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Vuković, Petra; Peccatori, Fedro Alessandro; Massarotti, Claudia; Miralles, Manuel Selvi; Beketić-Orešković, Lidija; Lambertini, Matteo
Critical reviews in oncology/hematology, January 2021, 2021-Jan, 2021-01-00, 20210101, Volume: 157Journal Article
Display omitted •Data on clinical implications of BRCA pathogenic variants on female reproductive potential are conflicting.•Preimplantation genetic testing for monogenic disorders (PGT-M) allows avoiding transmittance of pathogenic variants.•PGT-M for BRCA carriers is valuable option, but remains controversial and underdiscussed.•Despite PGT technologies have improved pregnancy rate, several important challenges exist with its use.•More efforts are needed to improve PGT techniques and implementation for BRCA carriers. The detection of germline BRCA1/2 pathogenic variant has relevant implications for the patients and their family members. Family planning, prophylactic surgery and the possibility of preimplantation genetic testing for monogenic disorders (PGT-M) to avoid transmittance of pathogenic variants to the offspring are relevant topics in this setting. PGT-M is valuable option for BRCA carriers, but it remains a controversial and underdiscussed topic. Although the advances in PGT technologies have improved pregnancy rate, there are still several important challenges associated with its use. The purpose of this review is to report the current evidence on PGT-M for BRCA1/2 carriers, ethical concerns and controversy associated with its use, reproductive implications of BRCA pathogenic variants, underlying areas in which an educational effort would be beneficial as well as possibilities for future research efforts in the field.
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