CJG Blog

Center for Jewish Genetics blog

A Personal Mission to Raise Awareness About BRCA Mutations

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BRCA1and2

A Sarnoff Center Associate Board member on learning about BRCA and why it's important to educate our community:

I found out about the existence of the BRCA mutation when I was 21, which is the exact same time that I found out it runs in my family. I had previously known that one of my family members had breast cancer at a relatively young age, but it never occurred to me before then that there could be a genetic predisposition running through my DNA.

When I first heard the news about my family carrying instances of BRCA, it was because my cousin was going through genetic testing for it. She knew that her side of the family carried it, and wanted to find out sooner rather than later so she could take the appropriate steps given the outcome. What really struck me was her attitude about it–she knew that if she tested positive, she would get a mastectomy as soon as possible after that and that would be it. Her
courage is something that really stuck with me–and then I started asking my own parents questions.

As it turned out, my dad had never been tested for a mutation in the BRCA genes. This sparked a debate about who should get tested first, and even though he’s deathly afraid of needles, my dad got voted into the genetic counselor’s office first. Luckily, he tested negative for a BRCA mutation. My mom isn’t biologically Jewish, so the chances that my brother or I have the mutation are slim. We’ll both be tested soon, but for now we are breathing a little easier.

What shocks me is how many women my age (26) don’t know about the BRCA mutation. Even with celebrities like Angelina Jolie getting elective double mastectomies, or organization like the Sarnoff Center and Bright Pink spreading the word, it seems that more Jewish women don’t know about the mutation than do. And it’s important–your chances of getting breast and/or ovarian cancer with the BRCA mutation are way too high for comfort.

Just this past year, a woman my age in Chicago got a double mastectomy after hearing that she had the BRCA mutation. I am so, so proud of her for sharing her story and educating others. I know that she has helped spread awareness like crazy, especially through sharing her journey on social media.

I’m proud to be on the associate board of the Norton and Elaine Sarnoff Center for Jewish Genetics because our community needs to know about genetic diseases that can affect their lives. I’m committed to spreading the word about the BRCA mutation and other Jewish genetic diseases because I want to see people live long, healthy, joyful lives.

Photo credit: National Human Genome Research Institute

October Awareness Months

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October is Breast Cancer Awareness Month and Gaucher Disease Awareness Month. And while these diseases do not have much (if anything) in common, they’re both near and dear to our hearts here at the Sarnoff Center. Hereditary breast cancer and Gaucher disease each have a Jewish connection, occurring more frequently among Ashkenazi Jews than in the general population.

While a relatively small percentage of breast cancer is hereditary, inherited mutations have a major impact on affected families. BRCA mutations – which are the most common cause of hereditary breast cancer – significantly increase lifetime risk of breast cancer in both men and women. BRCA mutations are also linked to increased risk of ovarian cancer, prostate cancer, pancreatic cancer, and melanoma. 1 in 40 Ashkenazi Jews carries a BRCA mutation compared to about 1 in 400 in the general population.

What can you do? Learn your family health history and share it with your doctor. A physician or genetic counselor can use that information to help you better understand your risk and, if necessary, explain options for reducing it.

Like BRCA mutations, Gaucher disease is also increased among Jews. In fact, Gaucher disease type 1 is the most common inherited Jewish genetic disorder, according to the National Gaucher Foundation. Unlike hereditary cancers, Gaucher disease is inherited in an autosomal recessive fashion. As with other recessive conditions, carriers of Gaucher disease do not have symptoms and both partners in a couple must be carriers in order for there to be a risk of having an affected child.

Individuals affected with Gaucher disease lack an enzyme that helps break down certain fatty substances in the body, which can cause complications related to the liver, spleen, blood, and bones. While there currently is no cure for Gaucher, treatment can help manage symptoms and improve quality of life.

As October comes to a close, take the time to educate yourself about hereditary breast cancer and Gaucher disease and learn about the resources available in our community. You can find tools to collect your family health history and information about cancer risk factors on our website. For more information about Gaucher, visit gaucherdisease.org. Couples planning for a family can learn their carrier status by completing the Sarnoff Center’s subsidized genetic counseling and screening program, which currently screens more than 190 recessive disorders.

 

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We are proud to announce that our Carrier Screening Program is open with our new medical provider Insight Medical Genetics (IMG). Visit our Get Screened page to learn more about our program and how to register!

CJG-Whats-In-Your-Genes

Do You Know What's In Your Genes?

What is the most valuable gift you can give to your family? The gift of good health! There are many health conditions that run in families. Knowing your family health history can alert you to the potential risk for a variety of genetic disorders . Be sure to check with your relatives for warning signs and assess your risk for hereditary cancers!

Did you know: Ashkenazi Jews are 10 TIMES more likely to have BRCA mutations, which significantly increases lifetime risks for hereditary cancers, so what does this heightened risk mean for you? Click here to learn more !