Preimplantation genetic testing for carriers of BRCA1/2 pathogenic variants

Petra Vuković, Fedro Alessandro Peccatori, Claudia Massarotti, Manuel Selvi Miralles, Lidija Beketić-Orešković, Matteo Lambertini

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish
Article number103201
JournalCritical Reviews in Oncology/Hematology
Publication statusPublished - Jan 2021


  • BRCA1/2 pathogenic variants
  • Fertility preservation
  • Hereditary breast and ovarian cancer syndrome
  • Oocytes
  • Preimplantation genetic testing for monogenic disorders

ASJC Scopus subject areas

  • Hematology
  • Oncology

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