Introduction/Background The clinical impact on fertility in carriers of BRCA1 and BRCA2 mutations remains unclear. Our main objective was to assess the ovarian reserve as measured by circulating antimüllerian hormone (AMH) levels in BRCA1 or BRCA2 mutation carriers, as well as to investigate the impact of AMH levels on reproductive outcomes.
Methodology Prospective observational cohort study carried out in Hospital Universitari de Bellvitge. The inclusion criteria were women aged between 18 and 45 years, proven carries of BRCA1 or BRCA2 gene mutations. Controls were healthy relatives that tested negative for the family mutation. Exclusion criteria were unilateral or bilateral adnexectomy, history of pelvic radiation therapy, cancer, chemotherapy, and refusal to participate in the study. AMH measurements were performed in frozen stored samples collected between January 2005 and November 2009. Between March and June 2018, all patients were contacted by telephone to collect data on reproductive outcomes and epidemiological variables.
Results A total of 135 women divided into three groups: BRCA negative (n=66), BRCA1 positive (n=32), and BRCA2 positive (n=37). The mean age at AMH serum concentration measurement was 32 years in all groups. Local weighted regression (Loess) analysis showed lower AMH levels in BRCA2-positive women (figure 1). Epidemiological variables were assessed at a mean age of 41 years for each group (table 1). Statistically significant differences among groups in parity, infertility, or use of assisted reproductive treatments were not found (table 2). In the multivariable analysis to assess risk factors for infertility (excluding male factor), age at diagnosis of infertility was the only variable independently associated with infertility (OR 1.22, 95% CI 1.11 to 1.36, P<0.001) (figure 2).
Conclusion BRCA2 mutation carriers showed decreased AMH levels, although it does not appear to have clinical impact as reproductive outcome was similar among groups.
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