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
References
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