CJG Blog

Center for Jewish Genetics blog

The Stories That Bind Us: What Are The Twenty Questions?

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By: Elayne Goldman

Do you know detailed information about your family history? In “The Stories that Bind Us: What Are the Twenty Questions?” the need for details in family history is explored to uncover the stories that need to be told in every family. This exploratory article determines twenty of the most important questions each family member should know about their parents and grandparents, and urges each reader to take the time to answer each of the questions. Don’t know the answer to one or more of the questions? Reach out to your family members and get the conversation started! The Norton & Elaine Sarnoff Center for Jewish Genetics has online resources for anyone who wishes to know more about their family history available at:  https://www.jewishgenetics.org/

Read the full article from the Huffington Post here

Rare Disease Day is February 28th!

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Although rare and genetic diseases, and many times the symptoms, are uncommon to most doctors, rare diseases as a whole represent a large medical challenge. Combine this with the lack of financial or market incentives to treat or cure rare diseases, and you have a serious public health problem. According to the Kakkis EveryLife Foundation, 95% of rare diseases have not one single FDA approved drug treatment, and approximately 50% of rare diseases have no specific foundational support or research to combat that disease. Currently, there are 7,000 different types of rare diseases and disorders, with more being discovered every day.

Need more information? 

  • There are an estimated 30 Million people living in both the United States and Europe each with rare diseases, or approximately 1 in 10 Americans, and 1 in 25 Europeans. If all of the people with rare diseases lived in one country, it would be the world's 3rd most populous country, with an estimated 350 million people. 
  • 80% of rare diseases are genetic in origin, and thus are present throughout a person's life, even if symptoms do not immediately appear.
  • Approximately 50% of those affected by rare diseases are children.
  • 30% of children born with a rare disease will not live to see their 5th birthday.
  • Rare diseases are responsible for 35% of deaths in the first year of life.

What can you do to help? Start by taking part in Rare Disease Day and make the voices of those living with rare diseases heard. Rare Disease Day is February 28th, and there is so much that every person can do, but raising awareness is key. Visit http://www.rarediseaseday.org/ to learn about the different events and activities that you can take part in as an individual, a family, or a community, and help those who have suffered for far too long on their own. 

Gastrointestinal Cancer Genetics: What Practitioners Need to Know

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By: Karen Litwack 

It may surprise you to learn that according to statistics from the American Cancer Society (2014), 136, 830 new cases of colorectal cancer (CRC) were diagnosed and 50,310 deaths were reported.  CRC is the second leading cause of cancer death in men and women in the U.S.  The lifetime risk is about 1 – 17 with the average age of diagnosis at 67 years.

This is in stark contrast to hereditary cancers syndromes such as Lynch syndrome (hereditary non-polyposis colorectal cancer/HNPCC) and familial adenomatous polyposis (FAP) where age of onset can be much lower and specific gene mutations have been found to contribute to these complex cancer syndromes. 

 About 10 – 30% of CRC are considered familial with only about 2 – 5% affected by Lynch syndrome.  The gene mutations involved in Lynch syndrome are autosomal dominant and cause a loss of normal DNA repair which leads to genomic instability.  The cancer spectrum for Lynch syndrome includes CRC, endometrial, ovarian, stomach, urinary tract, small bowel, biliary tract, pancreatic and brain.  Using universal testing, there are about 16,000 new Lynch syndrome patients each year that would benefit from screening and surveillance.

FAP is another autosomal dominant hereditary cancer syndrome.  FAP can affect individuals at a very young age and management with colonoscopies can begin as young as 10 – 12 years of age.  There is no recommended age for surgical intervention.  Children and adolescents usually delay with surveillance until old enough for this procedure.

Given the serious nature of hereditary CRC, when should healthcare providers consider a referral for a cancer risk assessment?   

According to Jessica Stoll, genetic counselor at the University of Chicago Comprehensive Cancer Risk and Prevention Clinic, the following are indications for referral; personal history of an early onset cancer diagnosis, personal history of bilateral or multiple cancers, family history of cancer and for genetic testing for clinical trials. 

How would a patient benefit from a cancer risk assessment?

