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ARE THE CLINICAL FINDINGS DIFFERENT IN PATIENTS WITH FAMILIAL BREAST AND OVARIAN CANCER SYNDROME WHO UNDERWENT PROPHYLACTIC SALPINGO-OOPHORECTOMY ?

Yıl 2023, Cilt: 24 Sayı: 1, 57 - 61, 03.01.2023
https://doi.org/10.18229/kocatepetip.991496

Öz

OBJECTIVE: The aim of this study was comparison of demographic and medical characteristics among BRCA1 and BRCA2 gene mutation carriers in women who underwent prophylactic surgery (bilateral salpingo-oophorectomy; BSO)due to BRCA1/2 (breast cancer1/2) gene mutation.
MATERIAL AND METHODS: Twenty-four women who were found to have BRCA1/2 gene mutations in our clinic in the last 5 years and had undergone prophylactic surgery (BSO) were included in the study. Patients with BRCA1 and BRCA2 gene mutations were compared in terms of age, number of pregnancies and births, body mass index (BMI), Ca125 value, history of infertility and breast cancer, type of surgery and postoperative pathology results.
RESULTS: The mean age of the patients included in the study was 45.5±5.8, BMI was 27.6±5.4kg/m2, Ca125 value was 17.9±14.1IU/ml, and 79.2% of the patients had a history of breast cancer. A total of 62.5% patients had BRCA1 and 37.5% had BRCA2 gene mutations. There was no statistically difference found between the two groups in terms of age, number of pregnancies and births, BMI, Ca125 value, history of infertility and breast cancer, type of surgery and postoperative pathology (p>0.05). As a result of the postoperative pathological evaluation, ovarian cancer was detected in one patient (in the BRCA1 group).
CONCLUSIONS: There is no difference in terms of demographic and medical characteristics between patients with BRCA1 and BRCA2 gene mutations, and it should be kept in mind that malignancy may be found as a result of the final pathology.

Kaynakça

  • 1. Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre LA, Jemal A. Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2018;68(6):394-424.
  • 2. Andrews L, Mutch DG. Hereditary Ovarian Cancer and Risk Reduction. Best Pract Res Clin Obstet Gynaecol. 2017;41:31-48.
  • 3. 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. Am J Hum Genet. 2003;72(5):1117-30.
  • 4. Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA. 2017;317(23):2402-16.
  • 5. Kotsopoulos J, Gronwald J, Karlan B, et al. Hereditary Ovarian Cancer Clinical Study Group. Age-specific ovarian cancer risks among women with a BRCA1 or BRCA2 mutation. Gynecol Oncol. 2018;150(1):85-91.
  • 6. Daly MB, Pal T, Berry MP, et al. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2021;19(1):77-102.
  • 7. Lavazzo C, Gkegkes ID, Vrachnis N. Primary peritoneal cancer in BRCA carriers after prophylactic bilateral salpingo-oophorectomy. J Turk Ger Gynecol Assoc. 2016;17(2):73-6.
  • 8. Blok F, Roes EM, van Leenders GJ, van Beekhuizen HJ. The lack of clinical value of peritoneal washing cytology in high risk patients undergoing risk-reducing salpingo-oophorectomy: a retrospective study and review. BMC Cancer. 2016;16:18.
  • 9. De Jonge MM, de Kroon CD, Jenner DJ, et al. Endometrial Cancer Risk in Women With Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study. J Natl Cancer Inst. 2021;113(9):1203-11.
  • 10. Garcia C, Wendt J, Lyon L, et al. Risk management option selected by women after testing positive for a BRCA mutation. Gynecol Oncol. 2014;132(2):428-33.
  • 11. Loman N, Johannsson O, Kristoffersson U, Olsson H, Borg A. Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer. J Natl Cancer Inst. 2001;93(16):1215-23.
  • 12. Risch HA, McLaughlin JR, Cole DE, et al. Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet. 2001;68(3):700-10.
  • 13. Geredeli C, Yasar N, Sakin A. Germline mutations in BRCA1 and BRCA2 in breast cancer patients with high genetic risk in Turkish population. Int J Breast Cancer. 2019;2019:9645147.
  • 14. Bahsi T, Erdem HB. Spectrum of BRCA1/BRCA2 variants in 1419 Turkish breast and ovarian cancer patients: a single center study. Turkish Journal of Biochemistry. 2020;45(1):83-90.
  • 15. Shu CA, Pike MC, Jotwani AR, et al. Uterine Cancer After Risk-Reducing Salpingo-oophorectomy Without Hysterectomy in Women With BRCA Mutations. JAMA Oncol. 2016;2(11):1434-1440.
  • 16. Kenkhuis MJ, de Bock GH, Elferink PO, et al. Short-term surgical outcome and safety of risk reducing salpingo-oophorectomy in BRCA1/2 mutation carriers. Maturitas. 2010;66(3):310-4.
  • 17. Finch A, Beiner M, Lubinski J, et al. Hereditary Ovarian Cancer Clinical Study Group. Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation. JAMA. 2006;296(2):185-92.
  • 18. Finch AP, Lubinski J, Møller P, et al. Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. J Clin Oncol. 2014;32(15):1547-53.

