Introduction BRCA1/2 mutation carriers encounter many dilemmas during their life such as when to undergo risk reduction surgeries, how to plan their family, whether to undergo fertility preservation and whether to perform preimplantation genetic testing (PGT) for the selection of non-carrier embryos.

Methods This cross-sectional study was conducted by the distribution of an anonymous questionnaire intended for BRCA1/2 carriers, from August 2022 to January 2023.

Results The questionnaire was completed by 530 BRCA1/2 mutation carriers. The mean (SD) age at mutation detection was 36.4 (9.6) years. At the time of mutation detection, 40% did not have children. Risk reduction bilateral salpingo-oophorectomy (RRBSO) was discussed with 91% of patients and performed in 53%. Following mutation detection, 37% of responders changed their family planning, mostly choosing to have children earlier or to have less children than planned. 28% of BRCA carriers discussed the option of fertility preservation with a physician and 11% underwent oocyte/embryo vitrification before RRBSO. 44% of BRCA carriers discussed the option of PGT and 8% underwent PGT to select non-carrier embryos. In a multivariate analysis, age under 35 years and the a priori need for fertility treatments were both found significant factors increasing the likelihood of performing fertility preservation and PGT.

Conclusion/Implications This study emphasizes that despite high rates of RRBSO performance and a substantial proportion of women admitting that mutation detection affected their family planning, performance of fertility preservation and PGT remained exceedingly low. Increasing the knowledge and awareness of these issues is important and should be included in multidisciplinary counselling.