| [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.
|
| [2] |
Antoniou AC, Pharoah PD, McMullan G, et al. A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes[J]. Br J Cancer, 2002, 86 (1): 76-83.
|
| [3] |
Peto J, Collins N, Barfoot R, et al. Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer[J]. J Natl Cancer Inst，1999, 91 (11): 943-949.
|
| [4] |
Antoniou AC, Gayther SA, Stratton JF, et al. Risk models for familial ovarian and breast cancer[J]. Genet Epidemiol，2000, 18 (2): 173-190.
|
| [5] |
Anglian Breast Cancer Study Group. Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group[J]. Br J Cancer, 2000, 83 (10): 1301-1308.
|
| [6] |
Whittemore AS, Gong G, John EM, et al. Prevalence of BRCA1 mutation carriers among U．S. non-Hispanic whites[J]. Cancer Epidemiol Biomarkers Prev，2004, 13 (12): 2078-2083.
|
| [7] |
Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies[J]. Am J Hum Genet，2003, 72 (5): 1117-1130.
|
| [8] |
Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance[J]. J Clin Oncol，2007, 25 (11): 1329-1333.
|
| [9] |
Fentiman IS. Prophylactic mastectomy: deliverance or delusion? We don’t know, so we need to start registering all cases now[J]. BMJ，1998, 317 (7170): 1402-1403.
|
| [10] |
Metcalfe KA, Retrouvey H, Kerrebijn I, et al. Predictors of uptake of contralateral prophylactic mastectomy in women with nonhereditary breast cancer[J]. Cancer，2019, 125 (22): 3966-3973.
|
| [11] |
Jatoi I, Kemp Z. Risk-reducing mastectomy[J]. JAMA，2021, 325 (17): 1781-1782.
|
| [12] |
Colwell AS, Christensen JM. Nipple-sparing mastectomy and direct-to-implant breast reconstruction[J]. Plast Reconstr Surg, 2017, 140(5S): 44s-50s.
|
| [13] |
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.
|
| [14] |
Wilkins EG, Hamill JB, Kim HM, et al. Complications in postmastectomy breast reconstruction: one-year outcomes of the Mastectomy Reconstruction Outcomes Consortium (MROC) study[J]. Ann Surg，2018, 267 (1): 164-170.
|
| [15] |
Saint-Cyr M, Youssef A, Bae HW, et al. Changing trends in recipient vessel selection for microvascular autologous breast reconstruction: an analysis of 1 483 consecutive cases[J]. Plast Reconstr Surg，2007, 119 (7): 1993-2000.
|
| [16] |
Metcalfe KA, Cil TD, Semple JL, et al. Long-term psychosocial functioning in women with bilateral prophylactic mastectomy: does preservation of the nipple-areolar complex make a difference？[J]. Ann Surg Oncol，2015, 22 (10): 3324-3330.
|
| [17] |
Didier F, Radice D, Gandini S, et al.Does nipple preservation in mastectomy improve satisfaction with cosmetic results, psychological adjustment, body image and sexuality？[J]. Breast Cancer Res Treat，2009, 118 (3): 623-633.
|
| [18] |
Hartmann LC, Schaid DJ, Woods JE, et al. Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer[J]. N Engl J Med，1999, 340 (2): 77-84.
|
| [19] |
Kaas R, Verhoef S, Wesseling J, et al. Prophylactic mastectomy in BRCA1 and BRCA2 mutation carriers: very low risk for subsequent breast cancer[J]. Ann Surg，2010, 251 (3): 488-492.
|
| [20] |
Carbine NE, Lostumbo L, Wallace J, et al. Risk-reducing mastectomy for the prevention of primary breast cancer[J]. Cochrane Database Syst Rev，2018, 4 (4): CD002748.
|
| [21] |
Ingham SL, Sperrin M, Baildam A, et al. Risk-reducing surgery increases survival in BRCA1/2 mutation carriers unaffected at time of family referral[J]. Breast Cancer Res Treat, 2013, 142(3): 611-618.
|
| [22] |
Hartmann LC, Sellers TA, Schaid DJ, et al. Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers[J]. J Natl Cancer Inst，2001, 93 (21): 1633-1637.
|
| [23] |
Meijers-Heijboer H, Van Geel B, Van Putten WL, et al. Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation[J]. N Engl J Med，2001, 345 (3): 159-164.
|
| [24] |
Rebbeck TR, Friebel T, Lynch HT, et al.Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group[J]. J Clin Oncol，2004, 22 (6): 1055-1062.
|
| [25] |
Arver B, Isaksson K, Atterhem H, et al. Bilateral prophylactic mastectomy in Swedish women at high risk of breast cancer: a national survey[J]. Ann Surg, 2011, 253(6): 1147-1154.
|
| [26] |
Roukos DH, Briasoulis E. Individualized preventive and therapeutic management of hereditary breast ovarian cancer syndrome[J]. Nat Clin Pract Oncol，2007, 4 (10): 578-590.
|
| [27] |
Herrinton LJ, Barlow WE, Yu O, et al. Efficacy of prophylactic mastectomy in women with unilateral breast cancer: a cancer research network project[J]. J Clin Oncol，2005, 23 (19): 4275-4286.
|
| [28] |
Boughey JC, Hoskin TL, Degnim AC, et al. Contralateral prophylactic mastectomy is associated with a survival advantage in high-risk women with a personal history of breast cancer[J]. Ann Surg Oncol，2010, 17 (10): 2702-2709.