The patient would receive a comprehensive risk assessment which includes; evaluation of family history and personal risk factors, determination of appropriate genetic testing and management and detailed counseling around genetics, cancer genetics, pre and post test results and psychological issues which may arise with the patient or family members.

What are the benefits of genetic testing for patients?

Genetic testing may provide a patient with a more specific cancer risk; an opportunity for personalized cancer screening and risk reduction options; an answer to patients and families that have experienced multi-generational illness (from cancer) or demise; may decrease cancer anxiety in some patients and/or families; and may provide family members with more information about their own cancer risk.

The Norton & Elaine Sarnoff Center for Jewish Genetics would like to thank Dr. Sonia Kupfer  and  Jessica Stoll, MS, CGC who oversee the Gastrointestinal Cancer Risk and Prevention at the University of Chicago for their excellent presentation on Gastrointestinal Cancer Risk.

Mommy, Where Are Your Nipples?

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“MOMMY, WHERE ARE YOUR NIPPLES?” – January 18, 2016

Karen Lazarovitz 

As published in Connect4Cancer in February 2015

“Mommy, where are your nipples?”

This is something I never thought I would hear coming out of my children’s mouths. This is my reality; and I promised myself when my journey began over six years ago, that I would always be honest with them. I respond with, “The doctors removed them along with my boobies and fixed them so that I would never get sick with breast cancer.” That answer satisfies them, for now at least.

                                               Jonah 4, Paige 2
At the time of surgery, Jonah 4, Paige 2                                                       

To those who don’t know about hereditary breast and/or ovarian cancer it makes no sense.  People aren’t able to understand that by removing healthy breasts and ovaries, I have reduced my chances of developing cancer to less than 2-5%.   If I had a dollar for every person that told me that I could eat right or exercise to avoid my risk of cancer, well, I would have a lot of money!  As a BRCA2 mutation carrier, I was given up to an 87% risk of breast cancer and up to 40% risk of ovarian cancer. That knowledge alone was enough for me to take drastic actions. Cancer was NOT going to get me.

A mutated BRCA gene cannot be repaired.  It cannot be fixed by eating right, exercising, or with natural remedies.  If you have a mutated BRCA gene it’s because you were born with it.  It has been ingrained in your DNA from the time of conception.  If either of your parents has the BRCA mutation then there is a 50% chance of passing it onto their children. And yes, males can be carriers as well.

September 2008, when my dad called to tell me that he was waiting for his results from a genetic test, I had no idea what he was talking about. He explained that it was a blood test to see if he carries a mutated BRCA gene which could be passed down to me and put me at an extremely high risk for certain cancers. We didn’t have any breast cancer in our family that I was aware of, and, although sadly, one of my cousins was fighting ovarian cancer, I didn’t see how it was connected. While I knew he lost his mother to cancer while he was in his teens, I never knew the details.

On December 27th 2008, at my own genetic testing appointment I received my positive BRCA mutation results.  Soon after my genetic counselling appointment, I learned from my father that he was able trace our family tree as well as health records from my cousin (who was fighting ovarian cancer at the time). I discovered that there was not only ovarian cancer in my paternal family tree, but breast cancer and skin cancer too (which we BRCA2 mutants have a slightly higher risk for). 

                                                Husband and best friend Joel
My amazing husband and best friend Joel 

Walking out of my genetic counselling appointment, hand in hand with my amazingly supportive husband, my decision was made. I was going to have a risk-reducing double mastectomy and hysterectomy with oophorectomy (removal of the ovaries), ASAP! 

Armed with my results, I got online to search for others who were in a similar situation. I was shocked to find almost no information or support about BRCA mutations.  I needed to talk to others who knew what I was going through. I needed to connect with others who were living with a BRCA mutation. I needed to bond with others who understood how I was feeling.

Panic set in and breast and ovarian cancer took over every waking thought.  Every ache and pain I felt I thought was cancer.  My breasts and ovaries felt like ticking time bombs, like they were plotting against me. I had to get rid of them. Right away! I felt that it was not a matter of if I was going to get cancer butwhen.  All I could think was, I`m going to get cancer and die young. I`d leave my husband a widower and my children without a mother. I was NOT going to let that happen!

