Study reveals high fertility risks for women with BRCA1 gene mutation

Research from Monash University in Australia has uncovered that women carrying the BRCA1 gene mutation, known for increasing the risk of breast and ovarian cancer, also face a heightened risk of impaired fertility. This finding comes from studies conducted on both preclinical models and human tissue samples.

The BRCA1 and BRCA2 genes are typically protective against breast and ovarian cancer. However, mutations in these genes significantly raise the likelihood of developing these cancers. The recent study highlights another critical concern for women with the BRCA1 mutation: their fertility.

In preclinical models, mice lacking the BRCA1 gene exhibited a reduced litter size and poorer quality of eggs, especially as they aged. The study noted a substantial decrease, with egg maturation rates falling by 45% in reproductively aged mice without the BRCA1 gene.

For women, the anti-Mullerian hormone (AMH) level in blood is commonly used as an indirect measure of their egg count. However, the study found no correlation between AMH levels and estimated egg numbers from ovarian tissues in a small cohort of women with a BRCA mutation. This revelation, published in EBioMedicine, suggests that AMH may not be a reliable predictor of egg quantity for women with the BRCA mutation, underscoring the necessity for further research.

Amy Winship from Monash University’s Hutt Laboratory emphasized the significance of these findings for women with BRCA mutations. “The results will help women with the mutations to make considered family planning and possibly fertility preservation decisions, like egg freezing,” she said. Given the increased cancer risk associated with the BRCA1 mutation, women may face further fertility challenges due to cancer treatments, which can adversely affect fertility.

This research brings to light a crucial aspect of health for women with BRCA mutations, offering them the opportunity to make informed decisions about their reproductive futures.