-
-
[1] Sung H, Ferlay J, Siegel RL, et al. Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries[J]. CA Cancer J Clin, 2021, 71(3):209-249. doi: 10.3322/caac.21660 [2] Breast Cancer Association C, Dorling L, Carvalho S, et al. Breast cancer risk genes-association analysis in more than 113, 000 women[J]. N Engl J Med, 2021, 384(5):428-439. doi: 10.1056/NEJMoa1913948 [3] Sun J, Meng H, Yao L, et al. Germline mutations in cancer susceptibility genes in a large series of unselected breast cancer patients[J]. Clin Cancer Res, 2017, 23(20):6113-6119. doi: 10.1158/1078-0432.CCR-16-3227 [4] Li G, Guo X, Tang L, et al. Analysis of BRCA1/2 mutation spectrum and prevalence in unselected Chinese breast cancer patients by next-generation sequencing[J]. J Cancer Res Clin Oncol, 2017, 143(10):2011-2024. doi: 10.1007/s00432-017-2465-8 [5] Deng M, Chen HH, Zhu X, et al. Prevalence and clinical outcomes of germline mutations in BRCA1/2 and PALB2 genes in 2 769 unselected breast cancer patients in China[J]. Int J Cancer, 2019, 145(6):1517-1528. doi: 10.1002/ijc.32184 [6] Su L, Xu Y, Ouyang T, et al. Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers in a large cohort of unselected Chinese breast cancer patients[J]. Int J Cancer, 2020, 146(12):3335-3342. doi: 10.1002/ijc.32918 [7] Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers[J]. JAMA, 2017, 317(23):2402-2416. doi: 10.1001/jama.2017.7112 [8] 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):441-445. doi: 10.1007/s10549-016-3766-3 [9] Su L, Zhang J, Meng H, et al. Prevalence of BRCA1/2 large genomic rearrangements in Chinese women with sporadic triple-negative or familial breast cancer[J]. Clin Genet, 2018, 94(1):165-169. doi: 10.1111/cge.13256 [10] Pierce LJ, Levin AM, Rebbeck TR, et al. Ten-year multi-institutional results of breast-conserving surgery and radiotherapy in BRCA1/2-associated stage Ⅰ/Ⅱ breast cancer[J]. J Clin Oncol, 2006, 24(16):2437-2443. doi: 10.1200/JCO.2005.02.7888 [11] Cao W, Xie Y, He Y, et al. Risk of ipsilateral breast tumor recurrence in primary invasive breast cancer following breast-conserving surgery with BRCA1 and BRCA2 mutation in China[J]. Breast Cancer Res Treat, 2019, 175(3):749-754. doi: 10.1007/s10549-019-05199-8 [12] van den Broek AJ, Schmidt MK, van 't Veer LJ, et al. Prognostic impact of breast-conserving therapy versus mastectomy of BRCA1/2 mutation carriers compared with noncarriers in a consecutive series of young breast cancer patients[J]. Ann Surg, 2019, 270(2):364-372. doi: 10.1097/SLA.0000000000002804 [13] Wan Q, Su L, Ouyang T, et al. Comparison of survival after breast-conserving therapy vs mastectomy among patients with or without the BRCA1/2 variant in a large series of unselected chinese patients with breast cancer[J]. JAMA Netw Open, 2021, 4(4):e216259. doi: 10.1001/jamanetworkopen.2021.6259 [14] Schmidt MK, van den Broek AJ, Tollenaar RA, et al. Breast cancer survival of BRCA1/BRCA2 mutation carriers in a hospital-based cohort of young women[J]. J Natl Cancer Inst, 2017, 109(8):329. [15] Wang C, Zhang J, Wang Y, et al. Prevalence of BRCA1 mutations and responses to neoadjuvant chemotherapy among BRCA1 carriers and non-carriers with triple-negative breast