A Proposed Model to Establish the PGD Technique for Carriers of BRCA1/2 Gene Mutations in a Diagnostic Laboratory

Background: Pre-implantation Genetic Diagnosis (PGD) has recently been introduced as a reproductive choice for individuals who carry a disease-causing BRCA1/2 mutation. Since this technology has not yet been launched for patients at the Cancer Institute of Imam Khomeini Hospital harboring gene mutations that predispose patients to breast cancer, this study aimed to introduce a PGD-based model using a single cell lymphocyte instead of an embryonic blastomere. Methods: Two affected and unrelated women with a known mutation in BRCA1/2 were enrolled in this study. Each patient (together with her siblings) was considered as an embryo derived from a hypothetical couple. Blood samples were collected from these individuals as well as their parents. Linkage analysis was performed. Following this process, a mutation-free individual and a mutation carrier was selected from the first and second family, respectively. A single lymphocyte was then extracted from their freshly taken peripheral blood, and afterwards Nested Multiplex PCR was performed. Results: PGD confirmed that the individual from the first family is free of a mutation and the second one is a pathogenic mutation carrier. Conclusion: Our results suggested that PGD is a viable choice to offer to families with Hereditary Breast Cancer Syndrome , who have been diagnosed with a known pathogenic mutation. Our introduced model can be used as a possible option by other laboratories that are planning to launch this technology.