| [1] |
Cancer Genome Atlas Network. Comprehensive molecular portraits of human breast tumours [J]. Nature,2012,490(7418):61-70.
|
| [2] |
Coates AS, Winer EP, Goldhirsch A, et al. Tailoring therapies--improving the management of early breast cancer: St Gallen International Expert Consensus on the Primary Therapy of Early Breast Cancer 2015 [J]. Ann Oncol,2015,26(8):1533-1546.
|
| [3] |
Early Breast Cancer Triallists' Collaborative Group (EBCTCG). Effects of chemotherapy and hormonal therapy for early breast cancer on recurrence and 15-year survival: an overview of the randomised trials[J]. Lancet,2005,365(9472):1687-1717.
|
| [4] |
徐兵河. 2013 年最重要的乳腺癌研究进展[J/CD]. 中华乳腺病杂志(电子版),2014,8(1):1-5.
|
| [5] |
王佳玉, 徐兵河. 2014 年美国临床肿瘤学会年会报道:乳腺癌内科治疗最新进展[J/CD]. 中华乳腺病杂志(电子版), 2014, 8(4):1-4.
|
| [6] |
Clarke R, Tyson JJ, Dixon JM, et al. Endocrine resistance in breast cancer: An overview and update[J]. Mol Cell Endocrinol, 2015, 418 Pt 3:220-234.
|
| [7] |
Zhao M, Ramaswamy B. Mechanisms and therapeutic advances in the management of endocrine-resistant breast cancer[J]. World J Clin Oncol,2014,5(3):248-262.
|
| [8] |
Nardone A, De Angelis C,Trivedi MV,et al. The changing role of ER in endocrine resistance [J]. Breast,2015,24 Suppl 2: S60-66.
|
| [9] |
Barone I, Brusco L, Fuqua SA, et al. Estrogen receptor mutations and changes in downstream gene expression and signaling [J]. Clin Cancer Res,2010,16(10):2702-2708.
|
| [10] |
Moelans CB, Monsuur HN, de Pinth JH, et al. ESR1 amplification is rare in breast cancer and is associated with high grade and high proliferation: a multiplex ligation-dependent probe amplification study[J]. Cell Oncol(Dordr),2011,34(5):489-494.
|
| [11] |
Veeraraghavan J, Tan Y, Cao XX, et al. Recurrent ESR1-CCDC170 rearrangements in an aggressive subset of oestrogen receptor-positive breast cancers[J]. Nat Commun,2014,5:4577.
|
| [12] |
Fuqua SA, Wiltschke C, Zhang QX, et al. A hypersensitive estrogen receptor-alpha mutation in premalignant breast lesions [J]. Cancer Res,2000,60(15):4026-4029.
|
| [13] |
Barone I,Cui Y,Herynk MH,et al. Expression of the K303R estrogen receptor-alpha breast cancer mutation induces resistance to an aromatase inhibitor via addiction to the PI3K/Akt kinase pathway[J]. Cancer Res,2009,69(11):4724-4732.
|
| [14] |
Barone I, Iacopetta D, Covington KR, et al. Phosphorylation of the mutant K303R estrogen receptor alpha at serine 305 affects aromatase inhibitor sensitivity[J]. Oncogene,2010,29(16):2404-2414.
|
| [15] |
Giordano C, Cui Y, Barone I, et al. Growth factor-induced resistance to tamoxifen is associated with a mutation of estrogen receptor alpha and its phosphorylation at serine 305[J]. Breast Cancer Res Treat, 2010,119(1):71-85.
|
| [16] |
Cui Y,Zhang M,Pestell R,et al. Phosphorylation of estrogen receptor alpha blocks its acetylation and regulates estrogen sensitivity [J].Cancer Res,2004,64(24):9199-9208.
|
| [17] |
Herynk MH, Hopp T, Cui Y, et al. A hypersensitive estrogen receptor alpha mutation that alters dynamic protein interactions[J]. Breast Cancer Res Treat,2010,122(2):381-393.
|
| [18] |
Fuqua SA,Gu G,Rechoum Y. Estrogen receptor (ER) α mutations in breast cancer: hidden in plain sight [J]. Breast Cancer Res Treat,2014,144(1):11-19.
|
| [19] |
Segal CV, Dowsett M. Estrogen receptor mutations in breast cancer--new focus on an old target[J]. Clin Cancer Res, 2014, 20(7):1724-1726.
