Prophylactic surgery in carriers of BRCA1 or BRCA2 gene mutation

T. V Gorodnova; Городнова Татьяна Васильевна; A. P Sokolenko; Соколенко Анна Петровна; Kh. B Kotiv; Котив Христина Богдановна; M. G Yakovleva; Яковлева Мария Георгиевна; O. E Lavrinovich; Лавринович Ольга Евгеньевна; N. A Mikaya; Микая Николай Александрович; Z. N Ibragimov; Ибрагимов Заур Намигович; Yu. N Trifanov; Трифанов Юрий Николаевич; N. E Bondarev; Бондарев Николай Эдуардович; E. A Nekrasova; Некрасова Екатерина Александровна; A. A Sidoruk; Сидорук Анна Александровна; O. A Smirnova; Смирнова Ольга Алексеевна; K. D Guseinov; Гусейнов Константин Джамилиевич; E. V Bakhidze; Бахидзе Елена Вилльевна; I. E Meshkova; Мешкова Ирина Евгеньевна; E. Kh Bakaeva; Бакаева Эльвина Хисматуловна; M. G Shikhzadaeva; Шихзадаева Марианна Гульмугамедовна; E. A Ul’rikh; Ульрих Елена Александровна; A. F Urmancheeva; Урманчеева Адель Федоровна; I. V Berlev; Берлев Игорь Викторович; E. N Imyanitov; Имянитов Евгений Наумович; A. M Belyaev; Беляев Алексей Михайлович

doi:10.18565/aig.2020.1pril.56-62

Prophylactic surgery in carriers of BRCA1 or BRCA2 gene mutation

作者: Gorodnova T.V¹, Sokolenko A.P¹, Kotiv K.B¹, Yakovleva M.G¹, Lavrinovich O.E¹, Mikaya N.A¹, Ibragimov Z.N¹, Trifanov Y.N¹, Bondarev N.E¹, Nekrasova E.A¹, Sidoruk A.A¹, Smirnova O.A¹, Guseinov K.D¹^,2, Bakhidze E.V¹^,2, Meshkova I.E¹, Bakaeva E.K.¹^,2, Shikhzadaeva M.G¹, Ul’rikh E.A¹^,2, Urmancheeva A.F¹^,2, Berlev I.V¹^,2, Imyanitov E.N¹, Belyaev A.M¹^,2
隶属关系:
1. N.N.Petrov Research Institute of Oncology
2. I.I. Mechnikov North-Western State Medical University
期: 编号 1S (2020): Supplement
页面: 56-62
栏目: Articles
URL: https://journals.eco-vector.com/0300-9092/article/view/248769
DOI: https://doi.org/10.18565/aig.2020.1pril.56-62
ID: 248769

如何引用文章

全文:

开放存取

##reader.subscriptionAccessGranted##
受限制的访问

订阅或者付费存取

详细
全文:
作者简介
参考
补充文件
统计

详细

Aim. To review strategies for prophylactic surgery in carriers of BRCA1 or BRCA2 gene mutations and their short and long-term outcomes regarding overall health and health-related quality of life. Materials and methods. Between January 2007 and December 2018, 752 women with ovarian cancer were tested for the most common mutations of BRCA1 (5382insC, 4153delA, 185delAG, 061G, 2080delA, 3875del4, 3819del5) and BRCA2 (6174delT) genes using allele-specific PCR. Patients with suspected hereditary ovarian cancer (n = 327) or concurrent breast and ovarian cancer (n = 16) were identified. The entire coding sequences of BRCA1 and BRCA2 genes were analyzed in these patients using high-resolution analysis of melting PCR products followed by sequencing of fragments with abnormal denaturation curves. Results. The study identified 97 patients with ovarian cancer who had common mutations of BRCA1 genes [5382insC in BRCA1 gene, 4153delA in BRCA1 gene, 185delAG in BRCA1 gene, and C61G in BRCA1 gene in 74 (76.3%), 13 (13.4%), 7 (7.2%), and 1 (1%) of patients, respectively], and BRCA1 gene C61G in 1 (1%), BRCA1 gene 2080delA in 2 (2.1%)) and two patients with the 617delLTmutation in the BRCA2 gene, as well as 19patients with rare mutations: in the BRCA1 gene (n = 14) and the BRCA2gene (n = 5). The following recurrent alleles of BRCA1 were identified among rare mutations: R1751X in 5 (35.7%), R1699W in 3 (21.4%), G1706E in 2(14.3%), c.2643delA in 2(14.3%), c.5215 + 1G> Tin 2(14.3%) (n = 2) andBRCA2: Y1762Xin 2(40%), and c. 6999dupA in 3 (60%). Among relatives who carried mutations, 2/72 (2.7%) were diagnosed with ovarian cancer and fallopian tube cancer. In healthy carriers of BRCA1 gene mutations, hysterectomy with adnexa removal and bilateral adnexectomy were performed in 5 (62.5%) and 3 (37.8%) patients, respectively. In all 8 cases of prophylactic surgery, no adenocarcinoma cells were detected in removed ovaries and fallopian tubes. Conclusion. Thus, salpingectomy during various gynecological surgeries is safe and may offer protection against ovarian cancer without compromising endocrine function. Besides, a delayed salpingectomy strategy may also serve as an effective alternative preventive strategy for women with a genetic predisposition to ovarian cancer.

