Pancreatic cancer is an unusual form of cancer and many have not heard of it. Pancreatic cancer is not found in the top ten most common cancers however the 5-year survival rate of pancreatic cancer is relatively low when compared to the 5-year survival rate of other cancers. One of the reasons pancreatic cancer isn’t as common as other forms of cancer is that genetic predispositions for the disease appear to be less common than that for breast cancer or other forms of cancer. With 10% of those diagnosed thought to be due to genetic factors. Below are the potential genetic risk factors of pancreatic cancer that can be used by those with a genetic predisposition to be more aware of potential signs of pancreatic cancer.
The PRSS1 mutation is one of the key genetic factors responsible for chronic pancreatitis. The mutation was discovered in 1996 and it was discovered that this mutation affects one of the digestive enzymes the pancreas produces called trypsinogen. The improper assembly of the trypsinogen results in chronic pancreatitis though the mechanism is poorly understood. Chronic pancreatitis is the inflammation of the pancreas and is strongly correlated with an increased risk of pancreatic cancer developing within one’s lifetime. With this the PRSS1 mutation causes pancreatitis but is also a genetic factor that increases one’s chance of developing pancreatic cancer.
The NF1 mutation is associated with a condition called Neurofibromatosis type 1. Neurofibromatosis is a condition that ca result in the formation of growths below the skin typically grouped around nerves. These growths are called neurofibromas as the growths are a result of cell growth of the nerve sheath. While this seems unrelated to pancreatic cancer, the NF1 mutation has been found to have an association to many forms of cancer. In a way the NF1 mutation appears to be a mutation that predisposes individuals to cancer. A study has shown that the NF1 mutation is present in about 1% of pancreatic carcinoma patients which is a loose correlation however the NF1 gene is corelated much more to other forms of cancer.
The BRCA2 mutation is most commonly known for its correlation with breast cancer. However, the BRCA2 mutation is actually associated with many other forms of cancer. The mutation causes a disfunction in DNA repair within cells. DNA damage plays a large contributing factor to cancer formation. The BRCA2 mutation contributes to about 3% of breast cancers, 10% of ovarian cancers, and 1-4% of pancreatic cancers. Those who test positive for the BRCA2 mutation should take extra precautions like regular cancer screenings, avoid carcinogens like tobacco products, eat healthy, and have an active lifestyle.
The p16 gene is a tumor suppressor gene which means that it inhibits cancer formation. When the p16 gene gets mutated the gene loses its function and results in the formation of cancer. The p16 mutation is common in familial melanomas as well as pancreatic carcinomas. By getting genetic testing for the p16 mutation it allows those who have the mutation to monitor skin abnormalities or other signs of cancer, including those of pancreatic cancer.
The key take away from this is that cancer of all forms have some underlying genetic basis. Whether it is able to be passed on from generation to generation is something that is continually being researched. Often times if you have a genetic mutation that is correlated to any form of cancer, you significantly increase your likelihood of developing other cancers. Developing cancer requires many checkpoints within the cell cycle to be bypassed through mutation. If you are born with one of these checkpoints already removed, the likelihood of having cancer increases.