cancer[J]. Ann Oncol, 2015, 26(3):523-528. doi: 10.1093/annonc/mdu559 [16] Zhang J, Yao L, Liu Y, et al. Impact of the addition of carboplatin to anthracycline-taxane-based neoadjuvant chemotherapy on survival in BRCA1/2-mutated triple-negative breast cancer[J]. Int J Cancer, 2021, 148(4):941-949. doi: 10.1002/ijc.33234 [17] Curtin NJ, Szabo C. Poly(ADP-ribose) polymerase inhibition: past, present and future[J]. Nat Rev Drug Discov, 2020, 19(10):711-736. doi: 10.1038/s41573-020-0076-6 [18] Tutt ANJ, Garber JE, Kaufman B, et al. Adjuvant olaparib for patients with BRCA1- or BRCA2-mutated breast cancer[J]. N Engl J Med, 2021, 384(25):2394-2405. doi: 10.1056/NEJMoa2105215 [19] Buist DS, Porter PL, Lehman C, et al. Factors contributing to mammography failure in women aged 40-49 years[J]. J Natl Cancer Inst, 2004, 96(19):1432-1440. [20] Shen S, Zhou Y, Xu Y, et al. A multi-centre randomised trial comparing ultrasound vs mammography for screening breast cancer in high-risk Chinese women[J]. Br J Cancer, 2015, 112(6):998-1004. doi: 10.1038/bjc.2015.33 [21] King MC, Wieand S, Hale K, et al. Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National surgical adjuvant breast and bowel project (NSABP-P1) breast cancer prevention trial[J]. JAMA, 2001, 286(18):2251-2256. doi: 10.1001/jama.286.18.2251 [22] Heemskerk-Gerritsen BAM, Jager A, Koppert LB, et al. Survival after bilateral risk-reducing mastectomy in healthy BRCA1 and BRCA2 mutation carriers[J]. Breast Cancer Res Treat, 2019, 177(3):723-733. doi: 10.1007/s10549-019-05345-2 [23] Jakub JW, Peled AW, Gray RJ, et al. Oncologic safety of prophylactic nipple-sparing mastectomy in a population with BRCA mutations: a multi-institutional study[J]. JAMA Surg, 2018, 153(2):123-129. doi: 10.1001/jamasurg.2017.3422 [24] 张冬洁,付芬芬,谢凌铎,等.BRCA1/2突变的中国健康女性乳腺预防性切除及Ⅰ期重建的临床实践[J].中国肿瘤临床,2020,47(1):34-38. doi: 10.3969/j.issn.1000-8179.2020.01.429 [25] Zhang L, Shin VY, Chai X, et al. Breast and ovarian cancer penetrance of BRCA1/2 mutations among Hong Kong women[J]. Oncotarget, 2018, 9(38):25025-25033. doi: 10.18632/oncotarget.24382 [26] Tai YC, Domchek S, Parmigiani G, et al. Breast cancer risk among male BRCA1 and BRCA2 mutation carriers[J]. J Natl Cancer Inst, 2007, 99(23):1811-1814. doi: 10.1093/jnci/djm203 [27] Sheng S, Xu Y, Guo Y, et al. Prevalence and clinical impact of TP53 germline mutations in Chinese women with breast cancer[J]. Int J Cancer, 2020, 146(2):487-495. doi: 10.1002/ijc.32424 [28] Antoniou AC, Casadei S, Heikkinen T, et al. Breast-cancer risk in families with mutations in PALB2[J]. N Engl J Med, 2014, 371(6):497-506. doi: 10.1056/NEJMoa1400382 [29] Wu Y, Ouyang T, Li J, et al. Spectrum and clinical relevance of PALB2 germline mutations in 7657 Chinese BRCA1/2-negative breast cancer patients[J]. Breast Cancer Res Treat, 2020, 179(3):605-614. doi: 10.1007/s10549-019-05483-7 [30] Zhou J, Wang H, Fu F, et al. Spectrum of PALB2 germline mutations and characteristics of PALB2-related breast cancer: Screening of 16, 501 unselected patients with breast cancer and 5890 controls by next-generation sequencing[J]. Cancer, 2020, 126(14):3202-3208. doi: 10.1002/cncr.32905
点击查看大图
计量
- 文章访问数: 1009
- HTML全文浏览量: 122
- PDF下载量: 582
- 被引次数: 0