的发生发展。雌激素受体α基因存在遗传多态性,其中Xba I和PvuⅡ是研究最热最多的位点,但不同人群中的研究结论不一致。本文就ERα基因XbaⅠ和PvuⅡ多态性与乳腺癌关系进行了综述。
引文
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[6]Markiewicz A,Wetnicka-Ja S'kiewicz M,Skokowski J,et al. Prognostic significance of ESR1 amplification and ESR1 PvuII,CYP2C19*2,UGT2B15*2 polymorphisms in breast cancer patients[J].PloS one,2013,8(8):e72219.
[7]Gu Z,Wang G,Chen W.Estrogen receptor alpha gene polymorphisms and risk of prostate cancer:a meta-analysis involving 18 studies[J].Tumor Biology,2014,35(6):5921-5930.
[8]Wang T.Meta-analysis of PvuII,Xba I variants in ESR1 gene and the risk of Alzheimer's disease:the regional European difference[J].Neuroscience letters,2014,574:41-46.
[9]Caldon CE.Estrogen signaling and the DNA damage response in hormone dependent breast cancers[J]. Frontiers in oncology,2014,58(4):106.
[10]Maruyama H,Toji H,Harrington CR,et al.Lack of an association of estrogen receptorαgene polymorphisms and transcriptional activity with Alzheimer disease[J]. Archives of Neurology,2000,57(2):236-240.
[11]Herrington DM,Howard TD,Brosnihan KB,et al.Common estrogen receptor polymorphism augments effects of hormone replacement therapy on E-selectin but not C-reactive protein[J]. Circulation,2002,105(16):1879-1882.
[12]Shen Y,Li DK,Wu J,et al.Joint effects of the CYP1 A1 MspⅠ,ERαlpha PvuⅡ,and ERαlpha XbaⅠPolymorphisms 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.
[13]Shin A,Kang D,Nishio H,et al.Estrogen receptor alpha gene polymorphisms and breast cancer risk[J]. Breast cancer research and treatment,2003,80(1):127-131.
[14]Weiderpass E,Persson I,Adami HO,et al.Body size in different periods of life,diabetes mellitus,hypertension,and risk of postmenopausal endometrial cancer(Sweden)[J]. Cancer Causes&Control,2000,11(2):185-192.
[15]Giacomazzi J,Aguiar E,Palmero EI,et al. Prevalence of ERα-397PvuII C/T,ERα-351 Xba I A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women[J].Brazilian Journal of Medical and Biological Research,2012,45(10):891-897.
[16] Li LW,Xu L. Menopausal status modifies breast cancer risk associated with ESR1 PvuII and Xba I polymorphisms in Asian women:a HuGE review and meta-analysis[J].Asian Pacific Journal of Cancer Prevention,2012,13(10):5105-5111.
[17]Zhang Y,Zhang M,Yuan X,et al.Association between ESR1 PvuII,Xba I,and P325P polymorphisms and breast cancer susceptibility:a meta-analysis[J]. Medical science monitor:international medical journal of experimental and clinical research,2015,21:2986.
[18]Madeira KP,DaltoéRD,Sirtoli GM,et al. Estrogen receptor alpha(ERS1)SNPs c454-397 T> C(PvuII)and c454-351 A> G(XbaI)are risk biomarkers for breast cancer development[J].Molecular biology reports,2014,41(8):5459-5466.
[19]Zhang Z,Zhang C,Li Y,et al.Association between ERαgene Pvu II polymorphism and breast cancer susceptibility:A meta-analysis[J].Medicine,2018,97(17):317
[20]Hu X,Jiang L,Tang C,et al.Association of three single nucleotide polymorphisms of ESR1 with breast cancer susceptibility:a meta-analysis[J].Journal of biomedical research,2017,31(3):213.
[21] Chattopadhyay S,Siddiqui S,Akhtar MS,et al. Genetic polymorphisms of ESR1,ESR2,CYP17 A1,and CYP19 A1 and the risk of breast cancer:a case control study from North India[J].Tumor Biology,2014,35(5):4517-4527.
[22]Ghali RM,Al-Mutawa MA,Al-Ansari AK,et al. Differential association of ESR1 and ESR2 gene variants with the risk of breast cancer and associated features:A case-control study[J]. Gene,2018,651:194-199.
[23]Sakoda LC,Blackston CR,Doherty JA,et al. Selected estrogen receptor 1 and androgen receptor gene polymorphisms in relation to risk of breast cancer and fibrocystic breast conditions among Chinese women[J].Cancer epidemiology,2011,35(1):48-55.
