Hereditary Pancreatic Cancer and the STK11, BRCA2 and CDKN2A genes

Pancreatic Cancer and the STK11, BRCA2, PRSS1, SPINK1 and CDKN2A genes

Around 2500 Australians are diagnosed with pancreatic cancer each year. When 2 or more closely related blood relatives (such as parent; child or brothers and/or sisters) are diagnosed the term Familial Pancreatic Cancer is used.

Is some families, a germline (inherited) mutation (change in the DNA code) in a key gene is responsible. These genes include STK11 (associated with Peutz-Jeghers syndrome) BRCA2 (associated with hereditary breast and ovarian cancer syndrome), PRSS1 or SPINK1 (associated with Hereditary Pancreatitis) and CDKN2A (associated with Familial Atypical Multiple Mole Melanoma syndrome)

The most effective way to reduce pancreatic cancer risk is not to smoke.

There is a 50% chance of a person who carries a germline STK11, BRCA2, PRSS1, SPINK1 or CDKN2A mutation, whether male or female, passing the mutation to their son or daughter. If a mutation were identified, then predictive testing may be available for blood relatives. This allows screening of at risk relatives to start early.

For more information on hereditary pancreatic cancer, see the specific syndromes or genes on our website or use the more general links below

  • The Australian Pancreatic Cancer Genome Initiative has information about pancreatic cancer and their current research trials
  • The Cancer Institute's eviQ pages provide accurate management and testing guidelines for individuals with inherited cancer syndromes. The site is open to patients and doctors: they just ask that you register so that can track usage. Go to and look under Cancer Genetics, Management in the left hand Category Menu