Prenatal diagnosis and pre‐implantation genetic diagnosis for cancer susceptibility conditions.

This led to a public consultation in 2006 on PGD for later-onset cancer susceptibility conditions, hereditary breast and ovarian cancer associated with BRCA1 and BRCA2 pathogenic variants and Lynch syndrome caused by pathogenic mismatch repair gene variants. Mutation detection in patients with advanced cancer by universal sequencing of cancer-related genes in tumor and normal DNA vs guideline-based germline testing. Multi-gene panel testing has led to identification of individuals with pathogenic variants in cancer susceptibility genes.1 For a minority of these syndromes, risks are well-established and discussion regarding options of pre-implantation genetic diagnosis (PGD) and prenatal diagnosis (PND) has been advocated by healthcare professionals, legal bodies and the public. [Extracted from the article]