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摘要:
乳腺癌是女性最常见的恶性肿瘤，BRCA1/BRCA2是乳腺癌重要的易感基因，与遗传性乳腺癌的发生密切相关，目前BRCA基因突变型乳腺癌的靶向药物治疗是研究的热点。本文主要介绍BRCA基因在乳腺癌中的发生发展关系，并对其相关靶向治疗作一综述。
Abstract:Breast cancer is the most common cancer in female malignant tumors. BRCA1 and BRCA2 are the important susceptibility genes, and have a close relationship with the incidence of breast cancer. Currently, the targeted drugs of breast cancer with BRCA mutations become a research hotspot. This article is to sum up the connection between BRCA genes and breast cancer, and review on related targeted therapy methods.
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Key words:
- Breast cancer /
- BRCA1 /
- BRCA2 /
- Targeted therapy
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[1] Chen W, Zheng R, Baade PD, et al.Cancer statistics in China, 2015[J].CA Cancer J Clin, 2016, 66(2): 115-32. doi: 10.3322/caac.21338
[2] Hall JM, Lee MK, Newman B, et al.Linkage of early-onset familial breast cancer to chromosome 17q21[J].Science, 1990, 250(4988): 1684-9. doi: 10.1126/science.2270482
[3] Wooster R, Neuhausen SL, Mangion J, et al.Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13[J].Science, 1994, 265(5181): 2088-90. doi: 10.1126/science.8091231
[4] Bougie O, Weberpals JI.Clinical Considerations of BRCA1-and BRCA2-Mutation Carriers: A Review[J].Int J Surg Oncol, 2011, 2011: 374012. https://www.researchgate.net/publication/221812831_Clinical_considerations_of_BRCA1-_and_BRCA2-mutation_carriers_A_review
[5] Yao L, Sun J, Zhang J, et al.Breast cancer risk in Chinese women with BRCA1 or BRCA2 mutations[J].Breast Cancer Res Treat, 2016, 156(3): 441-5. doi: 10.1007/s10549-016-3766-3
[6] Molina-Montes E, Perez-Nevot B, Pollan M, et al.Cumulative risk of second primary contralateral breast cancer in BRCA1/BRCA2 mutation carriers with a first breast cancer: A systematic review and meta-analysis[J].Breast, 2014, 23(6): 721-42. doi: 10.1016/j.breast.2014.10.005
[7] Begg CB, Haile RW, Borg A, et al.Variation of breast cancer risk among BRCA1/2 carriers[J].JAMA, 2008, 299(2): 194-201. http://d.scholar.cnki.net/detail/SJPD0711_U/SJPD12102102307704
[8] Shao J, Yang J, Wang JN, et al.Effect of BRCA2 mutation on familial breast cancer survival: A systematic review and meta-analysis[J].J Huazhong Univ Sci Technolog Med Sci, 2015, 35(5): 629-34. doi: 10.1007/s11596-015-1481-7
[9] Daly MB, Pilarski R, Axilbund JE, et al.Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2015[J].J Natl Compr Canc Netw, 2016, 14(2): 153-62. http://paper.medlive.cn/literature/1648533
[10] Bougie O, Weberpals JI.Clinical Considerations of BRCA1-and BRCA2-Mutation Carriers: A Review[J].Int J Surg Oncol, 2011, 2011: 374012. https://www.researchgate.net/publication/221812831_Clinical_considerations_of_BRCA1-_and_BRCA2-mutation_carriers_A_review
[11] Li X, You R, Wang X, et al.Effectiveness of prophylactic surgeries in BRCA1 or BRCA2 mutation carriers: a meta-analysis and systematic review[J].Clin Cancer Res, 2016, 22(15): 3971-81. doi: 10.1158/1078-0432.CCR-15-1465
[12] Xu L, Zhao Y, Chen Z, et al.Tamoxifen and risk of contralateral breast cancer among women with inherited mutations in BRCA1 and BRCA2: a meta-analysis[J].Breast Cancer, 2015, 22(4): 327-34. doi: 10.1007/s12282-015-0619-6
[13] Kaufman B, Shapira-Frommer R, Schmutzler RK, et al.Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation[J].J Clin Oncol, 2015, 33(3): 244-50. doi: 10.1200/JCO.2014.56.2728
[14] Helleday T.The underlying mechanism for the PARP and BRCA synthetic lethality: clearing up the misunderstandings[J].Mol Oncol, 2011, 5(4): 387-93. doi: 10.1016/j.molonc.2011.07.001
[15] Kaufman B, Shapira-Frommer R, Schmutzler RK, et al.Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation[J].J Clin Oncol, 2015, 33(3): 244-50. doi: 10.1200/JCO.2014.56.2728
[16] Ledermann J, Harter P, Gourley C, et al.Olaparib maintenance therapy in patients with platinum-sensitive relapsed serous ovarian cancer: a preplanned retrospective analysis of outcomes by BRCA status in a randomised phase 2 trial[J].Lancet Oncol, 2014, 15(8): 852-61. doi: 10.1016/S1470-2045(14)70228-1
[17] Drew Y, Ledermann J, Hall G, et al.Phase 2 multicentre trial investigating intermittent and continuous dosing schedules of the poly (ADP-ribose) polymerase inhibitor rucaparib in germline BRCA mutation carriers with advanced ovarian and breast cancer[J].Br J Cancer, 2016, 114(7): 723-30. doi: 10.1038/bjc.2016.41
