CJG Blog

Center for Jewish Genetics blog

Five Facts Men (and Women) Need to Know About BRCA

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By Carol Guzman

Even more than 25 years after the discovery of the BRCA gene, there are still misconceptions about the cancer gene. In 2019, Mathew Knowles, Beyonce’s father, announced his breast cancer diagnosis and BRCA2 gene mutation. The news about the global superstar’s father increased awareness of BRCA mutations in men. Below are five facts about BRCA and how it can affect men’s (and women’s) health:

  • Everyone has BRCA genes: Many people associate BRCA gene mutations with women only. BRCA genes are tumor suppressor genes, which means they help our cells grow and regulate themselves. If either gene, BRCA1 or BRCA2, has a mutation, our cells can divide and group in an unregulated manner, which leads to increased cancer risk. 
  • Individuals with Jewish ancestry have an increased risk of a BRCA mutation: Around 1 in 400 people in the general population have a BRCA mutation compared to about 1 in 40 people with Ashkenazi Jewish ancestry. Most of today’s Ashkenazi population descended from a group of a few thousand individuals, which is how a BRCA mutation may have become more frequent over time. Today there two mutations on the BRCA1 and one on the BRCA 2 gene called ‘founder mutations. 
  • BRCA mutations affect Men (and Women: A common misconception regarding BRCA mutations is that they only increase risk of female breast and ovarian cancer. Men that carry BRCA gene mutations face genetic health risks of their own, such as an increased risk of male breast cancer and prostate cancer. Both men and women with BRCA mutations also have an elevated risk of pancreatic cancer and melanoma.  
  • BRCA1 and BRCA2 mutations affect an individual’s risk of canc
  • er differently: Not all BRCA mutations are the same. Having a BRCA mutation does not guarantee you will have cancer, but it does increase the likelihood of cancer. Men with BRCA 2 mutations have a greater elevated risk of male breast, prostate, and skin cancer than men with a BRCA1 mutation. 
  • Both parents can pass down BRCA mutation to their children: If a man or woman carries a BRCA mutation, not only do they have an increased health risk, but they also have a 50% chance of passing the mutation down to each of their children, both daughters and sons. Families should take note of their family health history and pass it down. This critical information can shape a person’s medical decisions.

If you have a BRCA mutation or have many BRCA-related cancers in your family, meeting with a genetic counselor is an excellent first step. A genetic counselor can review your family history of cancer and help decide whether genetic testing is appropriate for you.

Are you interested in learning more? Our upcoming free virtual panel program, “What’s Jewish about Men’s Hereditary Cancer?” will feature information and resources and hereditary cancer risks facing Jewish men and their families. Register at juf.org/BRCA.

  For more information about BRCA mutations or genetic counseling, contact the Norton & Elaine Sarnoff Center for Jewish Genetics at jewishgenetics@juf.org or 312-357-4718.

What’s Jewish about Hereditary Cancer? Q&A Session

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In October 2020, the Sarnoff Center presented our first virtual iteration of What’s Jewish about Hereditary Cancer? Our panelists included genetic counselor Taya Fallen from Insight Medical Genetics, social worker Rebecca Koren from Sharsheret, and specialist in gynecologic oncology, Dr. Shari Snow from UChicago Medicine. After our panelists’ presentations, our moderator, Executive Director of the Jewish Women’s Foundation, Ellen Carmell, moderated a question-and-answer session taking questions from our 120-person audience.

Our panelists answered questions about hereditary cancer genes more prevalent in the Jewish community and about cancer genetic testing, which can help identify a person’s risk of having cancer. One in 40 Ashkenazi Jews carries a disease-causing mutation in the BRCA gene, increasing a person’s risk of developing breast cancer (like its namesake), ovarian cancer, prostate cancer, pancreatic cancer, and certain types of skin cancer.

A select number of questions and answers from our panel of experts are transcribed below. This conversation has been edited for length and clarity. To see the full What’s Jewish about Hereditary Cancer? question-and-answer session video, click here. If you would like to see the recordings of our panelist’s presentations or speak with the Sarnoff Center’s genetic counselor, email us at jewishgenetics@juf.org.

