BRCA1 and BRCA2 Mutations and Female Fertility

Female carriers of a BRCA1 or BRCA2 mutation are at an increased risk of developing breast and ovarian cancer. In addition, they have a 50-percent chance of passing the mutation on to their children. In order to prevent this from happening, such women may choose to undergo IVF, followed by genetic testing of the embryos (PGD). An American study has shown that women carrying a BRCA1 mutation tend to produce fewer egg cells following ovarian stimulation than women who did not carry the mutation. This may point at a reduced ovarian reserve, which in turn may mean that women carrying a BRCA1 mutation may be less likely to have a successful IVF/PGD procedure.

The objective of this study is to verify whether women carrying a BRCA1 or BRCA2 mutation do indeed have reduced ovarian reserve, and if so, why, and whether this fact is likely to affect the quality of their embryos.

Couples where either the male or the female partner is a carrier of a BRCA1 or 2 mutation will be asked to take part in this study. We will collect these couples’ immature ova, unfertilised ova and embryos which carry the mutation and therefore cannot be implanted, and will use them for analyses which will provide us with a better understanding of the effect of the mutation on female fertility and embryonic quality.

Supervisors: prof. Christine de Die-Smulders, Rien Blok, PhD
Research team: Rita Brandão, PhD, Aafke van Montfoort, PhD, Josien Derhaag, PhD