Risk-reducing bilateral salpingo-oophorectomy in patients with BRCA1 and BRCA2 mutations

Abstract

Abstract Aim: Women with mutations in BRCA1/BRCA2 are at increased risk for breast and gynecologic cancers. The aim of the study to evaluate the clinical and surgical outcomes in patients with BRCA mutation carriers undergoing risk-reducing salpingo-oophorectomy (RRSO). Methods: This retrospective observational study was conducted at Kartal Dr. Lütfi Kırdar City Hospital, between 2012 and 2022. The medical records of patients with BRCA1/BRCA2 mutations who had undergone prophylactic RRSO, were reviewed. The socio-demographic characteristics, clinical features, histopathological findings and surgical data were collected. Results: A total of eleven patients with deleterious mutations (7 BRCA1 and 4 BRCA2) were identified during 10-year period. Following genetic counselling, all patients underwent RRSO. One of seven BRCA1 carriers were diagnosed with high grade serous ovarian carcinoma. Of these patients, eight had history of breast cancer. The remaining one BRCA mutation carriers underwent RRSO, but did not undergo prophylactic mastectomy. Conclusions: Our findings support that BRCA1 or 2 mutation carriers have an increased lifetime risk of developing breast and ovarian cancer. For the prevention of breast and gynecological cancers, it is of great importance to provide professional genetic counseling, surveillance, and risk-reducing bilateral mastectomy and RRSO to BRCA mutation carriers.

Keywords

• BRCA1
• BRCA2
• BRCA mutation carriers
• breast cancer
• risk-reducing surgery
• risk-reducing oophorectomy
• risk-reducing mastectomy
• ovarian cancer

BRCA1 ve BRCA2 mutasyonlu hastalarda risk azaltıcı bilateral salpingo-ooferektomi

Abstract

Amaç: BRCA1/BRCA2 mutasyonu olan kadınlar meme ve jinekolojik kanserler için yüksek risk altındadır. Bu çalışmanın amacı, risk azaltıcı salpingo-ooferektomi (RRSO) uygulanan BRCA mutasyon taşıyıcıları olan hastalarda klinik ve cerrahi sonuçları değerlendirmektir. Yöntemler: Bu retrospektif gözlemsel çalışma Kartal Dr. Lütfi Kırdar Şehir Hastanesi'nde 2012-2022 yılları arasında yapıldı. Profilaktik RRSO uygulanan BRCA1/BRCA2 mutasyonlu hastaların tıbbi kayıtları incelendi. Sosyodemografik özellikler, klinik özellikler, histopatolojik bulgular ve cerrahi veriler toplandı. Bulgular: 10 yıllık süre içinde BRCA mutasyonları olan (7 BRCA1 ve 4 BRCA2) toplam 11 hasta tespit edildi. Genetik danışma sonrasında tüm hastalara RRSO uygulandı. Yedi BRCA1 taşıyıcısından birine yüksek dereceli seröz yumurtalık kanseri teşhisi kondu. Bu hastalardan sekizinde meme kanseri öyküsü vardı. Kalan bir BRCA mutasyon taşıyıcısına RRSO uygulandı, ancak profilaktik mastektomi yapılmadı. Sonuçlar: Bulgularımız, BRCA1 veya 2 mutasyon taşıyıcılarının yaşam boyu meme ve yumurtalık kanseri geliştirme riskinin arttığını desteklemektedir. Meme ve jinekolojik kanserlerin önlenmesi için profesyonel genetik danışmanlık, gözetim ve risk azaltıcı bilateral mastektomi ve RRSO'dan BRCA mutasyon taşıyıcılarına verilmesi büyük önem taşımaktadır.

Keywords

• BRCA1
• BRCA2
• BRCA mutasyon taşıyıcıları
• meme kanseri
• risk azaltıcı cerrahi
• risk azaltıcı ooferektomi
• risk azaltıcı mastektomi
• over kanseri

References

1. References 1. Momenimovahed Z, Tiznobaik A, Taheri S, et al. Ovarian cancer in the world: epidemiology and risk factors. Int J Womens Health 2019;11:287-99.
2. 2. Kurman RJ, Shih IeM. Molecular pathogenesis and extraovarian origin of epithelial ovarian cancer: shifting the paradigm. Hum Pathol. 2011;42(7):918-31.
3. 3. La Vecchia C. Ovarian cancer: epidemiology and risk factors. Eur J Cancer Prev. 2017;26(1):55-62.
4. 4. Marchetti C, Iadarola R, Palaia I, et al. Hormone therapy in oophorectomized BRCA1/2 mutation carriers. Menopause. 2014;21(7):763-8.
5. 5. Gordhandas S, Norquist BM, Pennington KP, Yung RL, Laya MB, Swisher EM. Hormone replacement therapy after risk reducing salpingo-oophorectomy in patients with BRCA1 or BRCA2 mutations; a systematic review of risks and benefits. Gynecol Oncol. 2019;153(1):192-200.
6. 6. National Comprehensive Cancer Network (NCCN). Genetic/familial high-risk assessment: breast and ovarian (version 3.2019).
7. 7. Powell CB, Chen LM, McLennan J, et al. Risk-reducing salpingo-oophorectomy (RRSO) in BRCA mutation carriers: experience with a consecutive series of 111 patients using a standardized surgical-pathological protocol. Int J Gynecol Cancer 2011;21:846–51.
8. 8. Metcalfe KA, Birenbaum-Carmeli D, Lubinski J, et al. International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers. Int. J. Cancer. 2008;122:2017–2022.

9. 9. Finch Amy P.M., Lubinski Jan, Møller Pål, et al. Impact of Oophorectomy on Cancer Incidence and Mortality in Women With a BRCA1 or BRCA2 Mutation. Journal of Clinical Oncology. 2014;32(15):1547–1553.
10. 10. Metcalfe K, Eisen A, Senter L, et al. International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation. Br J Cancer. 2019;121:15–21.
11. 11. Hartmann LC, Sellers TA, Schaid DJ, et al. Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. J Natl Cancer Inst. 2001; 93: 1633–1637.
12. 12. Bolton KL, Chenevix-Trench G, Goh C, Sadetzki S, Ramus SJ, Karlan BY, et al. Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. JAMA. 2012;307(4):382- 90.
13. 13. Romero I, Sun CC, Wong KK, Bast RC, Jr., Gershenson DM. Low-grade serous carcinoma: new concepts and emerging therapies. Gynecol Oncol. 2013;130(3):660-6.
14. 14. Hartmann LC, Lindor NM. The Role of Risk-Reducing Surgery in Hereditary Breast and Ovarian Cancer. N Engl J Med. 2016;374(5):454-68.
15. 15. Gulfem Basol, Elif Cansu Gundogdu, Emre Mat, et al. Influences of Uterine Adenomyosis On Pathologic Prognostic Characteristics and Survival Time in Patients with Endometrial Cancer. South Clin Ist Euras. 2022; 33(1): 51-58
16. 16. Rosen B., Kwon J., Fung M.F., Gagliardi A., Chambers A., Cancer Care Ontario’s Practice Guidelines Initiative Gynecology Cancer Disease Site Group Systematic review of management options for women with a hereditary predisposition to ovarian cancer. Gynecol.Oncol. 2004;93:280–286.
17. 17. Gasparri ML, Taghavi K, Fiacco E, et al. Risk-Reducing Bilateral Salpingo-Oophorectomy for BRCA Mutation Carriers and Hormonal Replacement Therapy: If It Should Rain, Better a Drizzle than a Storm. Medicina (Kaunas). 2019;55(8):415.