Diagnosis of retinoblastoma mutation by both gel electrophoresis and fluorescent fragment analysis.

Preimplantation genetic testing for embryos predisposed to hereditary cancer: Possibilities and challenges

“…17 Li-Fraumeni syndrome ( p53 tumor suppressor gene pathogenic variants), 25 neurofibromatosis type 2, 32 neurofibromatosis type 1, 48 familial adenomatous polyposis coli, 24 and RB are some of the reported autosomal dominant inherited cancer cases in which PGT was used as an alternative preventive option. 7 , 36 , 49 , 50 , 51 , 52 , 53 The developments in IVF, particularly embryo culture techniques in conjunction with the evolution of the freezing processes of the embryos using ultra-rapid freezing or so-called vitrification, have led to a major shift in utilizing day 5 (D5) biopsies instead of day 3 (D3) biopsies. This development facilitates the screening of biopsied embryos by two tests, such as PGT-M and PGT-A, to select the best embryos, thus increasing the pregnancy rate.…”

Preimplantation genetic diagnosis of Von Hippel-Lindau disease cancer syndrome by combined mutation and segregation analysis

“…Many protocols have been developed for performing preimplantation genetic diagnosis (PGD) for autosomal dominantly inherited cancer syndromes including retinoblastoma (Sutterlin et al, 1999;Xu et al, 2001;Rechitsky et al, 2002;Fiorentino et al, 2003;Girardet et al, 2003), Li Fraumeni (Verlinsky et al, 2001, familial adenomatous polyposis coli (Ao et al, 1998), and neurofibromatosis types 1 and 2 (Abou- Sleiman et al, 2002;. Treatment of most cancer syndromes includes aggressive and invasive surveillance procedures, and drastic surgeries may be necessary to increase life expectancy.…”