Ellen B. Carmell: So much has changed since COVID-19. How are genetic testing and screening protocols being handled during the pandemic? 

Taya Fallen: [During the pandemic], genetic counseling can still be provided in [multiple] settings. Consultations can be conducted via phone, Zoom, Microsoft TEAMS, and Google Meet. If a patient would like to be tested, we can send a saliva collection kit to their home. DNA from the saliva is suitable for hereditary cancer testing. For [patients] that do end up testing positive [for a genetic mutation], many medical centers are now opening their doors and having an in-person appointments to help patients with routine surveillance. Having a known gene mutation does not mean sitting at home with that information and not being able to [take actionable steps].

Dr. Shari Snow: Many physicians are also offering virtual visits [at this time]. As Taya mentioned, [physicians] are still doing routine screening services like mammograms colonoscopies for patients with a normal or increased risk [of cancer]. It is important not to significantly delay [your] usual health maintenance and screenings during this time. We do not want to let something get out of hand.

EC: Does insurance cover BRCA testing, and how much does it cost? 

TF: “[The cost of] testing of the BRCA genes [is variable, in part based on] if we target the common Jewish mutations [or] if we end up doing the full sequencing and rearrangement testing of the gene. The good news is that insurance companies have comprehensive guidelines and criteria if an individual’s personal or family history suggests having a heritable risk of cancer, such as having Ashkenazi Jewish ancestry. Unfortunately, most of the cost concerns regarding testing of BRCA or other genes [associated with cancer risk] are often related to whether our deductible has been met and what our financial responsibility might be on that end.

SS: The United States Preventative Services Taskforce (USPSTF) classified BRCA [genetic] testing in the same category as mammograms, meaning that testing is considered appropriate preventative care. If patients meet [the USPSTF] criteria, many insurance companies will cover [the cost of testing]; it will not apply to [a patient’s] deductible or copay. [Insurance companies] will cover it the same way they cover a mammogram, which does not require a copay or deductible. Check with your particular plan and policy to make sure you know ahead of time [what they will] cover and what your financial responsibility might be.

You can learn more hereditary cancers and cancer genes that are more prevalent among people of Ashkenazi Jewish ancestry here. If you have additional questions about cancer genetic testing, please contact the Sarnoff Center at (312) 357-4718 or JewishGenetics@juf.org and ask to speak to our genetic counselor. 

A Jewish New Year to Remember

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by Carol Guzman

In past years, one of the Sarnoff Center’s favorite high holiday traditions has been to reach out to Chicagoland synagogues to offer congregants bags containing sweets and information about our organization. Although the Jewish high holidays look a little different in 2020/5781 due to the COVID-19 pandemic, we are still here to help you commit to a sweet and healthy new year!

With the current limits on indoor gatherings, many community members won’t be celebrating the high holidays inside their places of worship or with extended family. While we may not be able to celebrate in-person together, we hope you continue to prioritize your health and your family’s health this holiday season. Whether it be hosting a virtual Yom Kippur break-fast or a Rosh Hashana Zoom dinner, consider talking to your family about your family health history. Even though we cannot gather in person, you can still take actionable steps to proactive about our health while adhering to COVID-19 guidelines. 

If you are considering family planning, our convenient online carrier screening program allows individuals to complete the screening process entirely from home. Register for the program on our  website, complete a 15-minute education course, and get the genetic testing kit delivered to your home. During the COVID-19 pandemic, we have temporarily lowered the carrier screening program fee to $49 per person.

Consider learning more about the BRCA gene at our virtual “ What’s Jewish About Hereditary Cancer?” panel program on Oct. 21. Our program was initially scheduled in March before the pandemic forced a change in plans. We are excited to feature a panel of experts, including a genetic counselor, social worker, and gynecologist, to explore the hereditary cancer risks facing the Jewish community – and how COVID-19 impacts care.

Since March, the community has had an additional way to access our genetic counselor, Melissa Ramos, who, along with our Program Manager of Health Education Rebecca Bakal, hosts monthly Facebook Live Q&A sessions. Past topics include “Genetic Health During a Pandemic” and “Genetic Information Privacy Issues.” They are willing to answer our audience’s questions, regardless of the subject of the session. If you would like to reach out to Melissa privately, email her at  melissaramos@juf.org

While the pandemic has significantly changed our daily lives, the Sarnoff Center continues to offer resources to help you with your health-related Jewish new year’s resolutions. Here’s to next year, not on Zoom but in person.