[18] Coleman RL, Sill MW, Bell-Mcguinn K, et al.A phase II evaluation of the potent, highly selective PARP inhibitor veliparib in the treatment of persistent or recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer in patients who carry a germline BRCA1 or BRCA2 mutation-An NRG Oncology/Gynecologic Oncology Group study[J].Gynecol Oncol, 2015, 137(3): 386-91. doi: 10.1016/j.ygyno.2015.03.042
[19] Sandhu SK, Schelman WR, Wilding G, et al.The poly (ADP-ribose) polymerase inhibitor niraparib (MK4827) in BRCA mutation carriers and patients with sporadic cancer: a phase 1 dose-escalation trial[J].Lancet Oncol, 2013, 14(9): 882-92. doi: 10.1016/S1470-2045(13)70240-7
[20] Wang B, Chu D, Feng Y, et al.Discovery and Characterization of (8S, 9R)-5-Fluoro-8-(4-fluorophenyl)-9-(1-methyl-1H-1, 2, 4-triazol-5-yl)-2, 7, 8, 9-tetrahydro-3H-pyrido[4, 3, 2-de]phthalazin-3-one (BMN 673, Talazoparib), a Novel, Highly Potent, and Orally Efficacious Poly (ADP-ribose) Polymerase-1/2 Inhibitor, as an Anticancer Agent[J].J Med Chem, 2016, 59(1): 335-57. doi: 10.1021/acs.jmedchem.5b01498
[21] Albarakati N, Abdel-Fatah TM, Doherty R, et al.Targeting BRCA1-BER deficient breast cancer by ATM or DNA-PKcs blockade either alone or in combination with cisplatin for personalized therapy[J].Mol Oncol, 2015, 9(1): 204-17. doi: 10.1016/j.molonc.2014.08.001
[22] Hawkins PT, Stephens LR.Emerging evidence of signalling roles for PI (3, 4) P2 in Class I and II PI3K-regulated pathways[J].Biochem Soc Trans, 2016, 44(1): 307-14. doi: 10.1042/BST20150248
[23] Kimbung S, Biskup E, Johansson I, et al.Co-targeting of the PI3K pathway improves the response of BRCA1 deficient breast cancer cells to PARP1 inhibition[J].Cancer Lett, 2012, 319(2): 232-41. doi: 10.1016/j.canlet.2012.01.015
[24] De P, Sun Y, Carlson JH, et al.Doubling down on the PI3K-AKT-mTOR pathway enhances the antitumor efficacy of PARP inhibitor in triple negative breast cancer model beyond BRCA-ness[J].Neoplasia, 2014, 16(1): 43-72. doi: 10.1593/neo.131694
[25] Gilardini Montani MS, Prodosmo A, Stagni V, et al.ATM-depletion in breast cancer cells confers sensitivity to PARP inhibition[J].J Exp Clin Cancer Res, 2013, 32: 95. doi: 10.1186/1756-9966-32-95
[26] Mendes-Pereira AM, Martin SA, Brough R, et al.Synthetic lethal targeting of PTEN mutant cells with PARP inhibitors[J].EMBO Mol Med, 2009, 1(6-7): 315-22. doi: 10.1002/emmm.200900041
[27] Kawai H, Li H, Chun P, et al.Direct interaction between BRCA1 and the estrogen receptor regulates vascular endothelial growth factor (VEGF) transcription and secretion in breast cancer cells[J].Oncogene, 2002, 21(50): 7730-9. doi: 10.1038/sj.onc.1205971
[28] Furuta S, Wang JM, Wei S, et al.Removal of BRCA1/CtIP/ZBRK1 repressor complex on ANG1 promoter leads to accelerated mammary tumor growth contributed by prominent vasculature[J].Cancer Cell, 2006, 10(1): 13-24. doi: 10.1016/j.ccr.2006.05.022
[29] Danza K, Pilato B, Lacalamita R, et al.Angiogenetic axis angiopoietins/Tie2 and VEGF in familial breast cancer[J].Eur J Hum Genet, 2013, 21(8): 824-30. doi: 10.1038/ejhg.2012.273
[30] Lim JJ, Yang K, Taylor-Harding B, et al.VEGFR3 inhibition chemosensitizes ovarian cancer stemlike cells through down-regulation of BRCA1 and BRCA2[J].Neoplasia, 2014, 16(4): 343-53. doi: 10.1016/j.neo.2014.04.003
[31] Liu JF, Barry WT, Birrer M, et al.Combination cediranib and olaparib versus olaparib alone for women with recurrent platinum-sensitive ovarian cancer: a randomised phase 2 study[J].Lancet Oncol, 2014, 15(11): 1207-14. doi: 10.1016/S1470-2045(14)70391-2
[32] Roux R, Zweifel M, Rustin GJ.Biologicals in the upfront treatment of ovarian cancer: focus on bevacizumab and poly (adp-ribose) polymerase inhibitors[J].Am Soc Clin Oncol Educ Book, 2012: 340-4. http://meetinglibrary.asco.org/content/116-114
[33] Lin ZP, Ratner ES, Whicker ME, et al.Triapine disrupts CtIP-mediated homologous recombination repair and sensitizes ovarian cancer cells to PARP and topoisomerase inhibitors[J].Mol Cancer Res, 2014, 12(3): 381-93. doi: 10.1158/1541-7786.MCR-13-0480
[34] Xia Q, Cai Y, Peng R, et al.The CDK1 inhibitor RO3306 improves the response of BRCA-pro ficient breast cancer cells to PARP inhibition[J].Int J Oncol, 2014, 44(3): 735-44.
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