Prerequisites for preimplantation genetic diagnosis (PGD in carriers of mutations responsible for hereditary cancers
Abstract
Carriers of hereditary mutations in cancer susceptibility genes represent a limited but high-risk population characterized by a high probability of cancer development, frequently with its manifestation in early age and with a 50% chance of pathogenic allele inheritance by offspring. In case of monogenic disorders, preimplantation genetic diagnosis (PGD) could be used for characterization of the DNA region affected by pathogenic mutation in the early stages of an embryo created by in vitro fertilization (IVF).
Therefore, the transfer of unaffected embryos could be performed based on the results of PGD genotyping, enabling the development of offspring not carrying the pathogenic alteration. AIM: Here we present the consensus of the collaborative group of the Society for Medical Genetics, the Czech Society for Oncology and other professionals for use of PGD in the Czech Republic for carriers of mutations in cancer susceptibility genes.