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BRCA Mutation Carriers

Specific Services and Active Studies for BRCA Mutation Carriers:

Our center offers different levels of service to BRCA-mutation carriers with or without cancer who are concerned about their future fertility and ovarian function.

Ovarian Reserve Testing

For those who are BRCA carriers and have not developed cancer and have not undergone prophylactic ovary removal our Center offers ovarian reserve assessment. Our recent research published in the prominent medical journal Science Translational Medicine showed that women with BRCA mutations may have lower ovarian reserve and hence they may lose their fertility at a younger age. In our center we assess ovarian reserve by a sensitive serum test called Anti-Mullerian Hormone (AMH) as well as by counting small ovarian follicles by ultrasound examination (called antral follicle index). Women who are found to have low ovarian reserve and those who plan to delay childbearing can undergo egg or embryo freezing by a method developed by us. The latter method uses letrozole which prevents estrogen levels increasing to very high levels during ovarian stimulation. We have published numerous studies showing the safety and effectiveness of this approach.

Preventive Ovarian Tissue Freezing

For those who are contemplating prophylactic oophorectomy before the age of 40, we have developed ovarian freezing and transplantation techniques. With this approach, ovarian tissue can be removed with an outpatient procedure, cryopreserved at an early age when the risk of ovarian cancer is low. Having early removal of ovaries may also reduce the risk of breast cancer. This can also be done if breast cancer develops at an early age and chemotherapy treatments threaten ovarian reserve and future fertility. In the future, when the patient is ready for childbearing, ovarian tissue can be transplanted back using a robotic/laparoscopic technique also developed by Dr. Oktay as a same day procedure. In theory, this might help suspend the risk of cancer at the age when the ovarian tissue is frozen. For example, if your ovary is frozen at age 30 and you have the tissue transplanted back at age 45, we expect the risk of ovarian cancer to be at “30-years-of-age” level after the transplant. We are conducting a prospective ovarian freezing and transplantation study and BRCA patients can participate in the study if they wish to.

Safer Embryo/Oocyte Freezing Protocols

For those BRCA carriers who developed breast cancer before completing their family and who are going to receive chemotherapy which commonly affects fertility, our Center offers oocyte, embryo and ovarian freezing as also explained above. For ovarian stimulation, we use letrozole along with fertility drugs, which keeps estrogen levels at or close to normal levels during ovarian stimulation. Even with estrogen receptor positive cancer, high estrogen levels are of concern. We have successfully frozen embryos and oocytes from many young breast cancers, many with BRCA mutations and pregnancy rates are in excess of 60% per embryo transfer. As an alternative method, ovarian tissue can also be cryopreserved to preserve fertility, as explained above. You may find useful videos on these topics here. Because women with BRCA mutations are deficient in DNA repair and because we shoed that DNA repair is important in keeping eggs alive with environmental and chemotherapy induced DNA damage, BRCA carriers may lose their fertility at a faster rate after chemotherapy. This further underscores the importance of fertility preservation.

BRCA Gene Mutation Screening in Embryos (PGD)

For those who wish to not to pass on the BRCA gene, our center also offers prenatal genetic diagnosis method from embryos. With this method, you undergo ovarian stimulation and IVF with our letrozole protocol. One or two cells are removed from the resulting embryos for BRCA mutations. At the same time chromosome numbers and gender can also be tested. We then select the desired “normal” embryos for transfer to your uterus (embryo transfer).

Egg Donation

For those who have already undergone prophylactic ovary removal or have suffered early menopause because of chemotherapy, egg donation is available. As long as your uterus is healthy, normal pregnancies can be achieved even without the presence of ovaries. By providing estrogen and progesterone hormones in a manner similar to the production of a healthy ovary, pregnancies can be supported after in vitro fertilization with donated eggs. This can be done up to the age of 55 or later if there are no other health issues.

Infertility Treatments for Low Egg Reserve

In some cases your ovarian reserve maybe reduced due to past chemotherapy and/or age and may need ovarian stimulation for increasing your likelihood of fertility. In our Center we again use the letrozle and other protocols specifically tailored for the needs of BRCA carriers and breast cancer patients.

Risk Reducing Salpingo Oophorectomy

We are extremely experienced in laparoscopic and robotic surgery and can perform your prophylactic surgery here at Innovation Institute for Fertility Preservation. Patients can receive fertility, reproductive endocrinology and menopause advice and treatment at the same time.

Research Studies for BRCA Mutation Carriers

The medical director of our Center Kutluk Oktay, MD is supported by various research grants from the National Institutes of Health. He is currently studying the ovarian function of BRCA mutation carriers. We are interested in volunteers who are 40 years of age and younger and still have normal periods. Those who are considering prophylactic ovary removal as well as those who have developed cancer but have not received treatment are also welcome. You can contact us at This email address is being protected from spambots. You need JavaScript enabled to view it. or 1(877)49-BE-MOM (4923666) or find us at www.fertilitypreservation.org or i-fertility.net.

 

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