|
| [29] |
Evans DG, Ingham SL, Baildam A, et al. Contralateral mastectomy improves survival in women with BRCA1/2-associated breast cancer[J]. Breast Cancer Res Treat，2013, 140 (1): 135-142.
|
| [30] |
Metcalfe K, Gershman S, Ghadirian P, et al. Contralateral mastectomy and survival after breast cancer in carriers of BRCA1 and BRCA2 mutations: retrospective analysis[J]. BMJ，2014, 348: g226.
|
| [31] |
Van Sprundel TC, Schmidt MK, Rookus MA, et al. Risk reduction of contralateral breast cancer and survival after contralateral prophylactic mastectomy in BRCA1 or BRCA2 mutation carriers[J].Br J Cancer，2005, 93 (3): 287-292.
|
| [32] |
Kiely BE, Jenkins MA, Mckinley JM, et al.Contralateral risk-reducing mastectomy in BRCA1 and BRCA2 mutation carriers and other high-risk women in the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab)[J]. Breast Cancer Res Treat，2010, 120 (3): 715-723.
|
| [33] |
Chung A, Huynh K, Lawrence C, et al. Comparison of patient characteristics and outcomes of contralateral prophylactic mastectomy and unilateral total mastectomy in breast cancer patients[J]. Ann Surg Oncol，2012, 19 (8): 2600-2606.
|
| [34] |
Boughey JC, Attai DJ, Chen SL, et al. Contralateral prophylactic mastectomy (CPM) consensus statement from the American Society of Breast Surgeons: data on CPM outcomes and risks[J]. Ann Surg Oncol，2016, 23 (10): 3100-3105.
|
| [35] |
Heemskerk-Gerritsen BA, Rookus MA, Aalfs CM, et al. Improved overall survival after contralateral risk-reducing mastectomy in BRCA1/2 mutation carriers with a history of unilateral breast cancer: a prospective analysis[J]. Int J Cancer，2015, 136 (3): 668-677.
|
| [36] |
Endogenous Hormones and Breast Cancer Collaborative Group, Key TJ, Appleby PN, et al. Circulating sex hormones and breast cancer risk factors in postmenopausal women: reanalysis of 13 studies[J]. Br J Cancer，2011, 105 (5): 709-722.
|
| [37] |
Endogenous Hormones and Breast Cancer Collaborative Group, Key TJ, Appleby PN, et al. Sex hormones and risk of breast cancer in premenopausal women: a collaborative reanalysis of individual participant data from seven prospective studies[J]. Lancet Oncol，2013, 14 (10): 1009-1019.
|
| [38] |
Eleje GU, Eke AC, Ezebialu IU, et al. Risk-reducing bilateral salpingo-oophorectomy in women with BRCA1 or BRCA2 mutations[J]. Cochrane Database Syst Rev，2018, 8 (8): Cd012 464.
|
| [39] |
Mavaddat N, Peock S, Frost D, et al. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE[J]. J Natl Cancer Inst，2013, 105 (11): 812-822.
|
| [40] |
Solsky I, Chen J, Rebbeck TR. Precision prophylaxis: identifying the optimal timing for risk-reducing salpingo-oophorectomy based on type of BRCA1 and BRCA2 cluster region mutations[J].Gynecol Oncol，2020, 156 (2): 363-376.
|
| [41] |
Gaba F, Manchanda R. Systematic review of acceptability, cardiovascular, neurological, bone health and HRT outcomes following risk reducing surgery in BRCA carriers[J]. Best Pract Res Clin Obstet Gynaecol，2020, 65: 46-65.
|
| [42] |
Kotsopoulos J, Hall E, Finch A, et al. Changes in bone mineral density after prophylactic bilateral salpingo-oophorectomy in carriers of a BRCA mutation[J]. JAMA Netw Open，2019, 2 (8): e198420.
|
| [43] |
Rebbeck TR, Lynch HT, Neuhausen SL, et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations[J]. N Engl J Med，2002, 346 (21): 1616-1622.
|
| [44] |
Kauff ND, Satagopan JM, Robson ME, et al. Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation[J]. N Engl J Med，2002, 346 (21): 1609-1615.
|
| [45] |
Choi YH, Terry MB, Daly MB, et al. Association of risk-reducing salpingo-oophorectomy with breast cancer risk in women with BRCA1 and BRCA2 pathogenic variants[J]. JAMA Oncol，2021, 7(4):585-595.
|
| [46] |
Chen Z, Kolor K, Grosse SD, et al. Trends in utilization and costs of BRCA testing among women aged 18-64 years in the United States, 2003－2014[J].Genet Med，2018, 20 (4): 428-434.
|
| [47] |
Basu NN, Hodson J, Chatterjee S, et al. The angelina jolie effect: contralateral risk-reducing mastectomy trends in patients at increased risk of breast cancer[J]. Sci Rep，2021, 11 (1): 2847.
|
| [48] |
Liede A, Cai M, Crouter TF, et al. Risk-reducing mastectomy rates in the US: a closer examination of the Angelina Jolie effect[J]. Breast Cancer Res Treat，2018, 171 (2): 435-442.
|
| [49] |
Gill J, Obley AJ, Prasad V. Direct-to-consumer genetic testing: the implications of the US FDA’s first marketing authorization for BRCA mutation testing[J]. JAMA，2018, 319 (23): 2377-2378.
|
| [50] |
李恒宇，盛湲. 遗传性乳腺癌基因检测的10个热点[J].外科理论与实践，2019, 24 (5): 406-411.
|