|
| [20] |
Fanning SW, Mayne CG, Dharmaraian V, et al. Estrogen receptor alpha somatic mutations Y537S and D538G confer breast cancer endocrine resistance by stabilizing the activating function-2 binding conformation [J]. Elife,2016,5: e12792.
|
| [21] |
Alluri PG, Speers C, Chinnaiyan AM. Estrogen receptor mutations and their role in breast cancer progression [J]. Breast Cancer Res, 2014,16(6):494.
|
| [22] |
Zhang QX, Borg A, Wolf DM, et al. An estrogen receptor mutant with strong hormone-independent activity from a metastatic breast cancer[J]. Cancer Res,1997,57(7):1244-1249.
|
| [23] |
Toy W, Shen Y,Won H,et al. ESR1 ligand-binding domain mutations in hormone-resistant breast cancer [J]. Nat Genet, 2013, 45(12):1439-1445.
|
| [24] |
Robinson DR, Wu YM, Vats P, et al. Activating ESR1 mutations in hormone-resistant metastatic breast cancer [J]. Nat Genet, 2013,45(12):1446-1451.
|
| [25] |
Li S,Shen D,Shao J,et al. Endocrine-therapy-resistant ESR1 variants revealed by genomic characterization of breast-cancer-derived xenografts[J]. Cell Rep,2013,4(6):1116-1130.
|
| [26] |
Jeselsohn R, Yelensky R, Buchwalter G, et al. Emergence of constitutively active estrogen receptor-alpha mutations in pretreated advanced estrogen receptor-positive breast cancer[J]. Clin Cancer Res,2014,20(7):1757-1767.
|
| [27] |
Merenbakh-Lamin K, Ben-Baruch N, Yeheskel A, et al. D538G mutation in estrogen receptor-α: A novel mechanism for acquired endocrine resistance in breast cancer[J]. Cancer Res,2013,73(23):6856-6864.
|
| [28] |
Jeselsohn R, Buchwalter G, De Angelis C, et al. ESR1 mutations—a mechanism for acquired endocrine resistance in breast cancer[J]. Nat Rev Clin Oncol,2015,12(10):573-583.
|
| [29] |
Thomas C, Gustafsson JA. Estrogen receptor mutations and functional consequences for breast cancer [J]. Trends Endocrinol Metab, 2015,26(9):467-476.
|
| [30] |
Nettles KW, Bruning JB, Gil G, et al. NFkappaB selectivity of estrogen receptor ligands revealed by comparative crystallographic analyses[J]. Nat Chem Biol,2008,4(4):241-247.
|
| [31] |
Fuqua SA, Gu G, Rechoum Y, et al. The Y537S ESR1 mutation is a dominant driver of distant ER-positive breast cancer metastasis[EB/OL]. [2016-10-13]. http:/ /cancerres. aacrjournals. org/content/77/4_Supplement/S4-02.
|
| [32] |
Meyerson M, Gabriel S, Getz G. Advances in understanding cancer genomes through second-generation sequencing [J]. Nat Rev Genet,2010,11(10):685-696.
|
| [33] |
Kinde I, Wu J, Papadopoulos N, et al. Detection and quantification of rare mutations with massively parallel sequencing[J]. Proc Natl Acad Sci U S A,2011,108(23):9530-9535.
|
| [34] |
Schmitt MW, Kennedy SR, Salk JJ, et al. Detection of ultra-rare mutations by next-generation sequencing [J]. Proc Natl Acad Sci U S A,2012,109(36):14 508-14 513.
|
| [35] |
Sefrioui D, Perdrix A, Sarafan-Vasseur N, et al. Short report:Monitoring ESR1 mutations by circulating tumor DNA in aromatase inhibitor resistant metastatic breast cancer [J]. Int J Cancer, 2015,137(10):2513-2519.
|
| [36] |
Gu G, Fuqua SA. ESR1 mutations in breast cancer: proof-of-concept challenges clinical action [J]. Clin Cancer Res, 2016, 22 (5):1034-1036.
|
| [37] |
Schadt EE, Turner S, Kasarskis A. A window into third-generation sequencing [J]. Hum Mol Genet,2010,19(R2):R227-240.
|
| [38] |
Diaz LA Jr, Bardelli A. Liquid biopsies: genotyping circulating tumor DNA [J]. J Clin Oncol,2014,32(6):579-586.