PROFLAKTİK SALPİNGO-OOFOREKTOMİ YAPILAN AİLEVİ MEME VE OVER KANSER SENDROMLU HASTALARDA KLİNİK BULGULAR FARKLI MIDIR ?

Yıl 2023, Cilt: 24 Sayı: 1, 57 - 61, 03.01.2023
https://doi.org/10.18229/kocatepetip.991496

Öz

AMAÇ: Bu çalışmanın amacı; BRCA1/2 (breast cancer1/2) gen mutasyonu nedeniyle proflaktik cerrahi (bilateral salpingo-ooforektomi; BSO) yapılan kadınlarda demografik ve tıbbi özelliklerin BRCA1 ve BRCA2 gen mutasyonu taşıyıcıları arasında karşılaştırılmasıdır.
GEREÇ VE YÖNTEM: Kliniğimizde son 5 yıl içerisinde BRCA1/2 gen mutasyonu saptanmış ve proflaktik cerrahi (BSO) yapılmış olan 24 kadın çalışmaya alındı. BRCA1 ve BRCA2 gen mutasyonu saptanan hastalar yaş, gebelik ve doğum sayısı, vücut kitle indeksi (VKİ), Ca125 değeri, infertilite ve meme kanseri öyküsü, cerrahi şekli ve postop patoloji sonuçları açısından karşılaştırıldı.
BULGULAR: Çalışmaya alınan hastaların yaş ortalaması 45,5±5,8, VKİ 27,6±5,4kg/m2, Ca125 değeri 17,9±14,1İÜ/ml saptanmış olup hastaların %79,2’sinde meme kanseri öyküsü mevcuttu. Hastaların %62,5’inde BRCA1 ve %37,5’inde BRCA2 gen mutasyonu mevcuttu. BRCA1 ve BRCA2 grupları arasında yapılan karşılaştırmada yaş, gebelik ve doğum sayısı, VKİ, Ca125 değeri, infertilite ve meme kanseri öyküsü, cerrahi şekli ve postoperatif patoloji sonuçları açısından her iki grup arasında istatistiksel olarak anlamlı fark saptanmadı (p>0,05). Postoperatif patolojik değerlendirme neticesinde bir hastada over kanseri (BRCA1 grubunda) saptandı.
SONUÇ: BRCA1 ve BRCA2 gen mutasyonu olan hastalarda demografik ve tıbbi özellikler açısından fark bulunmayıp, nihai patoloji sonucunda malignite çıkabileceği akılda tutulmalıdır.

Kaynakça

  • 1. Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre LA, Jemal A. Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2018;68(6):394-424.
  • 2. Andrews L, Mutch DG. Hereditary Ovarian Cancer and Risk Reduction. Best Pract Res Clin Obstet Gynaecol. 2017;41:31-48.
  • 3. 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. Am J Hum Genet. 2003;72(5):1117-30.
  • 4. Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA. 2017;317(23):2402-16.
  • 5. Kotsopoulos J, Gronwald J, Karlan B, et al. Hereditary Ovarian Cancer Clinical Study Group. Age-specific ovarian cancer risks among women with a BRCA1 or BRCA2 mutation. Gynecol Oncol. 2018;150(1):85-91.
  • 6. Daly MB, Pal T, Berry MP, et al. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2021;19(1):77-102.
  • 7. Lavazzo C, Gkegkes ID, Vrachnis N. Primary peritoneal cancer in BRCA carriers after prophylactic bilateral salpingo-oophorectomy. J Turk Ger Gynecol Assoc. 2016;17(2):73-6.
  • 8. Blok F, Roes EM, van Leenders GJ, van Beekhuizen HJ. The lack of clinical value of peritoneal washing cytology in high risk patients undergoing risk-reducing salpingo-oophorectomy: a retrospective study and review. BMC Cancer. 2016;16:18.
  • 9. De Jonge MM, de Kroon CD, Jenner DJ, et al. Endometrial Cancer Risk in Women With Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study. J Natl Cancer Inst. 2021;113(9):1203-11.
  • 10. Garcia C, Wendt J, Lyon L, et al. Risk management option selected by women after testing positive for a BRCA mutation. Gynecol Oncol. 2014;132(2):428-33.
  • 11. Loman N, Johannsson O, Kristoffersson U, Olsson H, Borg A. Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer. J Natl Cancer Inst. 2001;93(16):1215-23.
  • 12. Risch HA, McLaughlin JR, Cole DE, et al. Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet. 2001;68(3):700-10.
  • 13. Geredeli C, Yasar N, Sakin A. Germline mutations in BRCA1 and BRCA2 in breast cancer patients with high genetic risk in Turkish population. Int J Breast Cancer. 2019;2019:9645147.
  • 14. Bahsi T, Erdem HB. Spectrum of BRCA1/BRCA2 variants in 1419 Turkish breast and ovarian cancer patients: a single center study. Turkish Journal of Biochemistry. 2020;45(1):83-90.
  • 15. Shu CA, Pike MC, Jotwani AR, et al. Uterine Cancer After Risk-Reducing Salpingo-oophorectomy Without Hysterectomy in Women With BRCA Mutations. JAMA Oncol. 2016;2(11):1434-1440.
  • 16. Kenkhuis MJ, de Bock GH, Elferink PO, et al. Short-term surgical outcome and safety of risk reducing salpingo-oophorectomy in BRCA1/2 mutation carriers. Maturitas. 2010;66(3):310-4.
  • 17. Finch A, Beiner M, Lubinski J, et al. Hereditary Ovarian Cancer Clinical Study Group. Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation. JAMA. 2006;296(2):185-92.
  • 18. Finch AP, Lubinski J, Møller P, et al. Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. J Clin Oncol. 2014;32(15):1547-53.
Toplam 18 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Konular Klinik Tıp Bilimleri
Bölüm Makaleler-Araştırma Yazıları
Yazarlar

