Cem Somer ATABEKO?LU, Yavuz Emre ?ÜKÜR, Batuhan ÖZMEN

Preimplantation Genetic Diagnosis for Brca1 and Brca2 Mutations

Herediter meme ve over kanseri sendromu meme, over veya her ikisinin birden kanserine sahip birden fazla aile üyesinin bulundu?u, bir bireyde hem meme hem de over kanserinin görüldü?ü, ve erken baLlangÖçlÖ meme kanseri görülen kalÖtsal bir kanser yatkÖnlÖk sendromudur. Meme ve over kanseri kalÖtÖmÖnÖn büyük ço?unlu?undan BRCA1 ve BRCA2 tümör süpresör gen mutasyonlarÖ sorumludur. Over kanserlerinin yaklaLÖk %10'unda ve meme kanserlerinin yaklaLÖk %3-5'inde büyük oranda BRCA1 ve BRCA2 mutasyonlarÖ görülür. Preimplantasyon genetic tanÖ (PGT) amniyosentez ve koryon villüs örneklemesi gibi geleneksel prenatal tanÖ tekniklerinin bir alternatifidir. Devam etmekte olan bir gebelikte BRCA mutasyonunun prenatal teLhis edil- mesi ve gebeli?in sonlandÖrÖlmasÖ konusu beraberinde bazÖ etik ve psikolojik sorularÖ da taLÖmaktadÖr. Bu nedenle, BRCA mutasyonu olanlarda PGT uygulanmasÖ daha uygun olabilir. Nihayetinde, PGT en azÖndan BRCA mutasyonu olan ve zaten IVF uygulanacak infertil hastalara önerilebilir

Brca1 ve Brca2 MutasyonlarÖ gçin Preimplantasyon Genetik Tanı

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 ova- rian cancer in a single individual, and early age of breast cancer onset. BRCA1 and BRCA2 tumor suppressor gene mutations are responsible for the vast majority of inheritance of breast and ovarian cancers. App- roximately 10% of ovarian cancer patients and approximately 3-5% of breast cancer patients have predomi- nating BRCA1 and BRCA2 gene mutations. Preimplantation genetic diagnosis (PGD) is an alternative to conventional 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 muta- tions. Eventually, PGD may be recommended at least to the infertile patients with BRCA mutation who sho- uld already undergo in vitro ifertilization IVF (in vitro fertilization).

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