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The Breast Cancer Gene and Infertility


by Rachel Lehmann-Haupt, Dec. 21, 2009

Infertility may in fact be genetic. A new study published in The Journal of Clinical Oncology has found that the mutation in the BRCA1 gene, which is associated with early onset breast cancer, is also connected with a smaller egg reserve in women who have the gene.

“Historically we’ve known that infertile women had a higher risk for breast and ovarian cancer, especially women who delayed childbearing” says Dr. Kutluk Octay, the Director of Westchester Medical Center’s Division of Reproductive Medicine and Infertility. “We knew there was a connection, but no one really knew why and this is the first study that shows a genetic link.”

Dr. Oktay’s team looked at 126 women who went through ovarian stimulation in order to cryopreserve their eggs and embryos. Forty-seven women in the group had been tested for the BRCA1 gene and fourteen had discovered that they carried the mutation. The women who carried the gene had a much lower rate of ovarian response and produced a lower number of eggs compared to the women who didn’t carry the gene or who had not been tested. Studies have found that one in every 100 women carry the BRCA1 mutation.

“The implications are immense," says Dr. Oktay. "Finding a common path for cancer and infertility may lead to a better understanding of how ovaries age and unexplained infertility,” he said. “For those who may have the gene and undergo early screening, it may help them consider having children sooner or freezing embryos or eggs.”

Rachel Lehmann-Haupt ( is a journalist and the author of In Her Own Sweet Time: Unexpected Adventures in Finding Love, Commitment and Motherhood (Basic Books, 2009).