BRCA-Mutated Breast Cancer May Negatively Impact Fertility

A recent release from Yale University highlights research from Dr. Kutluk Oktay, a fertility expert, on how BRCA-mutated breast cancer may affect fertility following chemotherapy treatments. His findings suggest that women with BRCA mutations should consider a fertility plan before pursuing treatment.

BRCA-Mutated Breast Cancer

Breast cancer is a type of cancer which originates in breast tissue. It can affect both males and females, but more highly impacts the latter. BRCA-mutated breast cancer occurs because of mutations in the BRCA1 or BRCA2 genes.

Normally, BRCA1 and BRCA2 are tumor-suppressing, particularly for breast and ovarian cancer. But the mutations stop the genes from repairing broken DNA and protecting against cancer. Those with mutated BRCA1 or BRCA2 genes are 5x more likely to develop breast cancer. BRCA1 can cause triple-negative breast cancer. BRCA2 can cause post-menopausal breast cancer. Up to 10% of Ashkenazi Jews carry a BRCA mutation.

Symptoms of breast cancer include breast inflammation, pain in the breast tissue or nipple, breast lumps, discharge, changes in skin (such as scaliness or redness), and skin dimpling. For the latter, think of the skin of an orange. If you notice your breasts dimpling in the same way, you should make an appointment with a doctor. Additionally, people with BRCA mutations should have frequent cancer screenings, MRIs, mammograms, and CT scans from their doctor.

Learn more about BRCA-mutated breast cancer.

Linking BRCA-Mutated Breast Cancer and Infertility

Alongside his research team, Dr. Kutluk Oktay studied 177 females as they pursued chemotherapy to treat breast cancer. Out of the 177, 14 (7.9%) had BRCA-mutated breast cancer. This suggests that the study explored patients with a higher incidence of BRCA-mutated breast cancer than the general population (2-3%).

The study followed patient outcomes over a period of 12, 18, and 24 months. Researchers were tracking how many eggs the women still had available that were viable for pregnancy.

Dr. Kutluk Oktay, MD, PhD, FACOG

In addition to being a fertility specialist, Dr. Oktay is a Professor of Obstetrics & Gynecology and Reproductive Sciences, as well as the Director of Laboratory of Molecular Reproduction and Fertility Preservation at Yale. Additionally, he is the co-chair of the American Society for Clinical Oncology Fertility Preservation Guidelines Committee.

Needless to say, he has been a pioneer within his realm. Prior to this study, Dr. Oktay has formulated innovative solutions to fertility issues. He spearheaded the first ever ovarian transplants, developed ovarian stimulation protocols, and created a process for in vitro fertilization for patients with breast cancer.

Anti-Mullerian Hormone (AMH)

How were researchers able to understand what eggs the patients had left? Well, they tracked anti-mullerian hormone (AMH). The Hormone Health Network describes AMH as a hormone produced by women starting during puberty. AMH is produced by ovarian follicles. Measuring AMH will highlight someone’s fertility level. Additionally, AMH helps with fetal reproductive development.

Low levels of AMH negatively impact fertility. During chemotherapy, AMH levels drop dramatically. This presents a major problem for patients with BRCA mutations who want to get pregnant. This is because BRCA mutations are correlated with lower egg counts to start. Now, researchers also discovered that those with BRCA-mutated breast cancer are less likely to recover, or recover at a much slower rate, after chemotherapy.

According to Dr. Oktay:

“Women with a BRCA mutation have three to four times less recovery of AMH levels.”

So what does this mean for patients with BRCA-mutated breast cancer?

These research findings do not mean that patients with BRCA-mutated breast cancer cannot have children. However, it does make the process slightly more difficult.

If someone with BRCA mutations is interested in having children, there are a few steps that can be taken. First, testing on fertility and AMH levels should be done early. Next, patients should speak to their doctor about potential fertility options. Then, they should make a plan in case they develop breast cancer.

If surgery or chemotherapy is needed to fight breast cancer, patients normally have up to 10 weeks between their diagnosis and the start of chemotherapy. Ovarian stimulation, tissue freezing, or egg harvesting can be done during this time.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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