Researchers from New York investigated the relationship between the BRCA1 gene mutation and diminished ovarian reserve. One hundred twenty five female breast cancer patients had their ovaries stimulated with fertility drugs prior to undergoing chemotherapy. Those women were then enrolled in a study with some of them being tested for a BRCA gene mutation and some not. Seventy percent of the women tested did not have a BRCA gene mutation. Thirty percent of the breast cancer patients had a BRCA gene mutation. 

In the patients with the BRCA1 gene mutation, poor ovarian response was significantly higher. This led the researchers to conclude that BRCA1 gene mutations are associated with an early depletion in oocyte reserve. Should this finding be borne out in further studies, it could suggest an explanation for an association between infertility and reproductive cancers.

A mutation in the BRCA1 gene may not mean that much for a man, but could for his daughters. Researchers from Tampa set out to identify how men with the BRCA mutation would respond to the possibility of using preimplantation genetic diagnosis (PGD) to avoid transmitting the BRCA mutation to their offspring.

One hundred seventy five men who either were themselves a carrier for the BRCA mutation or had a family member or partner who was a carrier were surveyed. Seven percent of the men had already used PGD; 60% said they found it an acceptable option for use.

“It is essential that we pay attention to both the science and social aspects of cancer genetics. Studies like these play a vital role in advancing our knowledge on both fronts,” stated Dale McClure, MD, President of the American Society for Reproductive Medicine.

The American Society for Reproductive Medicine, founded in 1944, is an organization of more than 8,000 physicians, researchers, nurses, technicians and other professionals dedicated to advancing knowledge and expertise in reproductive biology. Affiliated societies include the Society for Assisted Reproductive Technology, the Society for Male Reproduction and Urology, the Society for Reproductive Endocrinology and Infertility and the Society of Reproductive Surgeons.


Topics #BRCA Mutation #breast cancer #Ovarian Cancer