切换至 "中华医学电子期刊资源库"

中华乳腺病杂志(电子版) ›› 2021, Vol. 15 ›› Issue (02) : 112 -116. doi: 10.3877/cma.j.issn.1674-0807.2021.02.009

所属专题: 文献

综述

基因多态性对芳香化酶抑制剂疗效的影响
陈莉1, 陈雪松1,()   
  1. 1. 150081 哈尔滨医科大学附属肿瘤医院乳腺内四科
  • 收稿日期:2018-12-06 出版日期:2021-04-01
  • 通信作者: 陈雪松

Influence of gene polymorphism on efficacy of aromatase inhibitors

Li Chen1, Xuesong Chen1()   

  • Received:2018-12-06 Published:2021-04-01
  • Corresponding author: Xuesong Chen
引用本文:

陈莉, 陈雪松. 基因多态性对芳香化酶抑制剂疗效的影响[J]. 中华乳腺病杂志(电子版), 2021, 15(02): 112-116.

Li Chen, Xuesong Chen. Influence of gene polymorphism on efficacy of aromatase inhibitors[J]. Chinese Journal of Breast Disease(Electronic Edition), 2021, 15(02): 112-116.

芳香化酶抑制剂(AIs)是绝经后激素受体阳性乳腺癌患者的首选内分泌药物。AIs相关基因的单核苷酸多态性(SNP)可能引起个体酶特异性催化活性的改变,从而导致个体间存在差异。相关研究提示,药物代谢酶及其相关基因的SNP是预测乳腺癌患者AIs疗效和不良反应的生物标志物,可指导乳腺癌患者接受更加个体化的内分泌治疗方案。笔者就AIs相关代谢酶、相关转运蛋白及其他相关基因的SNP对药物疗效和不良反应的影响作一介绍。

