Preimplantation Genetic Diagnosis for Brca1 and Brca2 Mutations

Abstract

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 suppressor gene 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 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 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)

Keywords

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

Brca1 ve Brca2 Mutasyonları İçin Preimplantasyon Genetik Tanı

Abstract

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. Bu nedenle, BRCA mutasyonu olanlarda PGT uygulanması daha uygun olabilir. Nihayetinde, PGT en azından BRCA mutasyonu olan ve zaten IVF uygulanacak infertil hastalara önerilebilir.

Keywords

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

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