The Sarnoff Center wishes you a sweet new year and an easy fast to those who observe. 

Breast Cancer Testing: Then & Now

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by Carol Guzman

In 1995, the BRCA genetic test for predisposition to breast and ovarian cancer was among the first cancer genetic test to become available for clinical use. More than 25 years after the discovery of the BRCA1 gene, research continues to identify thousands of BRCA1 and BRCA2 mutations linked to increased breast cancer risk. As more precise testing options become available, we delve into the new advances in genetic testing for breast cancer.

How has BRCA testing evolved since it was first introduced?

The demand for BRCA testing has steadily increased since researchers learned that individuals carrying pathogenic BRCA1 or BRCA2 mutations have elevated lifetime ovarian and breast cancer risk. BRCA testing conducted in 1995 was nowhere near as comprehensive as it is now. Our ability to read DNA has grown tremendously in the last few decades. In the past, BRCA tests used genotyping, a technology that examines specific locations of our DNA and compares it to reference DNA to identify differences or mutations that, at the time, were commonly known to increase an individual’s risk for cancer. Today laboratories are adopting next-generation sequencing technology, which can sequence BRCA1 and BRCA2 genes in their entirety. Think of genotyping as reading a few words on each page while sequencing allows you to read the entire chapter in a book. With next-generation sequencing, doctors will be able to analyze your genetic data as we continue to discover new BRCA mutations. 

What is the difference between BRCA testing offered by tests like 23andMe and those offered by a doctor?

Direct-to-consumer (DTC) tests, like 23andMe, are genetic tests a person can purchase over the counter or through the internet. On the other hand, a healthcare provider must order a clinical genetic test on behalf of their patient. In 2018, 23andMe received FDA approval to identify three variants in the BRCA1 and BRCA2 genes, also known as the ‘founder mutations’ because they are more commonly found among individuals with Ashkenazi Jewish ancestry. DTC tests do not take a patient’s family health history into account to determine whether more comprehensive genetic testing is necessary. There are more than 1,000 variants in the BRCA1 and BRCA2 genes known to increase cancer risk. Geneticists found that 23andMe’s genetic test could miss nearly 90 percent of participants who carried a different BRCA mutation than the three they currently offer. DTC companies also use simpler, more cost-effective technology compared to a clinic test ordered by a genetic counselor or healthcare provider. Patients who come to their doctor with DTC results must confirm their findings with a clinical test.

Beyond BRCA, are there other cancer mutations that are more common among people with Jewish ancestry? 

Yes, there are other breast cancer mutations on other genes found more commonly in individuals of Jewish ancestry though they are not as common as the founder mutations. Just last month, researchers at the Basser Center for BRCA found that a mutation on the TP53 gene was expressed most commonly in the Ashkenazi Jewish population.  Another pathogenic mutation on the CHEK2 gene was previously identified as an Ashkenazi Jewish founder mutation and increases breast cancer risk. Other genes with mutations found more commonly in people of Jewish ancestry compared to the general population include BRIP1 and PALB2. However, it’s important to note that less than 4% of Ashkenazi women who test negative for the three BRCA founder mutations still carry pathogenic mutations on other genes

As scientific technologies develop more comprehensive genetic testing, talk to your healthcare provider to see whether new genetic tests can provide a deeper insight into your genetic health. The Norton & Elaine Sarnoff Center for Jewish Genetics offers a wealth of resources for persons who want to learn more about their risk and options for testing, prevention, and early detection. These resources include information on our website, JewishGenetics.org, and community access to a genetic counselor who is available to provide education, answer questions, and direct individuals to appropriate clinical resources.

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Affordable, Accessible Genetic Screening in Illinois

Our affordable, accessible carrier screening program uses advanced technology to provide comprehensive screening for Jewish and interfaith couples. Visit our Get Screened page to learn more and register.

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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 . Talk to 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 .