表1 AIs相关基因的SNP对其的影响
[1]
Fernández MF, Reina-Pérez I, Astorga JM,et al. Breast cancer and its relationship with the microbiota[J]. Int J Environ Res Public Health,2018,15(8):1747.
[2]
Peddi PF. Hormone receptor positive breast cancer:state of the art[J]. Curr Opin Obstet Gynecol,2018,30 (1): 51-54.
[3]
Condorelli R, Vaz-Luis I. Managing side effects in adjuvant endocrine therapy for breast cancer[J]. Expert Rev Anticancer Ther,2018,18(11): 1101-1112.
[4]
李焱,鲁海玲,霍明鸣,等. 芳香化酶抑制剂耐药机制研究进展[J/CD]. 中华乳腺病杂志(电子版),2017,11(3):171-174.
[5]
Borrie AE, Rose RV, Choi YH, et al.Letrozole concentration is associated with CYP2A6 variation but not with arthralgia in patients with breast cancer[J]. Breast Cancer Res Treat,2018,172(2): 371-379.
[6]
Luo S, Chen G, Truica C,et al. Role of the UGT2B17 deletion in exemestane pharmacogenetics [J]. Pharmacogenomics J,2018,18(2):295-300.
[7]
Early Breast Cancer Trialists’Collaborative Group (EBCTCG). Aromatase inhibitors versus tamoxifen in early breast cancer:patient-level meta-analysis of the randomised trials[J]. Lancet,2015,386(10 001):1341-1352.
[8]
霍明鸣,庞慧,李焱,等. 激素受体阳性晚期乳腺癌内分泌治疗的优化选择[J/CD]. 中华乳腺病杂志(电子版) ,2017,11(1): 43-46.
[9]
Shoombuatong W, Schaduangrat N, Nantasenamat C. Towards understanding aromatase inhibitory activity via QSAR modeling[J]. EXCLI J,2018,17:688-708.
[10]
Kang H, Xiao X, Huang C, et al. Potent aromatase inhibitors and molecular mechanism of inhibitory action[J]. Eur J Med Chem,2018,143:426-437.
[11]
Augusto TV, Correia-da-Silva G, Rodrigues CMP, et al. Acquired resistance to aromatase inhibitors: where we stand! [J]. Endocr Relat Cancer,2018,25 (5): R283-R301.
[12]
Hamadeh IS, Patel JN, Rusin S,et al. Personalizing aromatase inhibitor therapy in patients with breast cancer[J]. Cancer Treat Rev,2018,70:47-55.
[13]
Elfaki I, Mir R, Almutairi FM, et al. Cytochrome P450: polymorphisms and roles in cancer, diabetes and atherosclerosis[J]. Asian Pac J Cancer Prev,2018,19 (8): 2057-2070.
[14]
Liu X, Low SK and Boddy AV.The implications of genetic variation for the pharmacokinetics and pharmacodynamics of aromatase inhibitors[J]. Expert Opin Drug Metab Toxicol,2016,12(8): 851-863.
[15]
Kaewlert W, Sakonsinsiri C, Namwat N,et al. The importance of CYP19A1 in estrogen receptor-positive cholangiocarcinoma[J]. Horm Cancer,2018,9(6): 408-419.
[16]
Artigalas O, Vanni T, Hutz MH, et al. Influence of CYP19A1 polymorphisms on the treatment of breast cancer with aromatase inhibitors: a systematic review and meta-analysis[J]. BMC Med,2015,13:139
[17]
Shao X, Cai J, Zheng Y,et al. S4646 polymorphism in CYP19A1 gene is associated with the effcacy of hormone therapy in early breast cancer[J]. Int J Clin Exp Pathol 2015,8(5):5309-5317.
[18]
刘磊,孔凡巍,李庆华,等. CYP19A1基因多态性与晚期乳腺癌阿那曲唑治疗疗效相关性研究[J]. 中国肿瘤,2017,26(9):740-744.
[19]
Glubb DM, O’Mara TA, Shamsani J, et al. The association of CYP19A1 variation with circulating estradiol and aromatase inhibitor outcome: can CYP19A1 variants be used to predict treatment efficacy? [J]. Front Pharmacol,2017,8:218.
[20]
Gervasini G, Jara C, Olier C, et al.Polymorphisms in ABCB1 and CYP19A1 genes affect anastrozole plasma concentrations and clinical outcomes in postmenopausal breast cancer patients [J]. Br J Clin Pharmacol,2017,83(3): 562-571.
[21]
Ferraldeschi R, Arnedos M, Hadfield KD,et al. Polymorphisms of CYP19A1 and response to aromatase inhibitors in metastatic breast cancer patients [J]. Breast Cancer Res Treat,2012,133:1191-1198.
[22]
Johansson H, Gray KP, Pagani O, et al.Impact of CYP19A1 and ESR1 variants on early-onset side effects during combined endocrine therapy in the TEXT trial [J]. Breast Cancer Res,2016,18 (1): 110.