[24]Tang LY,Chen LJ,Qi ML,et al.Effects of passive smoking on breast cancer risk in pre/post-menopausal women as modified by polymorphisms of PARP1 and ESR1[J].Gene,2013,524(2):84-89.
[25]Sun H,Deng Q,Pan Y,et al.Association between estrogen receptor 1(ESR1)genetic variations and cancer risk:a meta-analysis[J]. J BUON,2015,20(1):296-308.
[26]张珍连,闻淑娟,胡欣,等.ERαPvuⅡ,XbaⅠ及CYP1 A1 MspⅠ基因多态性联合作用与新疆维吾尔族女性乳腺癌发病相关性研究[J].中国肿瘤,2018,22(3):234-240.
[27]Leyland-Jones B,Gray KP,Abramovitz M,et al.ESR1 and ESR2 polymorphisms in the BIG 1-98 trial comparing adjuvant letrozole versus tamoxifen or their sequence for early breast cancer[J].Breast cancer research and treatment,2015,154(3):543-555.
[28]Ramalhinho AC,Marques J,Fonseca-Moutinho JA,et al. Genetic polymorphims of estrogen receptor alpha-397 PvuII(T> C)and-351 XbaI(A> G)in a portuguese population:prevalence and relation with breast cancer susceptibility[J].Molecular biology reports,2013,40(8):5093-5103.
[29]曹兰青,李卉,刘莉,等.四川省女性ERα基因多态性与乳腺癌风险关系的病例对照研究[J].肿瘤预防与治疗,2014,27(4):171-175.
[30]Atoum MF,Alzoughool F. Reduction in breast cancer susceptibility due to Xba I gene polymorphism of alpha estrogen receptor gene in Jordanians[J]. Breast Cancer:Targets and Therapy,2017,32(9):45-49.
[2]Goss PE,Strasser-Weippl K,Lee-Bychkovsky BL,et al.Challenges to effective cancer control in China,India,and Russia[J]. The lancet oncology,2014,15(5):489-538.
[3]Butt Z,Haider SF,Arif S,et al.Breast cancer risk factors:a comparison between pre-menopausal and post-menopausal women[J].JPMAJournal of the Pakistan Medical Association,2012,62(2):120.
[4]Pelekanou V,Notas G,Kampa M,et al.ERα36,a new variant of the ERαis expressed in triple negative breast carcinomas and has a specific transcriptomic signature in breast cancer cell lines[J].Steroids,2012,77(10):928-934.
[5]Maggiolini M,Picard D.The unfolding stories of GPR30,a new membrane-bound estrogen receptor[J]. Journal of Endocrinology,2010,204(2):105-114..
[6]Markiewicz A,Wetnicka-Ja S'kiewicz M,Skokowski J,et al. Prognostic significance of ESR1 amplification and ESR1 PvuII,CYP2C19*2,UGT2B15*2 polymorphisms in breast cancer patients[J].PloS one,2013,8(8):e72219.
[7]Gu Z,Wang G,Chen W.Estrogen receptor alpha gene polymorphisms and risk of prostate cancer:a meta-analysis involving 18 studies[J].Tumor Biology,2014,35(6):5921-5930.
[8]Wang T.Meta-analysis of PvuII,Xba I variants in ESR1 gene and the risk of Alzheimer's disease:the regional European difference[J].Neuroscience letters,2014,574:41-46.
[9]Caldon CE.Estrogen signaling and the DNA damage response in hormone dependent breast cancers[J]. Frontiers in oncology,2014,58(4):106.
[10]Maruyama H,Toji H,Harrington CR,et al.Lack of an association of estrogen receptorαgene polymorphisms and transcriptional activity with Alzheimer disease[J]. Archives of Neurology,2000,57(2):236-240.
[11]Herrington DM,Howard TD,Brosnihan KB,et al.Common estrogen receptor polymorphism augments effects of hormone replacement therapy on E-selectin but not C-reactive protein[J]. Circulation,2002,105(16):1879-1882.
[12]Shen Y,Li DK,Wu J,et al.Joint effects of the CYP1 A1 MspⅠ,ERαlpha PvuⅡ,and ERαlpha XbaⅠPolymorphisms 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.
[13]Shin A,Kang D,Nishio H,et al.Estrogen receptor alpha gene polymorphisms and breast cancer risk[J]. Breast cancer research and treatment,2003,80(1):127-131.
