Expanding Application of Preimplantation Genetic Testing (PGT) for Breast Cancer

Abstract

Preimplantation genetic testing for monogenic disorders (PGT-M) has become an integral part of genetic practices, which is currently applied also to late-onset common disorders with genetic predisposition. Hereditary breast and ovarian cancers (HBOC) are the most frequent among these conditions, caused by mutations in BRCA1/2 genes. While available management strategies may not prevent HBOC in carriers of these genes, avoidance of inheritance of the predisposing genes to their offspring appeared an attractive approach, as PGT for BRCA1/2 genes allows selecting and transferring of embryos free of genetic predisposition to HBOC. The present paper describes the progress in application of PGT for HBOC, with its extended application also to carriers detected through expanded carrier screening (ECS). Presented data are based on our experience of 562 PGT-M cycles for HBOC, resulting in birth of 278 disease predisposition free children, representing one of the world’s largest series of PGT for HBOC, demonstrating an increasing importance of clinical implications of PGT-M as practical option for couples carrying BRCA1/2 predisposing genes.