Sickle cell anemia in African-Americans. Cystic fibrosis among people with Northern European heritage. Blood disorders like thalassemia in people of Mediterranean ancestry.
Genetic disorders like these, and their relationship to specific ethnicities, have long been an important focus of medical and scientific research.
Jews, specifically those of Ashkenazi descent, also have unique and important genetics-based health risks – particularly regarding cancer. They are ten times more likely than the general population to carry a BRCA gene mutation, and thus have significantly increased risk for breast and ovarian cancer.
The BRCA genes are tumor suppressors that prevent uncontrolled cell growth and stop abnormal cells from turning into cancer. Everyone has two copies of the BRCA1 and BRCA2 gene; but those with a mutation have a change in one of the BRCA genes which prevents it from working properly. These individuals have higher lifetime risks for cancer because the gene is not functioning correctly. BRCA mutations are inherited from a parent and are passed down from generation to generation.
Ashkenazi Jews are descendants of an ethnic group of Jews who lived in Central and Eastern Europe about 800 years ago. Researchers believe that certain genetic characteristics were passed down through generations because these communities were insular, and largely separated from others. Experts estimate that between 75 and 90 percent of American Jews are Ashkenazi. Today one in 40 Ashkenazi Jews has a BRCA gene mutation, compared to one in 400 for the general population. It’s important to note that both men and women can have BRCA mutations and can pass them onto their children.
According to a recent study by a consortium of leading genetics and BRCA researchers, BRCA1 or BRCA2 gene mutation carriers have a 70 percent chance of developing breast cancer by age 80 – versus just 12 percent among the general population. The risk for ovarian cancer for women with these genetic mutations is up to 44 percent, compared to 1 to 2 percent for the general population.
The “Jewish Gene?”
While it’s true you can’t control your genetic make-up, there is power in knowledge and information. That’s why it is important for anyone who is Jewish or of Jewish descent to consider genetic testing and counseling, especially when there is a family history of breast, ovarian, prostate, or pancreatic cancer. Here in Austin, physicians at Texas Oncology pioneered a comprehensive approach to genetic testing and evaluation 19 years ago. The Genetic Risk Evaluation and Testing Program at Texas Oncology is now one of the largest community-based genetic risk evaluation program in the country. Genetic testing looks for changes in your DNA that may show a high risk for inherited cancer to give you an opportunity for prevention or early detection. The program combines in-depth family and medical history, genetic testing, ongoing counseling, determination of next steps regarding prevention, and evaluating risk for other family members.
Four years ago, the shocking announcement by movie star Angelina Jolie of her preventative double mastectomy touched off robust discussion about the so-called “Jewish gene.” That’s a misnomer since BRCA gene mutations are not limited to Ashkenazi Jews and their descendants. But because of its greater prevalence among Jews, many community leaders and health organizations focus on creating greater awareness of the risk to Jewish women and men.
For example, Sharsharet, a national advocacy organization, provides resources and support to Jewish women and their families facing breast cancer. Additional insight for Ashkenazi Jews also is available from Facing Our Risk of Cancer Empowered, or FORCE, a non-profit that supports families impacted by hereditary breast, ovarian and related cancers.
Testing 1,2,3 – Now What?
Having the BRCA1 or BRCA2 gene mutation does not automatically mean you should undergo a double mastectomy as Jolie did. Everyone’s total health and risk picture is unique. Rather, participating in a comprehensive program that includes guidance from certified genetics counselors, oncologists, and advanced practice providers with specialized training in genetics will help ensure that all appropriate choices are considered. These include:
- Heightened surveillance means that you receive screenings more frequently and/or starting at a younger age than usual, or have a different kind of screening, for the type of cancer for which you have high risk. Heightened screening schedules can help detect cancer in the earliest stages, when it is most treatable.
- Chemoprevention uses medication to help reduce risk of cancer. Medications already used in cancer treatments and new medications are being developed and tested for use as prevention tools. Chemoprevention cannot prevent cancer with 100-percent certainty, but it can lower risks for certain types of cancer.
- Prophylactic surgery, or risk-reducing surgery, prevents cancer by removing the organs that have a higher cancer risk. Surgery is always a major step and the decision to have or forego a prophylactic surgery is a significant choice, to be made in consultation with a physician.
Only about five to 10 percent of all cancers are clearly linked to genetics. Smoking, excessive use of alcohol, poor nutrition, obesity and lack of exercise also increase your risk for getting cancer. Indeed most cancer is unpredictable. But for those with proven genetic risk factors, including Ashkenazi Jews, the opportunity to investigate that risk in a testing and evaluation program can lead to proactive, life-saving prevention for yourself and your family.
Gayle Patel, MS, CGC, is a certified genetic counselor and director of the Genetic Risk Evaluation and Testing Program at Texas Oncology in Austin.
This story originally appeared in The Jewish Outlook.