The Sol Goldman Pancreatic Cancer Research Center

The Johns Hopkins Hospital
1550 Orleans St., CRB II, Rm341
Baltimore, MD 21231
phone: 410.955.3512
fax: 410.614.0671

Is Pancreatic Cancer Hereditary?

Cancer of the pancreas is a genetic disease which means that it is caused by changes (mutations) in DNA. These changes can be inherited (we are born with them) or they can be acquired (they develop after we are born). The inherited changes explain why cancer of the pancreas runs in some families, and the acquired changes can be the result of either bad luck during cell replication or by exposure to carcinogens (cancer causing chemicals) such as those found in cigarette smoke.

Hereditary pancreatic cancer is a current area of research at Johns Hopkins, and if you or a family member has been diagnosed with a pancreatic tumor, you can benefit our research study by joining our registry. It has been estimated that ten percent of pancreatic cancers are hereditary. Many of these occur as part of rare medical syndromes. These include:

Familial pancreatic cancer
It has now become clear that pancreas cancer by itself (not part of a known syndrome) runs in some families. For example, relatives of patients with pancreas cancer have an increased risk for developing pancreas cancer themselves, and the National Familial Pancreas Tumor Registry (NFPTR) now contains over 1,376 families in which two or more family members have had pancreas cancer.

Scientists at Johns Hopkins are working diligently to discover the reasons why pancreas cancer runs in these families. To learn more about familial pancreas cancer please contact us at

Familial breast cancer gene (BRCA2)
This is the second familial breast cancer gene identified. It was discovered because of a remarkable advance made by the Hopkins team studying pancreas cancer.

We have shown that 6% of familial pancreatic cancer patients have an inherited defect in the BRCA2 gene. One particular defect in BRCA2 (a mutation called 6174 del T) is found in about 1% of individuals of Ashkenazi Jewish descent which may explain the higher rate of pancreas cancer observed the that group

Peutz-Jeghers syndrome
This is a very rare hereditary syndrome in which affected family members develop polyps in their small intestines and pigmented spots on their lips. These polyps are masses of tissue that protrude from the normal surface of the intestine. Patients with Peutz-Jeghers syndrome have an increased risk of developing pancreas cancer.

Familial melanoma
The Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome is a rare hereditary syndrome in which affected family members develop skin moles and melanomas (an aggressive form of skin cancer). These patients also have an increased risk of developing pancreas cancer.

Hereditary colon cancer
The Hereditary Non-polyposis Colorectal Cancer (HNPCC) syndrome strikes as many as 1 in 200 individuals and it is characterized by the inherited predisposition to develop colon cancer, endometrial (uterine) cancer, stomach cancer and ovarian cancer. Patients with HNPCC may also have an increased risk of developing pancreas cancer. Indeed, the DNA finding typical of HNPCC, called microsatellite instability has recently been reported in a small (about 4%) fraction of pancreas cancers. Gene testing for HNPCC is now available.

Since the NFTPR is strictly a research study, it is not a surrogate for genetic testing and clinical risk assessment. Your participation greatly aids our research team in their efforts, and we hope our findings will eventually help families like your own. We feel it is very important to keep participants informed of our research findings, including overall study results, and try to provide information on how to access new clinical tests when they become available.

Clinical tests are now available for several gene mutations known to increase the risk of pancreatic cancer, such as those mentioned above. Although these tests are available, they may not be right for everyone. In deciding whether or not you want to have a gene test performed, you should speak with a trained genetic counselor so that you are fully informed of the issues. 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 although gene testing raises concerns about insurance liability and employer discrimination, 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.

To pursue genetic counseling and possible genetic testing, find a trained genetic counselor in your area by visiting and clicking on "find a counselor" on the left hand toolbar. We recommend an "advanced search". Simply plug in state and area of specialization (cancer).