Controversy exists about the impact of BRCA1/2 mutations on female fertility. Previous studies are small or based on indirect parameters (eg, self-reported infertility), which depend on additional factors unrelated to true fertility potential. Most of the previous studies did not use strict fertility markers.
Objective: The aim of this study is to evaluate the relation between carrying a BRCA1/2 mutation and fertility using the level of anti-müllerian hormone (AMH), which has been previously shown to be an accurate marker of ovarian reserve and fertility potential.
Patients and Methods: Forty-one healthy BRCA1/2 mutation carriers, aged 26 to 40 years, attending a multidisciplinary breast and ovarian cancer surveillance clinic, were tested for AMH levels using a 2-site ELISA. Levels were compared with those of our general population and with well-established normograms of the general population.
Results: The mean age of carriers was 33.2 years (26–39 years; SD, 3.99 years). The mean parity of carriers was 1.97 (0–7; SD, 1.49). All women carried at least 1 Ashkenazi Jewish founder mutation. The AMH levels for most carriers were in the reference range, 2.71 ± 0.59 ng/mL (approximately 50th percentile of normograms). These levels were similar to those in the control group, in which the AMH levels were 2.02 ± 0.12 ng/mL (P = 0.27).
Conclusions: The AMH levels of healthy BRCA1/2 mutation carriers are similar to those of noncarrier women matched for age; therefore, their ovarian reserve is comparable. This is the only study, to the best of our knowledge, that directly examines ovarian reserve in a relatively large group of carriers with an accurate marker. The results of this study may possibly give reassurance to female carriers concerning fertility potential.
*Noga BRCA Carrier Surveillance Clinic, †Department of Gynecology, and ‡Medical Genetics Institute, Shaare Zedek Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel.
Address correspondence and reprint requests to Rachel Michaelson-Cohen, MD, Department Gynecology and Medical Genetics Institute, Shaare Zedek Medical Center, Hebrew University of Jerusalem, PO Box 3235 Jerusalem 91031, Israel. E-mail: email@example.com.
This study was supported by a generous yearly gifting, over 5 years, to the Noga Carrier Clinic at the Shaare Zedek Medical Center byJack Klein, in memory of his dear wife, Elisa Klein.
The authors declare no conflicts of interest.
Received August 7, 2013
Received in revised form November 4, 2013
Accepted November 4, 2013