Archive for the ‘Preimplantation Genetic Diagnosis’ Category

BRCA Gene and Fertility

Will you be able to have children?  Will your children inherit the gene?

Thank you, Angelina Jolie for making your journey the BRCA gene public.

Last week the BRCA gene made its way into our every day water cooler conversations. Now that BRCA has become part of the mainstream media conversation, there are many questions and concerns surrounding the BRCA gene and the affect it has on children. Do I have BRCA? If I test positive for the gene will I still be able to have children? Our Chief, Dr. Avner Hershlag, is dedicated to educating and helping women and men understand the BRCA gene mutation, and wrote this post to clear up any misconceptions you may have regarding the BRCA gene.

The BRCA Gene and Fertility

Many patients are grappling with the new reality presented to them when a BRCA gene mutation is diagnosed. What is BRCA?  Everyone has a BRCA gene.  But a very small change in the gene, called a mutation, (BRCA-1 or BRCA-2) may change the course of your life.  The lifetime chance to develop breast cancer is over 80% and ovarian cancer is over 30%.  There are other cancers that may develop at a higher frequency, such as prostate cancer in BRCA-2 patients.

There’s a lot of talk today in the media about what can be done to prevent breast and ovarian cancer from developing in BRCA positive patients.  Many women choose, like Angelina Jolie, to have a double mastectomy with immediate reconstructive surgery of the breast.  Many plastic surgeons have developed expertise in reconstructing breasts after mastectomy and the results are aesthetically great in most cases.  In addition, women ages 35-40, may choose to remove their ovaries hopefully after completing their family.

Completing their family!  Can that be safely done? What if you’re a young woman diagnosed with breast cancer, and you haven’t started your reproductive life yet?  What if you don’t have cancer but because of your family history you have been tested and found positive for the BRCA gene mutation?

We are now able to help women with the BRCA gene, with or without cancer, take control over their reproductive life. Securing fertility is now possible for BRCA patients, with or without cancer.  If you have been diagnosed with the BRCA gene but don’t have a partner yet who you would like to have children with, or if you are in the midst of pursuing a career and want to defer having children, we can help you achieve these goals even with the presence of the BRCA gene.

For women without a partner, we offer egg freezing.  This requires a short course of treatment with fertility drugs, and eggs are retrieved from your ovaries under anesthesia, in a procedure that lasts no more than 20 minutes on average.   Eggs can be frozen for years, and thawed out when you are ready to have a child, fertilized with your partner’s sperm.  New technologies have allowed for excellence survival of eggs coming out of the “deep freeze,” with good fertilization and pregnancy rates.

For those BRCA patients who have a partner they can undergo a similar procedure but their eggs can be fertilized immediately and frozen as embryos.

Women can therefore secure their fertility before they choose to have their ovaries removed.  Pregnancy can be achieved with frozen eggs or embryos after the ovaries are removed.

But what about the children of patients who carry the BRCA gene mutation?

If you have the BRCA gene mutation, your children whether boys or girls, have a 50% chance to carry the gene.

Through genetic diagnosis of the embryos (PGD-Preimplantation Genetic Diagnosis), we are able to determine which embryos carry the abnormal BRCA gene.  Only BRCA-free embryos will be transferred into your womb, therefore practically guaranteeing that you will not transmit this treacherous gene to your children!  The more patients with the BRCA gene are aware of PGD the less and less women and men will have that gene in generations to come.

The BRCA Gene and Angelina Jolie

For more accurate media coverage on Angelina Jolie and her BRCA journey, please visit the following links. All of these media pieces reached out to Dr. Hershlag to include accurate medical information regarding her course of treatment.

Access Hollywood | Angelina Jolie’s Brace Decision: Stars Show Their Support

E Online | Angelina Double Mastectomy: Natalie Portman’s Doctor Father Praises Actress, Explains BRCA Gene

By: Avner Hershlag, MD- Director of the PGD Program

On the occasion of Breast Cancer Awareness Month, we would like to wish all of our patients who have survived breast cancer, and those who are currently battling breast cancer, a smooth recovery and a long, healthy life.  We’d also like to illuminate some very exciting breakthroughs to help future generations live without the worry of genetic breast cancer. 

 

Genetic breast cancer is transferred through the abnormal BRCA gene, which is responsible for 5-10% of all breast cancer cases under the age of 50.  Through a process known as PGD, or Preimplantation Genetic Diagnosis, we are now able to identify the abnormal BRCA gene in your embryos and transfer to patients only embryos that do not possess the gene. Our specially trained embryologists will remove a cell (or cells) from each viable embryo (embryo biopsy). The genetics lab will determine which embryos do not have the abnormal BRCA gene and only healthy embryos will be transferred into the uterus. 

 

Women who carry the abnormal gene are at an increased risk of breast cancer.  Breast surgeons recommend that women with the abnormal BRCA gene should have a prophylactic double mastectomy.  IVF with PGD offers an alternative for your daughters and even sons.  Instead of having to go through the painful decision and process of having a double mastectomy and breast reconstruction, PGD will allow you to rid your child of the BRCA gene before birth. 

 

More about the BRCA Gene:

•     The BRCA gene is especially common in Ashkenazi Jews (2.5%)

•     BRCA-1 is associated with lifetime risk:

-  1^st Breast Cancer, 50-85%

-  2^nd Breast Cancer, 40-60%

-  Risk of ovarian cancer ranges from 20-45%

-  BRCA-2 gene associated with similar risk

•     It should be noted that male breast cancer occurs in more than 6% of cases

•     We recommend that those with the BRCA gene mutation come in for a consultation to discuss having In-Vitro Fertilization (IVF) with PGD. 

 

 To determine whether you should consider genetic testing for BRCA1 and BRCA2 mutations please click on the following link and scroll down to Q&A #6 http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA 

 

A fascinating development in reproductive technology, PGD now provides an important tool to combat genetic misfortune.  PGD may give you a peace of mind, knowing that you can provide your children with a future for that is free of genetic breast cancer and that you can spare them from the struggles you had to face.