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Updated: Mar 3, 2026
Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
Published on: February 17, 2011
Antimüllerian hormone levels are lower in BRCA2 mutation carriers
Lauren Johnson1, Mary D Sammel2, Susan Domchek3
1Division of Reproductive Endocrinology and Infertility, Hospital of the University of Pennsylvania, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania; Reproductive Endocrinology Associates of Charlotte, Charlotte, North Carolina.
Objective:
To compare antimüllerian hormone (AMH) levels in women at high risk for hereditary breast and ovarian cancer compared with healthy low-risk control women.
Design:
Prospective cohort.
Setting:
Not applicable.
Patient(S):
Reproductive-age women with a uterus and both ovaries were analyzed in four groups: BRCA1 mutation carriers, BRCA2 carriers, BRCA-negative women, and low-risk controls.
Intervention(S):
Self-collected dried blood spot.
Main Outcome Measure(S):
AMH levels.
Result(S):
One hundred ninety-five women were included: 55 BRCA1 carriers, 50 BRCA2 carriers, 26 BRCA negative women, and 64 low-risk controls. After adjusting for confounders, BRCA2 carriers had AMH levels that were 33% lower than control women and an increased odds of having AMH <1 ng/mL. BRCA1 carriers and BRCA-negative women had AMH levels similar to control women. When analysis was restricted to regularly menstruating women younger than 40 years of age, BRCA2 carriers continued to demonstrate significantly lower AMH levels and increased likelihood of low AMH. Also, in this restricted group, BRCA-negative women demonstrated AMH levels that were 42% lower than control women. No difference in AMH was observed for BRCA1 carriers.
Conclusion(S):
We observed significantly lower AMH levels among BRCA2 carriers compared with low-risk control women. These results were stable across all models. BRCA-negative women also had lower AMH values, but only in models restricted to young regularly menstruating women. In contrast to earlier analyses, BRCA1 carriers had AMH values that were similar to low-risk control women, but this may be due to differences in the population studied.
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