The Sol Goldman Pancreatic Cancer Research Center

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.

This is a current area of research at Hopkins. It has been estimated that ten percent of pancreatic cancers are hereditary. Many of these occur as part of rare medical syndromes. These include:

  1. 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 Cancer Registry (NFPTR) now contains over 250 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. Anyone wishing to join this registry or wishing to learn more about familial pancreas cancer may contact Alison Klein at
  2. 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.
    More recently, Dr. Goggins at Hopkins has shown that as many as 10% of pancreas cancers are caused by inherited defects in the BRCA2 gene (link to the what's new on this). 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 in Jews as compared to Catholics and Protestants. Testing is now available for BRCA2 mutations.
  3. 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. There are recent developments at Johns Hopkins in this area of research.
  4. 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.
  5. 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.
  6. Hereditary pancreatitis
    This rare disease is characterized by the development of recurrent episodes of severe chronic pancreatitis (inflammation of the pancreas) starting at an early age. The gene (segment of DNA) responsible for hereditary pancreatitis, called the trypsinogen gene, was discovered by Dr. Whitcomb of the University of Pittsburgh.

More information on:

Genetics Research | NFPTR | Genetic Testing | Recent Discoveries