Hereditary Pancreatic Cancer

Approx. 5-10% of pancreatic cancer is hereditary.

There is not currently a genetic test available specifically for pancreatic cancer.

Be reassured that most cases of pancreatic cancer are ‘sporadic’ i.e., they do not run in families, but there are some rare medical syndromes which are known to increase the risk for pancreatic cancer:

Familial Pancreatic Cancer (FPC):

Pancreatic cancer by itself (not part of a known syndrome) runs in some families. People with at least two first degree relative (mother, father, brother, sister) diagnosed with pancreatic cancer have almost double the risk of people without pancreatic cancer in their family¹

In the majority of FPC families the causative gene is unknown. One of the aims of EUROPAC (European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer) is to identify mutations that cause the predisposition in these families. For more information on the EUROPAC which is based in Liverpool, UK, click here.

Hereditary Pancreatitis:

Pancreatitis itself is fairly common however, hereditary pancreatitis is quite rare. It is characterised by the development of recurrent episodes of severe chronic pancreatitis (inflammation of the pancreas) which starts at an early age.

It is believed that hereditary pancreatitis is caused by a mutation of the trypsinogen gene on chromosome 7, and patients with this condition have been recognised as being at increased risk for the development of pancreatic adenocarcinoma.

Rare syndromes associated with increased risk of pancreatic cancer:

These are rare conditions. Unless you are aware that your family has one of the following gene faults, having other types of cancer in your family is very unlikely to mean that you are at increased risk of developing pancreatic cancer. If one of these medical syndromes runs in your family it is likely you will know about it already.

Familial Breast Cancer Gene (BRCA2):

American scientists working at Johns Hopkins, Baltimore have identified as many as 10% of pancreas cancers are caused by inherited defects in the BRCA2 gene. Gene testing for BRCA2 mutations is available.

Hereditary Colon Cancer:

The HNPCC (Hereditary Non-polyposis Colorectal Cancer) syndrome is an inherited predisposition to develop colon cancer, endometrial (uterine) cancer, stomach cancer and ovarian cancer. Gene testing for HNPCC is available.

Familial Melanoma:

The FAMMM (Familial Atypical Multiple Mole Melanoma) syndrome is a rare hereditary syndrome which increases melanoma risk (an aggressive form of skin cancer) in some families. These patients also have an increased risk of developing pancreatic cancer.

Peutz-Jeghers syndrome:

This is an extremely rare syndrome in which affected family members develop polyps in their small intestines and pigmented spots on their lips. The polyps are an abnormal growth of tissue protruding from the normal surface of the intestine. These patients are at an increased risk of developing pancreatic and other cancers.

Ataxia telangiectasia :

Ataxia telangiectasia is a primary immunodeficiency disease which affects a number of different organs in the body. An immunodeficiency disease is one that causes the immune system to break down, making the body susceptible to diseases. It is a rare, recessive genetic disorder of childhood that occurs in between 1 out of 40,000 and 1 out of 100,000 persons worldwide.

Remember – most pancreatic cancer appears out of the blue when there is no family history of the disease.

If you are concerned,  please follow the link to download “I have a family history of PC – what are the risks and what should I do?” written by Dr Bill Greenhalf from the Liverpool Centre of EUROPAC.