Jinekolojik Onkoloji Pratiğimizde Risk Azaltıcı Cerrahi Yönetimi Gerektiren Genetik Değişiklikler

Ferah Kazancı; Feride İffet Şahin

doi:10.17827/aktd.1059207

Derleme

Genetic Disorders Requiring Risk-Reducing Surgical Management in Our Gynecological Oncology Practice

Yıl 2022, Cilt: 31 Sayı: 2, 132 - 146, 30.06.2022

Ferah Kazancı Feride İffet Şahin

https://doi.org/10.17827/aktd.1059207

Öz

Cancer occurs as a result of the mutations in genes that are responsible for cell development and DNA integrity. Mutations can occur in germ cells (germline) (GLM) as well as others (somatic) (SM). GLM are responsible for 5-10% of cancers. Early detection of GLMs is critical for identifying at-risk individuals, following up, and designing risk-reducing procedures. Furthermore, the detection of SM in tumor tissue has recently been used to determine the necessity for extra adjuvant and targeted therapy. Although familial clustering is observed in 10-30% of ovarian (OC) and breast (BC) cancer cases. GLM in the BRCA1/2, which cause DNA repair deficiencies, are responsible for 65-85% of genetic anomalies in hereditary OC. Risk-reducing mastectomy (RRM) reduces the risk of BC by about % 90-95 in cases with pathogenic mutations (PMs) in the BRCA1/2 genes, while risk-reducing salpingo-oophorectomy (RRSO) reduces the incidence of BC (%50 ) and OC(%70-96 ), as well as a decrease in overall cancer-specific mortality. Except for BRCA1/2, OC is caused by PMs in genes like RAD51C, RAD51D and BRIP1, which affect DNA repair process. RRSO is indicated among carriers of PMs in these genes. Lynch syndrome (LS) is associated with a higher risk of colorectal and endometrial cancer. After completing their fertility, hysterectomy and bilateral RRSO are recommended for carriers of PMs in the MLH1, MSH2, and MSH6 genes. Based on the most recent guidelines, our goal in this review is to highlight the genetic alterations that necessitate risk-reducing prophylactic surgical procedures, which are becoming more common in our gynecological oncology practice.

Anahtar Kelimeler

Hereditary cancer syndrome, Risk reducing surgery, BRCA1/2, RAD51 genes, PALB2, BIRP1

