UNLABELLED: 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.
UNLABELLED: 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.
Authors: D Spitzer; C Corn; J Stadler; B Wirleitner; M Schuff; P Vanderzwalmen; F Grabher; N H Zech Journal: Geburtshilfe Frauenheilkd Date: 2014-10 Impact factor: 2.915
Authors: Jessica L Chan; Lauren N C Johnson; Mary D Sammel; Laura DiGiovanni; Chan Voong; Susan M Domchek; Clarisa R Gracia Journal: J Genet Couns Date: 2016-10-28 Impact factor: 2.537
Authors: Christina N Cordeiro Mitchell; Bailey McGuinness; Eliana Fine; William G Kearns; Mindy S Christianson; James Segars; Lisa M Pastore Journal: J Assist Reprod Genet Date: 2020-03-24 Impact factor: 3.412