*Noga BRCA Carrier Surveillance Clinic, †Department of Gynecology, and ‡Medical Genetics Institute, Shaare Zedek Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel.
Int J Gynecol Cancer. 2014 Feb;24(2):233-7. doi: 10.1097/IGC.0000000000000058.
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.
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.
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.
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).
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.
本研究旨在通过抗苗勒管激素（AMH）水平评估携带 BRCA1/2 突变与生育力的关系，此前的研究表明 AMH 是卵巢储备和生育力潜能的准确标志物。
41 名年龄在 26 至 40 岁之间的健康 BRCA1/2 突变携带者，在参加多学科乳腺癌和卵巢癌监测诊所时，使用 2 点 ELISA 检测 AMH 水平。将水平与我们的一般人群进行比较，并与一般人群的既定标准进行比较。
携带者的平均年龄为 33.2 岁（26-39 岁；SD，3.99 岁）。携带者的平均产次为 1.97（0-7；SD，1.49）。所有女性均携带至少 1 种阿什肯纳兹犹太创始人突变。大多数携带者的 AMH 水平处于参考范围，为 2.71±0.59ng/ml（约为标准曲线的第 50 个百分位）。这些水平与对照组相似，对照组的 AMH 水平为 2.02±0.12ng/ml（P=0.27）。
BRCA1/2 突变携带者的 AMH 水平与年龄匹配的非携带者女性相似；因此，她们的卵巢储备能力相当。据我们所知，这是唯一一项使用准确标志物直接检查相对较大携带者组卵巢储备的研究。这项研究的结果可能会让女性携带者对生育能力感到放心。
