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 the genes) that increase their risk of certain cancers and disorders.

Centuries ago, this population lived in one area and were 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 commonly seen in the Ashkenazi population, including BRCA 1 & 2, HNPCC, and APC.

BRCA1 and BRCA2

BRCA1 and BRCA2 (BRCA1/2) are the most well-known genes linked to breast cancer risk. 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.

Among Ashkenazi Jewish men and women, about 1 in 40 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 associated with Ashkenazi heritage are linked to gastrointestinal cancers:

APC (Adenomatous Polyposis Coli) – causes an increased risk of colon cancer. This mutation is found in about 6% of Ashkenazi Jews. Their risk of colon cancer is about double that of the general population. People with APC can have hundreds of polyps, but this is not seen in Ashkenazi Jews with APC mutations.

HNPCC (Hereditary Nonpolyposis Colorectal Cancer or Lynch Syndrome) – increases the risk of colon cancer at a younger age (<40). HNPCC is also associated with 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 should discuss 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 the following apply to you:

• Your mother, daughter, or sister (first-degree relatives) has been diagnosed with breast or ovarian cancer.
• Your grandmother, aunt, or niece (second-degree relatives) on the same side of the family (mother’s or father’s side) has been diagnosed with breast or ovarian cancer.

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