Destekleyen Kurum

Proje Numarası

Teşekkür

None

Kaynakça

1. Paul D. The systemic hallmarks of cancer. J Cancer Metastasis Treat 2020;6:29. http://dx.doi.org/10.20517/2394-4722.2020.63
2. Blackadar CB. Historical review of the causes of cancer. World J Clin Oncol. 2016;7(1):54-86. Doi: 10.5306/wjco.v7.i1.54.
3. Pavlopoulou A, Spandidos DA, Michalopoulos I. Human cancer databases (review). Oncol Rep. 2015 Jan;33(1):3-18. Doi: 10.3892/or.2014.3579
4. Chen L, Modesitte S, The American College of Obstetricians and Gynecologists. ACOG Comittee Opinion. Comittee on Genetics. No:793. Obstet Gynecol.2019; 134(6):e143.
5. Pennington KP, Walsh T, Harrell MI, Lee MK, Pennil CC, Rendi MH, et al. Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clin. Cancer Res. 2014;20:764–775. Doi: 10.1158/1078-0432.CCR-13-2287.
6. Angeli D, Salvi S, Tedaldi G. Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test? Int. J. Mol. Sci. 2020; 21: 1128 http://dx.doi.org/10.3390/ijms21031128.
7. Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing Proc Natl Acad Sci USA 2011; 108(44):18032-7. 3. Doi: 10.1073/pnas.1115052108
8. Toss A, Tomasello C, Razzaboni E, Contu G, Grandi G, Cagnacci A, et al. Hereditary Ovarian Cancer : Not Only BRCA1 and 2 genes. Biomed Reseach International 2019; ID 341723,11 pages http ;//dx.doi.org/19.1155/2015/341723.
9. Foulkes W.D, Shuen A.Y. In brief: BRCA1 and BRCA2. J. Pathol. 2013;230(4): 347–349.Doi: 10.1002/path.4205.
10. Wang Y, Cortez D, Yazdi P, Neff N, Elledge S.J, Qin, J. BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes Dev. 2000; 14(8): 927–939. PMID: 10783165
11. Mavaddat N, Peock S, Frost D, Ellis S, Platte R, Fineberg E, et al. Cancer risks for BRCA1 and BRCA2 mutation carriers: Results from prospective analysis of EMBRACE. J. Natl. Cancer Inst. 2013; 105(11): 812–822. Doi: 10.1093/jnci/djt095.
12. Tai Y.C, Domchek,S, Parmigiani G, Chen S. Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. J. Natl. Cancer Inst. 2007;99(23): 1811–1814. Doi: 10.1093/jnci/djm203.
13. Ghiorzo P, Pensotti V, Fornarini G, Sciallero S, Battistuzzi L, Belli F, et al. Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy. Fam. Cancer 2012;11(1):41–47.Doi: 10.1007/s10689-011-9483-5.
14. Leongamornlert D, Mahmud N, Tymrakiewicz M, Saunders E, Dadaev T, Castro E, et al. Germline BRCA1 mutations increase prostate cancer risk. Br. J. Cancer 2012; 106(10): 1697–1701. Doi: 10.1038/bjc.2012.146.
15. Roy R, Chun J, Powell S.N. BRCA1 and BRCA2: Different roles in a common pathway of genome protection. Nat. Rev. Cancer 2011; 12: 68–78. Doi:10.1038/nrc3181
16. Buisson R, Dion-Côté A-M, Coulombe Y, Launay H, Cai H, Stasiak AZ, et al. Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination. Nat. Struct. Mol. Biol. 2010;17(10):1247–1254. Doi: 10.1038/nsmb.1915.
17. Iqbal, J, Ragone A, Lubinski J, Lynch H.T, Moller P, Ghadirian P, et al. The incidence of pancreatic cancer in BRCA1 and BRCA2 mutation carriers. Br. J. Cancer 107(12): 2005–2009 . Doi: 10.1038/bjc.2012.483