On February 10th 2009, I had a full risk-reducing hysterectomy with oophorectomy. Once I recovered, I went back into the hospital on April 30th, 2009 to undergo a risk-reducing double mastectomy with the beginning of reconstruction (or, PBM; Prophylactic Bilateral Mastectomy as those of us in the BRCA community refer to it).  From the moment I woke up from both surgeries, my fear was gone. I never once questioned my decisions. I was so proud of myself! I was elated! I had taken control of my life and dealt cancer a pre-emptive strike! 

Going through with my surgeries and reconstruction was not easy and I was still looking for support which I wasn`t finding. Thankfully I found one girl who I connected with online, Teri Smieja, who also had a BRCA mutation and was going through the same preventative surgeries as me. It was such a relief to talk with someone who just got it. I felt like I wasn’t alone. It made all the difference during my journey and we have since become amazing friends.


                                                Teri Smieja
Teri Smieja and I - Founders of BRCA Sisterhood

We decided that we would start a private Facebook group for women like us who needed support. In December 2009 we started the BRCA Sisterhood. It started with eleven women and has since grown into the largest, most active Facebook group of its kind with over 4300 women worldwide and growing daily. It is a group that is filled with support and understanding. There is no judgment only love.  Whether someone is choosing surveillance, chemo-prevention or risk-reducing surgeries, there is someone in the group going through the same thing.

Through the love, support and appreciation of all the women I have met, grew a passion for advocacy. I realized that I could make a difference.  I felt something deep inside of me take over. The BRCA Sisterhood wasn`t enough, I needed to do more.

Six months ago I started a Montreal BRCA support group with a genetic counselling student who is studying cancer genetics.  The group meets once a month and allows everyone to have a face to face connection. It has been quite successful and I have received great feedback from the women who have attended.

I still feel that I still have so much to offer and share, which brings me to this, my next project, my blog.  When Connect4Cancer approached me about writing a blog for them I was touched and humbled and happily agreed! Being able to affiliate myself with such a fabulous organization will be a tremendous help in reaching a wider audience.

Whether you are dealing with hereditary breast and/or ovarian cancer or know someone who is I encourage you to make sure that they ask questions, educate themselves and reach out and ask for help. No one dealing with something as serious as Cancer should ever feel alone. I have and will always be an open book about my risk reducing surgeries so if you have any questions at all please don`t hesitate to ask.

Until next month!

Much love and health,

Karen

Xox

"We make a living by what we get, but we make a life by what we give." ~ Winston Churchill.

                                            Jonah 10, Paige 8
Jonah, 10 years & Paige, 8 years

Karen Lazarovitz, a BRCA carrier is an advocate for hereditary breast and ovarian cancer. Karen is the founder and Creator of the BRCA sisterhood on Facebook with over 4500 members worldwide and growing daily. She also started the first BRCA support group in Montréal. Karen shares her thoughts every month on Connect4Cancer and has been kind enough to share her posts with the Center for Jewish Genetics. Interested in learning more about Karen? Check out Facebook, Twitter, or Instagram!   

Facebook:   BRCASisterhood                
Twitter:   @KarenBRCAMTL
Instagram:   KarenLazarovitz_BRCA

There are many genes and mutations that lead to an increased risk for hereditary cancers, and the Center is here as a resource for all of these conditions, especially those that are more common in the Jewish community.

There has been so much information in the media recently surrounding BRCA1 and BRCA2 and how mutations on these genes can lead to an increased risk for certain cancers; there has also been a lot of information in the media about how mutations in these genes are more common in the Ashkenazi Jewish population, and what our community should do regarding that increased risk. If you are interested in learning more about the Center’s position on that topic, please refer to our statement  here.

If you would like more information on hereditary cancers or have questions regarding genetic testing, please feel free to contact the Center’s genetic counselor, Aishwarya Arjunan, at 312-357-4658 or by email at  AishwaryaArjunan@juf.org. You should also feel free to check out our  partners’ page, which includes information on organizations that specialize in support for these hereditary cancers and the risk for these hereditary cancers.

Baby1

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 !