Genes play an important role in determining the risk of several health issues. Certain genetic mutations can significantly increase the risk of developing specific types of cancer. These mutations can be inherited from our parents, creating a familial link to the disease. In these cases, the presence of a mutated gene may increase the likelihood of cancer.

A recent research in preclinical models and human tissue samples has found that women who have a BRCA1 gene mutation can have an increased risk of impaired infertility. This gene mutation is also the one that increases the risk of breast and ovarian cancer. The BRCA1 and BRCA2 genes are known to protect against breast and ovarian cancer, however, mutations in the BRCA1 and BRCA2 genes are responsible for substantially raising the risk of these cancers.

The study was led by researchers from Monash University in Australia and published in EBioMedicine. The Research showed that mice that have no BRCA1 gene had reduced litter size and quality of eggs, particularly with advancing age.

Egg maturation rates were also decreased by 45 per cent in reproductively aged mice lacking BRCA1. In women, measuring anti-Mullerian hormone (AMH) levels in blood is considered the gold-standard indirect marker of the number of eggs they may have.

However, the study found that AMH levels and estimated egg numbers from ovarian tissues of a small number of women with a BRCA mutation showed no correlation between these measures.

The findings highlighted the need for more studies to better understand if AMH is a good predictor of egg number in women with a BRCA mutation, as this has “implications for women who carry BRCA mutations”.

Amy Winship, from the varsity’s Hutt Laboratory, said the results will help women with the mutations “to make considered family planning and possibly fertility preservation decisions, like egg freezing”.

It is because carrying the BRCA1 makes the women already at higher risk of developing breast and ovarian cancer. Further cancer treatments can worsen their fertility levels, Winship noted.

Another study published in JAMA Oncology said that the BRCA1 and BRCA2 gene mutation not only increases the risk of breast and ovarian cancers in women but also in men. The study was conducted by researchers from the Fred Hutch Cancer Center and the University of Washington. The researchers have called for increasing screening guidelines for males.

The risk of developing cancer is high if you test positive for a BRCA mutation. Having a BRCA mutation means you have a likelihood of 45% to 85% of developing breast cancer in your lifetime, along with a 10% to 46% chance of ovarian cancer.

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