The Impact of BRCA1-and BRCA2 Mutations on Ovarian Reserve Status

Drechsel C. E. Katja*, Van Tilborg C. Theodora, Eijkemans J. C. Marinus, Lentjes G. W. M. Eef, Homminga Irene, Goddijn Mariette, Van Golde J. T. Ron, Verpoest Willem, Lichtenbelt D. Klaske, Broekmans J. M. Frank, Bos M. E. Anna

*Bijbehorende auteur voor dit werk

    OnderzoeksoutputAcademicpeer review

    4 Citaten (Scopus)
    65 Downloads (Pure)


    This study aimed to investigate whether female BRCA1- and BRCA2 mutation carriers have a reduced ovarian reserve status, based on serum anti-Mullerian hormone (AMH) levels, antral follicle count (AFC) and ovarian response to ovarian hyperstimulation. A prospective, multinational cohort study was performed between October 2014 and December 2019. Normo-ovulatory women, aged 18-41 years old, applying for their first PGT-cycle for reason of a BRCA mutation (cases) or other genetic diseases unrelated to ovarian reserve (controls), were asked to participate. All participants underwent a ICSI-PGT cycle with a long-agonist protocol for controlled ovarian hyperstimulation. Linear and logistic regression models were used to compare AMH, AFC and ovarian response in cases and controls. Sensitivity analyses were conducted on BRCA1- and BRCA2 mutation carrier subgroups. Thirty-six BRCA mutation carriers (18 BRCA1- and 18 BRCA2 mutation carriers) and 126 controls, with mean female age 30.4 years, were included in the primary analysis. Unadjusted median AMH serum levels (IQR) were 2.40 (1.80-3.00) ng/ml in BRCA mutation carriers and 2.15 (1.30-3.40) ng/ml in controls (p = 0.45), median AFC (IQR) was 15.0 (10.8-20.3) and 14.5 (9.0-20.0), p = 0.54, respectively. Low response rate was 22.6% among BRCA mutation carriers and 9.3% among controls, p = 0.06. Median number of retrieved oocytes was 9 (6-14) in carriers and 10 (7-13) in controls, p = 0.36. No substantial differences were observed between BRCA1- and BRCA2 mutation carriers. Based on several biomarkers, no meaningful differences in ovarian reserve status were observed in female BRCA mutation carriers compared to controls in the context of ICSI-PGT treatment.

    Originele taal-2English
    Pagina's (van-tot)270–282
    Aantal pagina's13
    TijdschriftReproductive Sciences
    Vroegere onlinedatum15-jun.-2022
    StatusPublished - jan.-2023

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