Gökşen Görgülü 0000-0003-2837-8497

Muzaffer Sancı 0000-0002-8494-4302

Yayımlanma Tarihi 3 Ocak 2023
Kabul Tarihi 10 Mart 2022
Yayımlandığı Sayı Yıl 2023 Cilt: 24 Sayı: 1

Kaynak Göster

APA Görgülü, G., & Sancı, M. (2023). PROFLAKTİK SALPİNGO-OOFOREKTOMİ YAPILAN AİLEVİ MEME VE OVER KANSER SENDROMLU HASTALARDA KLİNİK BULGULAR FARKLI MIDIR ?. Kocatepe Tıp Dergisi, 24(1), 57-61. https://doi.org/10.18229/kocatepetip.991496
AMA Görgülü G, Sancı M. PROFLAKTİK SALPİNGO-OOFOREKTOMİ YAPILAN AİLEVİ MEME VE OVER KANSER SENDROMLU HASTALARDA KLİNİK BULGULAR FARKLI MIDIR ?. KTD. Ocak 2023;24(1):57-61. doi:10.18229/kocatepetip.991496
Chicago Görgülü, Gökşen, ve Muzaffer Sancı. “PROFLAKTİK SALPİNGO-OOFOREKTOMİ YAPILAN AİLEVİ MEME VE OVER KANSER SENDROMLU HASTALARDA KLİNİK BULGULAR FARKLI MIDIR ?”. Kocatepe Tıp Dergisi 24, sy. 1 (Ocak 2023): 57-61. https://doi.org/10.18229/kocatepetip.991496.
EndNote Görgülü G, Sancı M (01 Ocak 2023) PROFLAKTİK SALPİNGO-OOFOREKTOMİ YAPILAN AİLEVİ MEME VE OVER KANSER SENDROMLU HASTALARDA KLİNİK BULGULAR FARKLI MIDIR ?. Kocatepe Tıp Dergisi 24 1 57–61.
IEEE G. Görgülü ve M. Sancı, “PROFLAKTİK SALPİNGO-OOFOREKTOMİ YAPILAN AİLEVİ MEME VE OVER KANSER SENDROMLU HASTALARDA KLİNİK BULGULAR FARKLI MIDIR ?”, KTD, c. 24, sy. 1, ss. 57–61, 2023, doi: 10.18229/kocatepetip.991496.
ISNAD Görgülü, Gökşen - Sancı, Muzaffer. “PROFLAKTİK SALPİNGO-OOFOREKTOMİ YAPILAN AİLEVİ MEME VE OVER KANSER SENDROMLU HASTALARDA KLİNİK BULGULAR FARKLI MIDIR ?”. Kocatepe Tıp Dergisi 24/1 (Ocak 2023), 57-61. https://doi.org/10.18229/kocatepetip.991496.
JAMA Görgülü G, Sancı M. PROFLAKTİK SALPİNGO-OOFOREKTOMİ YAPILAN AİLEVİ MEME VE OVER KANSER SENDROMLU HASTALARDA KLİNİK BULGULAR FARKLI MIDIR ?. KTD. 2023;24:57–61.
MLA Görgülü, Gökşen ve Muzaffer Sancı. “PROFLAKTİK SALPİNGO-OOFOREKTOMİ YAPILAN AİLEVİ MEME VE OVER KANSER SENDROMLU HASTALARDA KLİNİK BULGULAR FARKLI MIDIR ?”. Kocatepe Tıp Dergisi, c. 24, sy. 1, 2023, ss. 57-61, doi:10.18229/kocatepetip.991496.
Vancouver Görgülü G, Sancı M. PROFLAKTİK SALPİNGO-OOFOREKTOMİ YAPILAN AİLEVİ MEME VE OVER KANSER SENDROMLU HASTALARDA KLİNİK BULGULAR FARKLI MIDIR ?. KTD. 2023;24(1):57-61.

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