18. Moran A, O’Hara C, Khan S, Shack L, Woodward E, Maher E.R, et al. Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations. Fam. Cancer 2012; 11(2):235–242. Doi: 10.1007/s10689-011-9506-2.
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21. Finch AP, Lubinski J, Moller P, Singer CF, Karlan B, Senter L, 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- 1553. Doi: 10.1200/JCO.2013.53.2820
22. Hartmann LC, Lindor NM. The role of risk-reducing surgery in hereditary breast and ovarian cancer. N Engl J Med. 2016;374(5):454–468. Doi: 10.1056/NEJMra15035249.
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Jinekolojik Onkoloji Pratiğimizde Risk Azaltıcı Cerrahi Yönetimi Gerektiren Genetik Değişiklikler

Yıl 2022, Cilt: 31 Sayı: 2, 132 - 146, 30.06.2022

Ferah Kazancı Feride İffet Şahin

https://doi.org/10.17827/aktd.1059207

Öz

Kanser, fonksiyonu hücre büyümesi ve DNA’nın bütünlüğünü koruma olan genlerdeki mutasyonlar sonucu gelişir. Mutasyonlar, germ hücrelerinde(germline)(GLM) ve diğer hücrelerde (somatik)(SM) olabilir. Kanserlerin %5-10’undan germline mutasyonlar sorumludur. Erken dönemde GLM’ların tespit edilmesi; risk altındaki bireylerin belirlenmesi, takibinin yapılması ve risk azaltıcı koruyucu stratejilerin geliştirilmesi açısından önemlidir. Ayrıca son zamanlarda tümör dokusunda SM’ların tespiti, hedefe yönelik ve adjuvan tedaviyi düzenlemede rehber olmaktadır. Over ve meme kanserlerinin yaklaşık %10-30’u ailesel kümelenme göstermekle birlikte vakaların sadece %5-10’u kalıtsaldır. Özellikle, kalıtsal over kanserlerinin yaklaşık %65-85’ini DNA onarım kusurlarına neden olan BRCA1/2 genlerinde GLM’lar sonucu oluşmaktadır. BRCA1/2 genlerinde patojenik mutasyonu olan bireyler için risk azaltıcı mastektomi (RRM) meme kanseri riskini %90-95 oranında azaltırken, salpingo-ooferektomi (RRSO) ile meme ( %50), over ve fallop tüpü kanseri insidansı da ( %70-96) azalmaktadır. Ayrıca RRSO, kansere özgü genel mortaliteyi azaltmakla ve over kanserini önlemede en etkili seçenek olarak kabul edilmektedir. BRCA1/2 dışında homolog rekombinasyon yolu DNA tamirinde rol oynayan RAD51C, RAD51D ve BRIP1 genlerdeki patojenik mutasyonlar over kanserinde rol oynamaktadır. RAD51C, RAD51D ve BRIP1, genlerinin patojenik mutasyon taşıyıcılarında rehberler, RRSO’i önermektedir. Lynch sendromu (LS), kolorektal ve endometriyal kanser gelişme riskinde artış ile karakterize otozomal dominant bir hastalıktır. LS’da endometrium ve over kanseri risk artışı en fazla olan MLH1, MSH2 ve MSH6 genlerinde patojenik mutasyon taşıyıcılarında fertilitesini tamamladıktan sonra risk azaltıcı cerrahi olarak histerektomi ve RRSO önerilmektedir. Bu derlemede amacımız, jinekolojik onkoloji pratiğimizde son zamanlarda kullanımı gittikçe artan risk azaltıcı profilaktik cerrahi uygulamaları gerektiren genetik hastalıkları son rehberler eşliğinde özetlemektir.

