A PGD-based Model for BRCA1/2 Gene Mutations Using a Single Cell Lymphocyte

  • Elmira Ebrahimi
  • Reza Shirkoohi
  • Maryam Abiri
  • Solmaz Sabeghi
  • Kiyana Sadat Fatemi
  • Samira Dabagh Bagheri
  • Sirous Zeinali
  • Saeid Amanpour
Keywords: Hereditary Breast Cancer Syndrome, BRCA1/2, Pre-implantation Genetic Diagnosis


Background: Pre-implantation Genetic Diagnosis (PGD)  has recently been introduced as a reproductive choice for individuals who carry a disease-causing BRCA1/2 mutation. While in Cancer Institute of Imam Khomeini Hospital this technology has not yet launched for patients harboring breast cancer predisposition gene mutations therefore, 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 were supposed as embryos 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 the second family, respectively.  A single lymphocyte was then extracted from their freshly taken peripheral blood and then anonymously sent to Kawsar Laboratory to do preimplantation genetic testing. Results: PGD confirmed that the individual from the first family is free of a mutation and the second one is certainly a pathogenic mutation carrier. Conclusions: Our results suggested that PGD is a viable choice to offer to families with "Hereditary Breast Cancer Syndrome", who were diagnosed with a known pathogenic mutation. Our introduced model may possibly use as an option by other laboratories that are planning to launch this technology.


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How to Cite
Ebrahimi E, Shirkoohi R, Abiri M, Sabeghi S, Fatemi KS, Dabagh Bagheri S, Zeinali S, Amanpour S. A PGD-based Model for BRCA1/2 Gene Mutations Using a Single Cell Lymphocyte. BCCR. 11(1).
Original Articles