关键词

salpingectomy, ovarian cancer, prevention, gene mutations, oophorectomy

全文:

参考

Alsop K., Fereday S., Meldrum C., et al. BRCA Mutation Frequency and Patterns of Treatment Response in BRCA Mutation-Positive Women With Ovarian Cancer: A Report From the Australian Ovarian Cancer Study Group. JCO. 2012; 30: 2654-63. doi: 10.1200/Jm.2011.39.8545
Gorodnova T.V., Sokolenko A.P., Ivantsov A.O., et al. High response rates to neoadjuvant platinum-based therapy in ovarian cancer patients carrying germ-line BRCA mutation. Cancer Lett. 2015; 2: 363-7. doi: 10.1016/j. canlet.2015.08.028
Ingham S.L., Sperrin M., Baildam A., et al. Risk-reducing surgery increases survival in BRCA1/2 mutation carriers unaffected at time of family referral. Breast Cancer Res Treat. 2013; 3: 611-8. doi: 10.1007/s10549-013-2765-x.
Nelson H.D., Pappas M., Zakher B., et al. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: a systematic review to update the U.S. Preventive Services Task Force recommendation. Ann Intern Med. 2014; 4: 255-66. doi: 10.7326/M13-1684
Rice M.S., Murphy M.A., Tworoger S.S. Tubal ligation, hysterectomy and ovarian cancer: a meta-analysis. J. Ovarian Res. 2012; 5(1): 2415-21. http://dx.doi. org/10.1186/1757-2215-5-13
Kotsopoulos J., Huzarski T., Gronwald J., et al. Bilateral Oophorectomy and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. J Natl Cancer Inst. 2016; 109(1): 255-66. doi: 10.1093/jnci/djw177
Suspitsin E.N., Sherina N.Y., Ponomariova D.N., et al. High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients. Hered Cancer Clin Pract. 2009; 7(1): 5. doi: 10.1186/1897-4287-7-5
Domchek S.M., Friebel T.M., Singer C.F., et al. Association of risk-reducing surgery in BRCA1 or BRCA2mutation carriers with cancer risk and mortality. JAMA. 2010; 9: 967-75. doi: 10.1001/jama.2010.1237
Medeiros F., Muto M.G., Lee Y., et al. The tubal fimbria is a preferred site for early adenocarcinoma in women with familial ovarian cancer syndrome. Am J Surg Pathol. 2006; 30(2): 230-6. doi: 10.1097/01.pas.0000180854.28831.77
Labidi-Galy S.I., Papp E., Hallberg D. High grade serous ovarian carcinomas originate in the fallopian tube. Nat Commun. 2017; 8(1): 1093. doi:10.1038/ s41467-017-00962-1
Marquez R.T., Baggerly K.A., Patterson A.P., et al. Patterns of gene expression in different histotypes of epithelial ovarian cancer correlate with those in normal fallopian tube, endometrium, and colon. Clin Cancer Res. 2005;11(17): 6116 26. doi: 10.1158/1078-0432.CCR-04-2509
Ducie J., Dao F., Considine M., et al. Molecular analysis of high-grade serous ovarian carcinoma with and without associated serous tubal intra-epithelial carcinoma. Nat Commun. 2017; 8(1): 990. doi: 10.1038/s41467-017-01217-9
Mehra K.K., Chang M.C., Folkins A.K., et al. The impact of tissue block sampling on the detection of p53 signatures in fallopian tubes from women with BRCA 1 or 2 mutations (BRCA+) and controls. Mod Pathol. 2011; 24(1): 152-6. doi: 10.1038/modpathol.2010.171.
Anderson C.K., Wallace S., Guiahi M., Sheeder J., Behbakht K., Spillman M.A. Risk-reducing salpingectomy as preventative strategy for pelvic serous cancer. Int J Gynecol Cancer. 2013; 23(1): 417-21. doi: 10.1097/IGC.0b013e3182849dba
Nebgen D.R., Hurteau J., Holman L.L., Bradford A., Munsell M.F., Soletsky B.R., et al. Bilateral salpingectomy with delayed oophorectomy for ovarian cancer risk reduction: a pilot study in women with BRCA1/2 mutations. Gynecol Oncol. 2019; 20: 117-20. doi: 10.1016/j.ygyno.2018.04.564

补充文件

附件文件

动作

1. JATS XML

下载

用户名
密码
记住我

忘记您的密码?	注册

用户名
密码
记住我

忘记您的密码?	注册

Prophylactic surgery in carriers of BRCA1 or BRCA2 gene mutation

全文:

详细

关键词

全文:

作者简介

T. Gorodnova

A. Sokolenko

Kh. Kotiv

M. Yakovleva

O. Lavrinovich

N. Mikaya

Z. Ibragimov

Yu. Trifanov

N. Bondarev

E. Nekrasova

A. Sidoruk

O. Smirnova

K. Guseinov

E. Bakhidze

I. Meshkova

E. Bakaeva

M. Shikhzadaeva

E. Ul’rikh

A. Urmancheeva

I. Berlev

E. Imyanitov

A. Belyaev

参考

补充文件