Pancreatic cancer is more common in Jews than in the general population. Ashkenazic Jews (those of European origin) have a greater risk than Sephardic Jews (those of Asian or African descent).

A growing body of evidence suggests that increased pancreatic cancer risk for Ashkenazic Jews has a genetic basis; these cancers are caused by inherited ("germline") mutations in specific cancer-associated genes, including the familial breast cancer genes BRCA2 and BRCA1.

The risk of cancer to Jews who inherit a defective copy of BRCA2 or BRCA1 varies in different families. The reason for this variation in risk is thought to be dependent on "lifestyle factors" such as smoking, obesity, dietary influences, the inheritance of other cancer susceptibility genes and a certain element of chance.

About the Genes

As discussed below in the section on "Genetic Testing," Ashkenazic Jews should strongly consider genetic testing to see if they have an inherited BRCA2 or BRCA1 gene mutation. In pancreatic cancer patients, a mutation in BRCA2 is more common than in BRCA1 in patients with pancreatic cancer.


Since its discovery in December of 1995, researchers have come to a better understanding of the role of the BRCA2 gene in the development of cancer.

Every cell in our body has two copies of BRCA2; one is inherited from our mother and one from our father. It turns out that an ancestor of Eastern European Jews—approximately 29 generations ago—developed a defect in the DNA coding for the BRCA2 gene. This DNA defect, known as the "6174delT mutation," has been passed from generation to generation. As a result, 1% of all Ashkenazi Jews living today inherited a defective copy of one of their BRCA2 genes. Unbeknownst to them, these carriers of the BRCA2 mutation are at increased risk for developing breast, ovarian, prostate and pancreatic cancer.

While most attention in the media has been given to the risk of breast and ovarian cancer, the risk of pancreatic cancer in carriers of a BRCA2 gene mutation is elevated ten-fold. Put another way, current evidence suggests that in Jewish individuals who develop pancreatic cancer approximately 1 in 10 such cancers are caused by inherited BRCA2 gene mutations.

One striking feature of carriers of mutations of the BRCA2 gene is that they may not suspect that they are carriers because they may not have a family history of cancer, despite the fact that their ancestors on one side of their family must also have carried the same mutation. There are many reasons for this. Not every individual with an inherited BRCA2 gene mutation will develop cancer. Other environmental and genetic factors influence the risk of developing cancer. A small family size or early death from other causes may also obscure a familial cancer predisposition. Clearly, the absence of a family history of cancer does not mean that one does not carry the BRCA2 gene mutation.

Because the risk of cancer in a BRCA2 mutation carrier continues throughout life, we will see more cancers caused by inherited BRCA2 mutations as our population ages.


The first breast cancer gene to be discovered is called BRCA1. Inherited (germline) mutations in BRCA1 increase the risk of breast, ovarian, uterus, cervix, pancreatic, and maybe prostate cancer.

Approximately 1.5% of the Ashkenazi Jewish population carries an inherited mutation in the BRCA1 gene. These mutations are usually of one of two types, called the "185delAG" and the "5382insC" mutations.

The increased risk of pancreatic cancer associated with inherited BRCA1 mutations is estimated to be about two-fold (about the same increased risk associated with cigarette smoking).

Pancreas familial illustration blue

Join the NFPTR

If you are of Ashkenazi Jewish ancestry and have pancreatic cancer or a family history of pancreatic cancer, please consider joining our research project- the National Familial Pancreatic Tumor Registry.

Scientists at Johns Hopkins are actively hunting for additional genes that may increase the risk of pancreatic cancer in the Ashkenazi Jewish population. We are also developing therapies to specifically target cancers with mutations common in Ashkenazi Jews. Information about your family will help us save lives.

Research Discoveries Save Lives

Support Our Research

Genetic Testing

Clinical tests are now available to see if a person carriers a BRCA1 or a BRCA2 gene mutation. Although these tests are available, they may not be right for everyone. When deciding whether or not to have a gene test performed, you may wish to speak with a trained genetic counselor so that you are fully informed of the issues at stake. Genetic counseling includes both pre-test and post-test counseling, and can be given by specialist genetic counselors or by physicians experienced in this area. Genetic counseling is important before one embarks on gene testing because gene testing can raise anxiety levels, as well as concerns about insurance liability and employer discrimination. On the positive side, knowledge of one's risk can empower an individual. A negative result can provide reassurance, while positive result may save a life through the early detection of cancer or possibly even with preventative surgery.

JGDC is a good resoure on genetic testing and screening for Ashkenazi Jews.

To schedule an appointment at Johns Hopkins for genetic counseling, please contact The Johns Hopkins Clinical Cancer Genetics and Prevention Program at (410) 502-7082. A directory of genetic counselors in other areas may be found through the National Society of Genetic Counselors.

Treatment Implications

The BRCA1 and BRCA2 genes encode for proteins that function in the "Fanconi's anemia" pathway within normal cells. This cellular pathway functions to repair certain types of damage to DNA (called DNA cross-linking damage). Cells that are defective in BRCA1 or BRCA2 are known to be highly sensitive to certain chemicals. Indeed, Dr. Kern and colleagues from Johns Hopkins have found that BRCA2-deficient pancreatic cancer cells are especially susceptible to the toxic effects of the anticancer drug cis-platin. This finding suggests that specific therapies could be targeted to specific patients depending on their BRCA1 and BRCA2 gene status. For example, pancreatic cancers caused by an inherited mutation in BRCA1 or BRCA2 may specifically be sensitive to treatment with drugs called "PARP inhibitors". More research in this exciting new area is underway.

Individuals with an increased risk of developing cancer because of their inherited gene status may wish to consider participating in a clinical trial for the early detection of pancreatic cancer.