Ankara Üniversitesi Tıp Fakültesi Mecmuası

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Ankara University

Surgical Diseases Nursing

Cerrahi Hastalıklar Hemşireliği

Preimplantation Genetic Diagnosis for Brca1 and Brca2 Mutations

Brca1 ve Brca2 Mutasyonları İçin Preimplantasyon Genetik Tanı

https://orcid.org/0000-0003-0815-3522

Şükür

Yavuz Emre

https://orcid.org/0000-0002-4504-669X

Özmen

Batuhan

ANKARA UNIVERSITY, SCHOOL OF MEDICINE, DEPARTMENT OF SURGICAL MEDICAL SCIENCES, DEPARTMENT OF OBSTETRICS AND GYNAECOLOGY

https://orcid.org/0000-0003-0264-0709

Atabekoğlu

Cem Somer

ANKARA UNIVERSITY, SCHOOL OF MEDICINE, DEPARTMENT OF SURGICAL MEDICAL SCIENCES, DEPARTMENT OF OBSTETRICS AND GYNAECOLOGY

10 20 2016

69 2 133 136 07 13 2015 07 11 2016

1947

Ankara Üniversitesi Tıp Fakültesi Mecmuası

Hereditary breast and ovarian cancer syndrome is an inherited cancer-susceptibility syndrome with multiple family members with breast cancer or ovarian cancer or both, the presence of both breast cancer and ovarian cancer in a single individual, and early age of breast cancer onset. BRCA1 and BRCA2 tumor suppressorgene mutations are responsible for the vast majority of inheritance of breast and ovarian cancers. Approximately 10% of ovarian cancer patients and approximately 3-5% of breast cancer patients have predominating BRCA1 and BRCA2 gene mutations. Preimplantation genetic diagnosis (PGD) is an alternative toconventional prenatal diagnostic techniques such as amniocentesis and chorionic villus sampling. Prenatal diagnosis for BRCA mutation in an ongoing pregnancy and pregnancy termination brings some ethical and psychological questions together. Hence, it may be favorable to perform PGD for patients with BRCA mutations. Eventually, PGD may be recommended at least to the infertile patients with BRCA mutation who should already undergo in vitro ifertilization IVF (in vitro fertilization)

Herediter meme ve over kanseri sendromu meme, over veya her ikisinin birden kanserine sahip birden fazla aile üyesinin bulunduğu, bir bireyde hem meme hem de over kanserinin görüldüğü, ve erken bașlangıçlı meme kanseri görülen kalıtsal bir kanser yatkınlık sendromudur. Meme ve over kanseri kalıtımının büyük çoğunluğundan BRCA1 ve BRCA2 tümör süpresör gen mutasyonları sorumludur. Over kanserlerinin yaklașık %10’unda ve meme kanserlerinin yaklașık %3-5’inde büyük oranda BRCA1 ve BRCA2 mutasyonları görülür. Preimplantasyon genetic tanı (PGT) amniyosentez ve koryon villüs örneklemesi gibi geleneksel prenatal tanı tekniklerinin bir alternatifidir. Devam etmekte olan bir gebelikte BRCA mutasyonunun prenatal teșhis edilmesi ve gebeliğin sonlandırılması konusu beraberinde bazı etik ve psikolojik soruları da tașımaktadır. Bunedenle, BRCA mutasyonu olanlarda PGT uygulanması daha uygun olabilir. Nihayetinde, PGT en azından BRCA mutasyonu olan ve zaten IVF uygulanacak infertil hastalara önerilebilir.

BRCA1/2 Mutations; Hereditary Breast and Ovarian Cancer; in Vitro Fertilization; Preimplantation Genetic Diagnosis

BRCA1/2 Mutasyonları; Herediter Meme ve Over Kanseri; in Vitro Fertilizasyon; Preimplantasyon Genetik Tanı

1. Verlinsky Y, Rechitsky S, Verlinsky O, et al. Preimplantation diagnosis for sonic hedgehog mutation causing familial holoprosencephaly. N Engl J Med. 2003; 348: 1449-1454.

