Advances of BRCA1, BRCA2 mutation and their clinical applications

Abstract

Li Chen, Huang Yan. Advances of BRCA1, BRCA2 mutation and their clinical applications[J]. Journal of International Oncology, 2015, 42(2): 138-140.

［1］ Siegel R, Naishadham D, Jemal A. Cancer statistics, 2013［J］. CA Cancer J Clin, 2013, 63(1): 11-30. ［2］ Morris JR, Boutell C, Keppler M, et al. The SUMO modification pathway is involved in the BRCA1 response to genotoxic stress［J］. Nature, 2009, 462(7275): 886-890. ［3］ De Siervi A, De Luca P, Byun JS, et al. Transcriptional autoregulation by BRCA1［J］. Cancer Res, 2010, 70(2): 532-542. ［4］ Venkitaraman AR. Cancer suppression by the chromosome custodians, BRCA1 and BRCA2［J］. Science, 2014, 343(6178): 1470-1475. ［5］ Wang F, Fang Q, Ge Z, et al. Common BRCA1 and BRCA2 mutations in breast cancer families: a metaanalysis from systematic review［J］.Mol Biol Rep, 2012, 39(3): 2109-2118. ［6］ Roy R, Chun J, Powell SN. BRCA1 and BRCA2: different roles in a common pathway of genome protection［J］. Nat Rev Cancer, 2012, 12(1): 68-78. ［7］ Konstantopoulou I, Tsitlaidou M, Fostira F, et al. High prevalence of BRCA1 founder mutations in Greek breast/ovarian families［J］. Clin Genet, 2014, 85(1): 36-42. ［8］ Kwong A, Ng EK, Wong CL, et al. Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis［J］. PLoS One, 2012, 7(9): e43994. ［9］ Rao NY, Hu Z, Yu JM, et al. Evaluating the performance of models for predicting the BRCA germline mutations in Han Chinese familial breast cancer patients［J］. Breast Cancer Res Treat, 2009, 116(3): 563-570. ［10］ Zhang J, Pei R, Pang Z, et al. Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer［J］. Breast Cancer Res Treat, 2012, 132(2): 421-428. ［11］ Ou J, Wu T, Sijmons R, et al. Prevalence of BRCA1 and BRCA2 germline mutations in breast cancer women of multiple ethnic region in northwest China［J］. J Breast Cancer, 2013, 16(1): 50-54. ［12］ Hall MJ, Reid JE, Burbidge LA, et al. BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breastovarian cancer［J］. Cancer, 2009, 115(10): 2222-2233. ［13］ Anders CK, Zagar TM, Carey LA. The management of earlystage and metastatic triplenegative breast cancer: a review［J］. Hematol Oncol Clin North Am, 2013, 27(4): 737-749. ［14］ Gradishar WJ, Anderson BO, Blair SL, et al. Breast cancer version 3.2014［J］. J Natl Compr Canc Netw, 2014, 12(4): 542-590. ［15］ Robson ME, Storm CD, Weitzel J, et al. American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility［J］. J Clin Oncol, 2010, 28(5): 893-901. ［16］ Singh K, Lester J, Karlan B, et al. Impact of family history on choosing riskreducing surgery among BRCA mutation carriers［J］. Am J Obstet Gynecol, 2013, 208(4): 329.e1-6. ［17］ Phillips KA, Milne RL, Rookus MA, et al. Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. ［J］. J Clin Oncol, 2013, 31(25): 3091-3099. ［18］ Evans DG, Baildam AD, Anderson E, et al. Risk reducing mastectomy: outcomes in 10 European centres［J］. J Med Genet, 2009, 46(4): 254-258. ［19］ Malone KE, Begg CB, Haile RW, et al. Populationbased study of the risk of second primary contralateral breast cancer associated with carrying a mutation in BRCA1 or BRCA2［J］. J Clin Oncol, 2010, 28(14): 2404-2410. ［20］ Recht A. Contralateral prophylactic mastectomy: caveat emptor［J］. J Clin Oncol, 2009, 27(9): 1347-1349. ［21］ Balmana J, Diez O, Rubio IT, et al. BRCA in breast cancer: ESMO Clinical Practice Guidelines［J］. Ann Oncol, 2011, 22 Suppl 6: vi31-34. ［22］ Byrski T, Gronwald J, Huzarski T, et al. Pathologic complete response rates in young women with BRCA1positive breast cancers after neoadjuvant chemotherapy［J］. J Clin Oncol, 2010, 28(3): 375-379. ［23］ Chalasani P, Livingston R. Differential chemotherapeutic sensitivity for breast tumors with "BRCAness": a review［J］. Oncologist, 2013, 18(8): 909-916. ［24］ Tutt A, Robson M, Garber JE, et al. Oral poly(ADPribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer a proofofconcept trial［J］. Lancet, 2010, 376(9737): 235-244.

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Advances of BRCA1, BRCA2 mutation and their clinical applications

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