Related Experiment Video
Updated: Oct 17, 2025
In Vivo and Ex Vivo Approaches to Study Ovarian Cancer Metastatic Colonization of Milky Spot Structures in Peritoneal Adipose
Published on: October 14, 2015
Ovarian reserve of women with and without BRCA pathogenic variants: A systematic review and meta-analysis
Maria Luisa Gasparri1, Rosa Di Micco2, Veronica Zuber3
1Department of Gynecology and Obstetrics, Ospedale Regionale di Lugano EOC, via tesserete 46, 6900 Lugano, Switzerland; Faculty of Biomedical Sciences, Università della Svizzera Italiana, via Giuseppe Buffi 13, 6900, Lugano, Switzerland.
Introduction:
Preliminary clinical evidence suggests a detrimental effect of pathogenic variants of BRCA1 and 2 genes on fertility outcome. This meta-analysis evaluates whether women carrying BRCA mutations (BRCAm) have decreased ovarian reserve, in terms of Anti-Muellerian Hormone (AMH), compared to women without BRCAm (wild-type).
Material And Methods:
Systematic searches of PubMed, Medline, Scopus, Embase, Science Direct and the Cochrane Library from inception until July 2020 were conducted. All studies comparing AMH level in fertile age women, with and without BRCA pathogenic variants were considered. Sub-analyses were performed according to age, presence of breast cancer, and type of mutation.
Results:
Among 64 studies, 10 series were included. For the entire cohort, a trend of reduced AMH level were found between BRCAm carriers and women without pathogenic variants. BRCAm carriers aged 41-years or younger had lower AMH levels compared to 41-years or younger wild type women (OR: 0.73 [95%CI-1.12;-0.35]; p = 0.0002). This finding was confirmed for BRCA1m carriers (OR: 1 [95%CI-1.96;-0.05]; p = 0.004) whereas no difference was observed between BRCA2m carriers and wild type women. The same analysis on breast cancer patients with and without BRCAm achieved the same results.
Conclusion:
Young BRCA1m carriers seem to have lower AMH level compared with wild type women and therefore a potential decreased ovarian reserve.
Insights
Young women with BRCA1 mutations may have reduced ovarian reserve, indicated by lower Anti-Muellerian Hormone (AMH) levels, compared to those without these mutations. This suggests a potential impact on fertility outcomes for BRCA1 carriers.
Area of Science:
- Reproductive Endocrinology
- Genetics
- Oncology
Background:
- Preliminary evidence suggests BRCA1/2 pathogenic variants negatively impact fertility.
- Ovarian reserve is a key factor in female reproductive potential.
Purpose of the Study:
- To evaluate if BRCA mutations (BRCAm) are associated with decreased ovarian reserve.
- To compare Anti-Muellerian Hormone (AMH) levels in women with and without BRCAm.
Main Methods:
- Systematic literature search of multiple databases (PubMed, Scopus, etc.) up to July 2020.
- Included studies compared AMH levels in fertile-age women with and without BRCA pathogenic variants.
- Sub-analyses considered age, breast cancer status, and mutation type.
Main Results:
- A trend of reduced AMH levels was observed in BRCAm carriers versus wild-type women.
- Younger BRCAm carriers (≤41 years) showed significantly lower AMH (OR: 0.73; p=0.0002).
- This effect was significant for BRCA1m carriers but not BRCA2m carriers.
Conclusions:
- Young BRCA1 mutation carriers appear to have diminished ovarian reserve.
- Lower AMH levels in BRCA1 carriers suggest a potential impact on fertility.