[14]Weiderpass E,Persson I,Adami HO,et al.Body size in different periods of life,diabetes mellitus,hypertension,and risk of postmenopausal endometrial cancer(Sweden)[J]. Cancer Causes&Control,2000,11(2):185-192.
[15]Giacomazzi J,Aguiar E,Palmero EI,et al. Prevalence of ERα-397PvuII C/T,ERα-351 Xba I A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women[J].Brazilian Journal of Medical and Biological Research,2012,45(10):891-897.
[16] Li LW,Xu L. Menopausal status modifies breast cancer risk associated with ESR1 PvuII and Xba I polymorphisms in Asian women:a HuGE review and meta-analysis[J].Asian Pacific Journal of Cancer Prevention,2012,13(10):5105-5111.
[17]Zhang Y,Zhang M,Yuan X,et al.Association between ESR1 PvuII,Xba I,and P325P polymorphisms and breast cancer susceptibility:a meta-analysis[J]. Medical science monitor:international medical journal of experimental and clinical research,2015,21:2986.
[18]Madeira KP,DaltoéRD,Sirtoli GM,et al. Estrogen receptor alpha(ERS1)SNPs c454-397 T> C(PvuII)and c454-351 A> G(XbaI)are risk biomarkers for breast cancer development[J].Molecular biology reports,2014,41(8):5459-5466.
[19]Zhang Z,Zhang C,Li Y,et al.Association between ERαgene Pvu II polymorphism and breast cancer susceptibility:A meta-analysis[J].Medicine,2018,97(17):317
[20]Hu X,Jiang L,Tang C,et al.Association of three single nucleotide polymorphisms of ESR1 with breast cancer susceptibility:a meta-analysis[J].Journal of biomedical research,2017,31(3):213.
[21] Chattopadhyay S,Siddiqui S,Akhtar MS,et al. Genetic polymorphisms of ESR1,ESR2,CYP17 A1,and CYP19 A1 and the risk of breast cancer:a case control study from North India[J].Tumor Biology,2014,35(5):4517-4527.
[22]Ghali RM,Al-Mutawa MA,Al-Ansari AK,et al. Differential association of ESR1 and ESR2 gene variants with the risk of breast cancer and associated features:A case-control study[J]. Gene,2018,651:194-199.
[23]Sakoda LC,Blackston CR,Doherty JA,et al. Selected estrogen receptor 1 and androgen receptor gene polymorphisms in relation to risk of breast cancer and fibrocystic breast conditions among Chinese women[J].Cancer epidemiology,2011,35(1):48-55.
[24]Tang LY,Chen LJ,Qi ML,et al.Effects of passive smoking on breast cancer risk in pre/post-menopausal women as modified by polymorphisms of PARP1 and ESR1[J].Gene,2013,524(2):84-89.
[25]Sun H,Deng Q,Pan Y,et al.Association between estrogen receptor 1(ESR1)genetic variations and cancer risk:a meta-analysis[J]. J BUON,2015,20(1):296-308.
[26]张珍连,闻淑娟,胡欣,等.ERαPvuⅡ,XbaⅠ及CYP1 A1 MspⅠ基因多态性联合作用与新疆维吾尔族女性乳腺癌发病相关性研究[J].中国肿瘤,2018,22(3):234-240.
[27]Leyland-Jones B,Gray KP,Abramovitz M,et al.ESR1 and ESR2 polymorphisms in the BIG 1-98 trial comparing adjuvant letrozole versus tamoxifen or their sequence for early breast cancer[J].Breast cancer research and treatment,2015,154(3):543-555.
[28]Ramalhinho AC,Marques J,Fonseca-Moutinho JA,et al. Genetic polymorphims of estrogen receptor alpha-397 PvuII(T> C)and-351 XbaI(A> G)in a portuguese population:prevalence and relation with breast cancer susceptibility[J].Molecular biology reports,2013,40(8):5093-5103.
[29]曹兰青,李卉,刘莉,等.四川省女性ERα基因多态性与乳腺癌风险关系的病例对照研究[J].肿瘤预防与治疗,2014,27(4):171-175.
[30]Atoum MF,Alzoughool F. Reduction in breast cancer susceptibility due to Xba I gene polymorphism of alpha estrogen receptor gene in Jordanians[J]. Breast Cancer:Targets and Therapy,2017,32(9):45-49.