BRCA1 Gene Mutation Is Linked to Women Having Fewer Eggs in Their Ovaries

Researchers have discovered a link between the BRCA1 gene mutation and lower levels of a hormone that is an indicator of the number of eggs left in a woman’s ovaries, according to research published online on April 19, 2016 in Human Reproduction, one of the world’s leading reproductive medicine journals. The open-access article is titled “Anti-Müllerian Hormone Serum Concentrations of Women with Germline BRCA1 or BRCA2 Mutations.” In the first large study looking at BRCA1 and BRCA2 genetic mutations and levels of anti-Müllerian hormone (AMH) in women who carry the mutated genes, the group of international researchers found that carrying the BRCA1 mutation was associated with AMH concentrations that were, on average, 25% lower than those in non-carriers. The effect was not seen in women with the BRCA2 mutation. Professor Kelly-Anne Phillips, a consultant medical oncologist at the Peter MacCallum Cancer Centre in East Melbourne (Victoria, Australia) and the first author of the study, said: “This means that women in their mid-30s, who carry the BRCA1 mutation, have, on average, ovarian reserves similar to those of non-carriers who are two years older.” Although AMH is a reliable marker of ovarian reserve, Professor Phillips said: “It’s important to remember that AMH is only one indicator of a woman’s potential fertility; the ability to conceive and carry a baby to full term is affected by many other factors as well, including egg quality and whether the fallopian tubes are unobstructed, neither of which is measured by AMH. Women with low AMH levels can sometimes still have a baby and, conversely, women with high AMH levels are sometimes unable to do so.
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