[23]
Napoli N, Rastelli A, Ma C, et al. Genetic polymorphism at Val80 (rs700518) of the CYP19A1 gene is associated with body composition changes in women on aromatase inhibitors for ER (+) breast cancer [J]. Pharmacogenet Genomics,2015,25(8): 377-381.
[24]
Mazzuca F, Botticelli A, Mazzotti E, et al. CYP19A1 genetic polymorphisms rs4646 and osteoporosis in patients treated with aromatase inhibitor-based adjuvant therapy[J]. Eurasian J Med,2016, 48(1): 10-14.
[25]
Santa-Maria CA, Blackford A, Nguyen AT,et al. Association of variants in candidate genes with lipid profiles in women with early breast cancer on adjuvant aromatase inhibitor therapy[J]. Clin Cancer Res,2015,22(6):1395-1402.
[26]
Zheng Y, Xu Y, Zhou BY,et al. CYP3A4*1B polymorphism and cancer risk: a meta-analysis based on 55 case-control studies [J]. Ann Clin Lab Sci,2018,48(4):538-545.
[27]
Zhang Y, Wu J, Zhou Y,et al. Effects of psoralen on the pharmacokinetics of anastrozole in rats[J]. Pharm Biol,2018,56 (1): 433-439.
[28]
Hertz DL, Kidwell KM, Seewald NJ,et al. Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in postmenopausal patients with breast cancer[J]. Pharmacogenomics J,2017,17(6): 521-527.
[29]
Hertz DL, Henry NL, Rae JM. Germline genetic predictors of aromatase inhibitor concentrations, estrogen suppression and drug effcacy and toxicity in breast cancer patients [J]. Pharmacogenomics,2017,18(5):481-499.
[30]
Tanner JA and Tyndale RF.Variation in CYP2A6 activity and personalized medicine [J]. J Pers Med,2017,7(4):18.
[31]
Wassenaar CA, Zhou Q, Tyndale RF. CYP2A6 genotyping methods and strategies using real-time and end point PCR platforms [J]. Pharmacogenomics,2016,17(2):147-162.
[32]
Yang N, Sun R, Liao X, et al.UDP-glucuronosyltransferases (UGTs) and their related metabolic cross-talk with internal homeostasis: A systematic review of UGT isoforms for precision medicine [J]. Pharmacol Res,2017,121:169-183.
[33]
Abubakar MB, Wei K, Gan SH. The influence of genetic polymorphisms on the efficacy and side effects of anastrozole in postmenopausal breast cancer patients [J]. Pharmacogenet Genomics,2014,24 (12): 575-581.
[34]
Edavana VK, Dhakal IB, Williams S,et al. Potential role of UGT1A4 promoter SNPs in anastrozole pharmacogenomics [J]. Drug Metab Dispos,2013,41(4):870-877.
[35]
Gregory BJ, Chen SM, Murphy MA,et al. Impact of the OATP1B1 c.521T>C single nucleotide polymorphism on the pharmacokinetics of exemestane in healthy post-menopausal female volunteers [J]. J Clin Pharm Ther,2017,42 (5): 547-553.
[36]
Rizner TL, Penning TM. Role of aldo-keto reductase family 1 (AKR1) enzymes in human steroid metabolism [J]. Steroids,2014, 79: 49-63.
[37]
Platt A, Xia Z, Liu Y,et al. Impact of nonsynonymous single nucleotide polymorphisms on in-vitro metabolism of exemestane by hepatic cytosolic reductases[J]. Pharmacogenet Genomics,2016,26(8): 370-380.
[38]
Sjostedt N, Holvikari K, Tammela P,et al. Inhibition of breast cancer resistance protein and multidrug resistance associated protein 2 by natural compounds and their derivatives[J]. Mol Pharm,2017,14(1): 135-146.
[39]
Edavana VK, Penney RB, Yao-Borengasser A,et al. Effect of MRP2 and MRP3 polymorphisms on anastrozole glucuronidation and MRP2 and MRP3 gene expression in normal liver samples[J]. Int J Cancer Res Mol Mech,2015,1(3):10.16966/2381-3318.112.
[40]
Hertz DL, Barlow WE, Kidwell KM ,et al. Fulvestrant decreases anastrozole drug concentrations when taken concurrently by patients with metastatic breast cancer treated on swog study s0226[J]. Br J Clin Pharmacol,2016, 81(6):1134-1141.