|
| [39] |
Newman AM, Bratman SV, To J, et al. An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage [J].Nat Med,2014,20(5):548-554.
|
| [40] |
Chu D, Paoletti C, Gersch C, et al. ESR1 mutations in circulating plasma tumor DNA from metastatic breast cancer patients [J]. Clin Cancer Res,2016,22(4):993-999.
|
| [41] |
Schiavon G, Hrebien S, Garcia-Murillas I, et al. Analysis of ESR1 mutation in circulating tumor DNA demonstrates evolution during therapy for metastatic breast cancer [J]. Sci Transl Med, 2015,7(313):313ra182.
|
| [42] |
Takeshita T,Yamamoto Y,Yamamoto-Ibusuki M,et al. Droplet digital polymerase chain reaction assay for screening of ESR1 mutations in 325 breast cancer specimens [J]. Transl Res,2015,166(6):540-553.
|
| [43] |
Chandarlapaty S,Chen D,He W, et al. Prevalence of ESR1 mutations in cell-free DNA and outcomes in metastatic breast cancer: a secondary analysis of the BOLERO-2 clinical trial [J]. JAMA Oncol, 2016,2(10):1310-1315.
|
| [44] |
Spoerke JM, Gendreau S, Walter K, et al. Heterogeneity and clinical significance of ESR1 mutations in ER-positive metastatic breast cancer patients receiving fulvestrant[J]. Nat Commun,2016,7:11579.
|
| [45] |
Fribbens C, O'Leary B, Kilburn L, et al. Plasma ESR1 mutations and the treatment of estrogen receptor-positive advanced breast cancer [J].J Clin Oncol,2016,34(25):2961-2968.
|
| [46] |
Gyanchandani R,Kota KJ,Jonnalagadda AR,et al. Detection of ESR1 mutations in circulating cell-free DNA from patients with metastatic breast cancer treated with palbociclib and letrozole[J]. Oncotarget,2016. doi:10.18632/oncotarget.11383.
|
| [47] |
Ingle JN, Suman VJ, Rowland KM, et al. Fulvestrant in women with advanced breast cancer after progression on prior aromatase inhibitor therapy: North Central Cancer Treatment Group Trial N0032[J]. J Clin Oncol,2006,24(7):1052-1056.
|
| [48] |
Di Leo A, Jerusalem G, Petruzelka L, et al. Results of the CONFIRM phase Ⅲtrial comparing fulvestrant 250 mg with fulvestrant 500 mg in postmenopausal women with estrogen receptor-positive advanced breast cancer [J]. J Clin Oncol,2010,28(30):4594-4600.
|
| [49] |
Lai A, Kahraman M, Govek S, et al. Identification of GDC-0810(ARN-810), an orally bioavailable selective estrogen receptor degrader(SERD) that demonstrates robust activity in tamoxifen-resistant breast cancer xenografts[J]. J Med Chem,2015,58(12):4888-4904.
|
| [50] |
Joseph JD,Darimont B,Zhou W,et al. The selective estrogen receptor downregulator GDC-0810 is efficacious in diverse models of ER+ breast cancer[J]. Elife,2016,5:e15828.
|
| [51] |
Weir HM,Bradbury RH,Lawson M,et al. AZD9496:an oral estrogen receptor inhibitor that blocks the growth of ER-positive and ESR1-mutant breast tumors in preclinical models[J]. Cancer Res, 2016,76(11):3307-3318.
|
| [52] |
Wardell SE, Nelson ER, Chao CA, et al. Evaluation of the pharmacological activities of RAD1901, a selective estrogen receptor degrader[J]. Endocr Relat Cancer,2015,22(5):713-724.
|
| [53] |
Garner F, Shomali M, Paguin D, et al. RAD1901: a novel, orally bioavailable selective estrogen receptor degrader that demonstrates antitumor activity in breast cancer xenograft models[J]. Anticancer Drugs,2015,26(9):948-956.
|
| [54] |
Ladd B, Mazzola AM, Bihani T, et al. Effective combination therapies in preclinical endocrine resistant breast cancer models harboring ER mutations[J]. Oncotarget,2016,7(34):54 120-54 136.
|
| [55] |
Yu M, Bardia A, Aceto N, et al. Cancer therapy. Ex vivo culture of circulating breast tumor cells for individualized testing of drug susceptibility [J]. Science,2014,345(6193):216-220.
|