Breast, ovarian cancer BRCA1 gene mutations may affect fertility; study finds
Research in preclinical models and human tissue samples has shown that women who have a BRCA1 gene mutation may have an increased risk of infertility. This is the same gene mutation that increases the risk of breast and ovarian cancer. Read on to learn more about the study and how gene mutations affect fertility.

Breast, ovarian cancer BRCA1 gene mutation may affect fertility
Genes play an important role in determining the risk of many health problems. Certain genetic mutations can substantially increase the risk of developing specific types of cancer. These mutations can be inherited from our parents, creating a familial connection to disease. In these cases, the presence of a mutated gene can increase the likelihood of cancer.
Recent research on preclinical models and human tissue samples found that women who have a BRCA1 gene mutation may have an increased risk of impaired growth. InfertilityThis gene mutation also 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 increasing the risk of these cancers.
The study was led by researchers at Monash University in Australia and published in EBioMedicine. The research showed that mice that lacked the BRCA1 gene had a decrease in the number and quality of eggs, especially with increasing age.
The BRCA1 deficiency also resulted in a 45 percent reduction in egg maturation rate in reproductive-age mice. In women, measuring levels of anti-Müllerian hormone (AMH) in the blood is considered the gold-standard indirect marker of their egg number.
However, the study found no correlation between AMH levels and the number of estimated eggs from the ovarian tissue of some women with BRCA mutations.
The findings highlighted the need for more studies to better understand whether AMH is a good predictor of egg number in women with BRCA mutations, as this “has implications for women with BRCA mutations”.
Amy Winship, of the university’s Hutt lab, said the results will help women with the mutation “make informed family planning and possibly fertility preservation decisions, such as egg freezing.”
That’s because having BRCA1 already puts women at a higher risk of developing breast and ovarian cancer. Further cancer treatment could impair their fertility, Winship explained.
Another study published in JAMA Oncology states that BRCA1 and BRCA2 gene mutations increase the risk of breast and ovarian cancer not only in women but also in men. The study was conducted by researchers from Fred Hutch Cancer Center and the University of Washington. The researchers have called for increasing screening guidelines for men.
Your risk of developing cancer is high if you test positive for a BRCA mutation. Having a BRCA mutation means you have a 45% to 85% chance of developing breast cancer in your lifetime, as well as a 10% to 46% chance of ovarian cancer.
(With inputs from IANS)
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