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 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).

Keywords: BRCA1/2 Mutations; Hereditary Breast and Ovarian Cancer; in Vitro Fertilization; Preimp-lantation Genetic Diagnosis