Anahtar Kelimeler

BRCA1/2, PALB2, Kalıtsal kanser sendromu, Risk azaltıcı cerrahi, BRCA1/2, RAD51 genleri, PALB2, BIRP1.

Proje Numarası

Kaynakça

1. Paul D. The systemic hallmarks of cancer. J Cancer Metastasis Treat 2020;6:29. http://dx.doi.org/10.20517/2394-4722.2020.63
2. Blackadar CB. Historical review of the causes of cancer. World J Clin Oncol. 2016;7(1):54-86. Doi: 10.5306/wjco.v7.i1.54.
3. Pavlopoulou A, Spandidos DA, Michalopoulos I. Human cancer databases (review). Oncol Rep. 2015 Jan;33(1):3-18. Doi: 10.3892/or.2014.3579
4. Chen L, Modesitte S, The American College of Obstetricians and Gynecologists. ACOG Comittee Opinion. Comittee on Genetics. No:793. Obstet Gynecol.2019; 134(6):e143.
5. Pennington KP, Walsh T, Harrell MI, Lee MK, Pennil CC, Rendi MH, et al. Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clin. Cancer Res. 2014;20:764–775. Doi: 10.1158/1078-0432.CCR-13-2287.
6. Angeli D, Salvi S, Tedaldi G. Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test? Int. J. Mol. Sci. 2020; 21: 1128 http://dx.doi.org/10.3390/ijms21031128.
7. Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing Proc Natl Acad Sci USA 2011; 108(44):18032-7. 3. Doi: 10.1073/pnas.1115052108
8. Toss A, Tomasello C, Razzaboni E, Contu G, Grandi G, Cagnacci A, et al. Hereditary Ovarian Cancer : Not Only BRCA1 and 2 genes. Biomed Reseach International 2019; ID 341723,11 pages http ;//dx.doi.org/19.1155/2015/341723.
9. Foulkes W.D, Shuen A.Y. In brief: BRCA1 and BRCA2. J. Pathol. 2013;230(4): 347–349.Doi: 10.1002/path.4205.
10. Wang Y, Cortez D, Yazdi P, Neff N, Elledge S.J, Qin, J. BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes Dev. 2000; 14(8): 927–939. PMID: 10783165
11. Mavaddat N, Peock S, Frost D, Ellis S, Platte R, Fineberg E, et al. Cancer risks for BRCA1 and BRCA2 mutation carriers: Results from prospective analysis of EMBRACE. J. Natl. Cancer Inst. 2013; 105(11): 812–822. Doi: 10.1093/jnci/djt095.
12. Tai Y.C, Domchek,S, Parmigiani G, Chen S. Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. J. Natl. Cancer Inst. 2007;99(23): 1811–1814. Doi: 10.1093/jnci/djm203.
13. Ghiorzo P, Pensotti V, Fornarini G, Sciallero S, Battistuzzi L, Belli F, et al. Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy. Fam. Cancer 2012;11(1):41–47.Doi: 10.1007/s10689-011-9483-5.
14. Leongamornlert D, Mahmud N, Tymrakiewicz M, Saunders E, Dadaev T, Castro E, et al. Germline BRCA1 mutations increase prostate cancer risk. Br. J. Cancer 2012; 106(10): 1697–1701. Doi: 10.1038/bjc.2012.146.
15. Roy R, Chun J, Powell S.N. BRCA1 and BRCA2: Different roles in a common pathway of genome protection. Nat. Rev. Cancer 2011; 12: 68–78. Doi:10.1038/nrc3181
16. Buisson R, Dion-Côté A-M, Coulombe Y, Launay H, Cai H, Stasiak AZ, et al. Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination. Nat. Struct. Mol. Biol. 2010;17(10):1247–1254. Doi: 10.1038/nsmb.1915.
17. Iqbal, J, Ragone A, Lubinski J, Lynch H.T, Moller P, Ghadirian P, et al. The incidence of pancreatic cancer in BRCA1 and BRCA2 mutation carriers. Br. J. Cancer 107(12): 2005–2009 . Doi: 10.1038/bjc.2012.483
18. Moran A, O’Hara C, Khan S, Shack L, Woodward E, Maher E.R, et al. Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations. Fam. Cancer 2012; 11(2):235–242. Doi: 10.1007/s10689-011-9506-2.
19. National Comprehensive Cancer Network (NCCN) Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian and Pancreatic. Version 1. 2022. Available online: https://www.nccn.org/professionals/ physician_gls/pdf/genetics_bop.pdf (accessed on 11 August 2021).
20. Ludwig KK, Neuner J, Butler A, Geurts JL, Kong AL. Risk reduction and survival benefit of prophylactic surgery in BRCA mutation carriers, a systematic review. Am J Surg. 2016;212 (4):660–669. Doi: 10.1016/j.amjsurg.2016.06.010
21. Finch AP, Lubinski J, Moller P, Singer CF, Karlan B, Senter L, 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- 1553. Doi: 10.1200/JCO.2013.53.2820
22. Hartmann LC, Lindor NM. The role of risk-reducing surgery in hereditary breast and ovarian cancer. N Engl J Med. 2016;374(5):454–468. Doi: 10.1056/NEJMra15035249.
23. Rebbeck TR, Kauff ND, Domchek SM. Meta-analysis of risk reduction estimates associated with risk-reducing salpingooophorectomy in BRCA1 or BRCA2 mutation carriers. J. Natl. Cancer Inst. 2009; 101: 80–87. Doi: 10.1093/jnci/djn442.
24. Heemskerk-Gerritsen BA, Seynaeve C, van Asperen CJ, Ausems MG, Collée JM, van Doorn HC, et al. Breast cancer risk after salpingo-oophorectomy in healthy BRCA1/2 mutation carriers: Revisiting the evidence for risk reduction. J. Natl. Cancer Inst. 2015; 107: djv033. Doi: 10.1093/jnci/djv033
25. Kauff ND, Domchek SM, Friebel TM, Robson ME, Lee J, Garber JE, et al. Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: A multicenter, prospective study. J. Clin. Oncol. 2008; 26: 1331–1337. Doi:10.200/JGO.2007.13.9626
26. Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 2010;304:967–975. Doi: 10.1001/jama.2010.1237.
27. Marchetti C, De Felice F, Palaia I, Perniola G, Musella A, Musio D, et al. Risk-reducing salpingo-oophorectomy: A meta-analysis on impact on ovarian cancer risk and all cause mortality in BRCA1 and BRCA2 mutation carriers. BMC Women’s Health . 2014;14: 150. Doi: 10.1186/s12905-014-0150-5.
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Toplam 53 adet kaynakça vardır.

Ayrıntılar

Birincil Dil	Türkçe
Konular	Sağlık Kurumları Yönetimi
Bölüm	Derleme
Yazarlar	Ferah Kazancı 0000-0002-3910-0821 Feride İffet Şahin 0000-0001-7308-9673
Proje Numarası	No
Yayımlanma Tarihi	30 Haziran 2022
Kabul Tarihi	14 Haziran 2022
Yayımlandığı Sayı	Yıl 2022 Cilt: 31 Sayı: 2

Kaynak Göster

AMA	Kazancı F, Şahin Fİ. Jinekolojik Onkoloji Pratiğimizde Risk Azaltıcı Cerrahi Yönetimi Gerektiren Genetik Değişiklikler. aktd. Haziran 2022;31(2):132-146. doi:10.17827/aktd.1059207

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