[41]
Zhang B, Lauschke VM. Genetic variability and population diversity of the human SLCO (OATP) transporter family [J]. Pharmacol Res,2019,139:550-559.
[42]
Mosly D, Turnbull A, Sims A,et al. Predictive markers of endocrine response in breast cancer [J]. World J Exp Med,2018,8(1): 1-7.
[43]
Reinert T, Goncalves R, Bines J. Implications of ESR1 mutations in hormone receptor-positive breast cancer [J]. Curr Treat Options Oncol,2018,19 (5): 24.
[44]
Angus L, Beije N, Jager A,et al. ESR1 mutations: Moving towards guiding treatment decision-making in metastatic breast cancer patients [J]. Cancer Treat Rev,2017,52:33-40.
[45]
Ho MF, Ingle JN, Bongartz T,et al. TCL1A single-nucleotide polymorphisms and estrogen-mediated toll-like receptor-MYD88-dependent nuclear factor-κB activation: single-nucleotide polymorphism- and selective estrogen receptor modulator-dependent modification of inflammation and immune response [J]. Mol Pharmacol,2017,92(2): 175-184.
[46]
Ho MF, Lummertz da Rocha E, Zhang C,et al. TCL1A, a novel transcription factor and a coregulator of nuclear factor κB p65: Single nucleotide polymorphism and estrogen dependence [J]. J Pharmacol Exp Ther,2018,365(3): 700-710.
[47]
Ho MF, Bongartz T, Liu M,et al. Estrogen, SNP-dependent chemokine expression and selective estrogen receptor modulator regulation[J]. Mol Endocrinol,2016,30(3):382-398.
[48]
St Laurent G, Wahlestedt C, Kapranov P. The landscape of long noncoding RNA classification [J]. Trends Genet,2015,31(5): 239-251.
[49]
Ingle JN, Xie F, Ellis MJ,et al. Genetic polymorphisms in the long noncoding RNA MIR2052HG offer a pharmacogenomic basis for the response of breast cancer patients to aromatase inhibitor therapy [J]. Cancer Res,2016,76(23):7012-7023.
[50]
Fu X, He Y, Wang X,et al. MicroRNA-16 promotes ovarian granulosa cell proliferation and suppresses apoptosis through targeting PDCD4 in polycystic ovarian syndrome [J]. Cell Physiol Biochem,2018,48(2): 670-682.
[51]
Chen Z, Yuan YC, Wang Y,et al. Down-regulation of programmed cell death 4 (PDCD4) is associated with aromatase inhibitor resistance and a poor prognosis in estrogen receptor-positive breast cancer [J]. Breast Cancer Res Treat,2015,152(1): 29-39.
[1] 郏亚平, 曾书娥. 含鳞状细胞癌成分的乳腺化生性癌的超声与病理特征分析[J]. 中华医学超声杂志(电子版), 2023, 20(08): 844-848.
[2] 唐玮, 何融泉, 黄素宁. 深度学习在乳腺癌影像诊疗和预后预测中的应用[J]. 中华乳腺病杂志(电子版), 2023, 17(06): 323-328.
[3] 康夏, 田浩, 钱进, 高源, 缪洪明, 齐晓伟. 骨织素抑制破骨细胞分化改善肿瘤骨转移中骨溶解的机制研究[J]. 中华乳腺病杂志(电子版), 2023, 17(06): 329-339.
[4] 衣晓丽, 胡沙沙, 张彦. HER-2低表达对乳腺癌新辅助治疗疗效及预后的影响[J]. 中华乳腺病杂志(电子版), 2023, 17(06): 340-346.
[5] 施杰, 李云涛, 高海燕. 腋窝淋巴结阳性Luminal A型乳腺癌患者新辅助与辅助化疗的预后及影响因素分析[J]. 中华乳腺病杂志(电子版), 2023, 17(06): 353-361.
[6] 伍秋苑, 陈佩贤, 邓裕华, 何添成, 周丹. 肠道微生物在乳腺癌中的研究进展[J]. 中华乳腺病杂志(电子版), 2023, 17(06): 362-365.
[7] 谭巧, 苏小涵, 侯令密, 黎君彦, 邓世山. 乳腺髓样癌的诊治进展[J]. 中华乳腺病杂志(电子版), 2023, 17(06): 366-368.
[8] 周婉丽, 钱铮, 李喆. 槐耳在乳腺癌免疫治疗中的研究进展[J]. 中华乳腺病杂志(电子版), 2023, 17(06): 369-371.
[9] 熊倩, 罗凤. 乳腺癌患者术后康复现状与对策的研究进展[J]. 中华乳腺病杂志(电子版), 2023, 17(06): 372-374.
[10] 杨小菁, 姜瑞瑞, 石玉香, 王静静, 李长天. 乳腺孤立性纤维性肿瘤一例[J]. 中华乳腺病杂志(电子版), 2023, 17(06): 375-377.
[11] 冯雪园, 韩萌萌, 马宁. 乳腺原发上皮样血管内皮瘤一例[J]. 中华乳腺病杂志(电子版), 2023, 17(06): 378-380.
[12] 袁育韬, 邢金琳, 谢克飞, 殷凯. CT征象及BRAFV600E基因突变与甲状腺乳头状癌中央区淋巴结转移的相关性[J]. 中华普外科手术学杂志(电子版), 2023, 17(06): 611-614.
[13] 许丁伟, 马江云, 李新成, 黄洁. Alagille综合征疑诊为先天性胆道闭锁一例并文献复习[J]. 中华肝脏外科手术学电子杂志, 2023, 12(06): 681-687.
[14] 陈安, 冯娟, 杨振宇, 杜锡林, 柏强善, 阴继凯, 臧莉, 鲁建国. 基于生物信息学分析CCN4在肝细胞癌中表达及其临床意义[J]. 中华肝脏外科手术学电子杂志, 2023, 12(06): 702-707.
[15] 王飞飞, 王光林, 孟泽松, 李保坤, 曹龙飞, 张娟, 周超熙, 丁源一, 王贵英. 敲低IMPDH1对结肠癌SW480、HT29细胞生物功能的影响[J]. 中华临床医师杂志(电子版), 2023, 17(08): 884-890.
阅读次数
全文


摘要