2. Harper JC, Bui TH. Pre-implantation genetic diagnosis. Best Pract Res Clin Obstet Gynaecol 2002; 16: 659-670.

3. Verlinsky Y, Rechitsky S, Verlinsky O, et al. Preimplantation diagnosis for earlyonset Alzheimer disease caused by V717L mutation. JAMA. 2002; 287: 1018-1021.

4. Spits C, De Rycke M, Van Ranst N, et al. Preimplantation genetic diagnosis for cancer predisposition syndromes. Prenat Diagn 2007; 27: 447-456.

5. Menon U, Harper J, Sharma A, et al. Views of BRCA gene mutation carriers on preimplantation genetic diagnosis as a reproductive option for hereditary breast and ovarian cancer. Hum Reprod 2007; 22: 1573-1577.

6. Robertson JA. Extending preimplantation genetic diagnosis: the ethical debate. Ethical issues in new uses of preimplantation genetic diagnosis. Hum Reprod 2003; 18: 465-471.

7. Slattery ML, Kerber RA. A comprehensive evaluation of family history and breast cancer risk. JAMA 1993; 270: 1563-1568.

8. Claus EB, Risch NJ, Thompson WD. Age at onset as an indicator of familial risk of breast cancer. Am J Epidemiol 1990; 131: 961-972.

9. Risch HA, McLaughlin JR, Cole DE, et al. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. J Natl Cancer Inst. 2006; 98: 1694-1706.

10. Rubin SC, Blackwood MA, Bandera C, et al. BRCA1, BRCA2, and hereditary nonpolyposis colorectal cancer gene mutations in an unselected ovarian cancer population: relationship to family history and implications for genetic testing. Am J Obstet Gynecol 1998; 178: 670-677.

11. Copeland LJ. Epithelial Ovarian Cancer. In: Disaia PJ, Creasman WT. Clinical Gynecologic Oncology. Philadelphia, Mosby Elsevier Press, 2007; 313-367.

12. Struewing JP, Hartge P, Wacholder S, et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med. 1997; 336: 1401-1408.

13. Knudson AG Jr. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971; 68: 820-823.

14. Whittemore AS, Gong G, Itnyre J. Prevalence and contribution of BRCA1 mutations in breast cancer and ovarian cancer: results from three U.S. population-based casecontrol studies of ovarian cancer. Am J Hum Genet 1997; 60: 496-504.

15. 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: 1117-1130.

16. King MC, Marks JH, Mandell JB. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. New York Breast Cancer Study Group. Science 2003; 302: 643-646.

17. Metcalfe KA, Lynch HT, Ghadirian P, et al. The risk of ovarian cancer after breast cancer in BRCA1 and BRCA2 carriers. Gynecol Oncol 2005; 96: 222-226.

18. Lakhani SR, Manek S, Penault-Llorca F, et al. Pathology of ovarian cancers in BRCA1 and BRCA2 carriers. Clin Cancer Res 2004; 10: 2473-2481.

19. Levine DA, Argenta PA, Yee CJ, et al. Fallopian tube and primary peritoneal carcinomas associated with BRCA mutations. J Clin Oncol 2003; 21: 4222-4227.

20. Staton AD, Kurian AW, Cobb K, et al. Cancer risk reduction and reproductive concerns in female BRCA1/2 mutation carriers. Fam Cancer 2008; 7: 179-186.

21. Jasper MJ, Liebelt J, Hussey ND. Preimplantation genetic diagnosis for BRCA1 exon 13 duplication mutation using linked polymorphic markers resulting in a live birth. Prenat Diagn 2008; 28: 292-298.

22. Sagi M, Weinberg N, Eilat A, et al. Preimplantation genetic diagnosis for BRCA1/2-a novel clinical experience. Prenat Diagn 2009; 29: 508-513.