Ashkenazi Jewish Heritage and Genetic Risk

Ashkenazi Jews, whose Jewish ancestors are from central or eastern Europe, have been found to have genetic mutations (changes in their genes) that increase their risk of certain cancers and disorders.

Centuries ago, this population lived in one area that was isolated from other populations of people. Because of this, Ashkenazi Jews can trace their ancestors back to a small group of people. Genetic traits were passed down among this group with little influence from other populations’ genes.

There are a few genetic mutations that are often seen in the Ashkenazi population, like:

• BRCA 1 & 2 (most well-known genes linked to breast cancer risk).
• HNPCC (Hereditary Non-Polyposis Colon Cancer).
• APC (Adenomatous Polyposis Coli).

BRCA1 and BRCA2 (BRCA1/2)

Mutations in the BRCA1/2 genes can be passed to you from either parent and affect cancer risk in men and women. Ashkenazi Jews with these mutations may also have an increased risk of ovarian, pancreatic, prostate, and skin cancer.

About 1 in 40 Ashkenazi Jewish men and women have a BRAC1/2 mutation. 1 in 400 people in the general population have a BRCA1/2 gene mutation.

Other genetic mutations: APC and HNPCC

Two genetic mutations linked with Ashkenazi heritage that can raise the risk of gastrointestinal (GI) cancers are:

• APC:  Causes an increased risk of Familial Adenomatous Polyposis (FAP) and colon cancer. This mutation is found in about 6 out of 100 Ashkenazi Jews. Their risk of colon cancer is about double that of the general population. The risk for colon cancer in Ashkenazi Jews who have APC is still higher even if they do not have as many polyps as someone in the general population who has APC.
• HNPCC: Increases the risk of colon cancer at a younger age (less than 40 years old). HNPCC is also linked to endometrial, gastric, ovarian, small intestine, bile duct, pancreatic, brain, and ureter cancer.

Should I get genetic counseling if I am of Ashkenazi Jewish descent?

If you are of Ashkenazi Jewish descent, you should talk about your family history with your care provider to see if genetic counseling is right for you. The CDC (Centers for Disease Control and Prevention) recommends genetic counseling if either of these situations apply to you:

• Your mother, daughter, or sister (first-degree relatives) has been diagnosed with breast or ovarian cancer.
• Two of your family members on the same side of the family (2 second-degree relatives from either your mother or father’s side, such as your grandmother, aunt, or niece) have been diagnosed with breast or ovarian cancer.

Finding out about a genetic mutation can be scary. The information can help you take steps to prevent certain cancers through lifestyle choices, screening, medications, and surgical procedures to lower your risk.

Resources for More Information

Centers for Disease Control and Prevention (CDC): Jewish Women and BRCA Gene Mutations.

Jewish Genetic Diseases: Resource and helpful information concerning Jewish Genetic Diseases.

National Cancer Institute: The Genetics of Cancer.

Sharsheret: A national organization that provides community and education for young Jewish women with breast cancer.

Susan G. Komen: Ashkenazi Jewish Heritage.