Pancreatic Cancer Genetic Testing

Pancreatic Cancer Genetic Testing

Genetic testing is recommended if you suspect you may have hereditary pancreatic cancer. This test looks for alterations in the DNA, which are present in all parts of the body. These alterations are identical from person to person and can affect treatment options. Genetic testing may cost thousands of dollars, so your insurance company will cover your costs. However, genetic counselling can help you find the best plan for your situation.

Detect Hereditary Pancreatic Cancer

If you think you may have an ancestor with hereditary pancreatic cancer, there are a few things you need to know. These genetic conditions do not necessarily guarantee that you will develop the disease, but they increase your chances. Genetic testing can provide you with more information about the genetic risks associated with pancreatic cancer and help you find a genetic counsellor. PanCAN's patient services can assist you in determining your risk and how to best address it.

ATM mutations

The ATM gene is one of the most common cancer susceptibility genes. This gene is located in islet cells and is the most frequently mutated of all genes in PDAC5. It has been implicated in the development of pancreatic cancer. Mutations in the ATM gene can cause pancreatic cancer. However, it is not clear whether ATM mutations are causal. In some studies, a single mutation is enough to cause pancreatic cancer.

Peutz-Jeghers syndrome

The association between Peutz-Jeghers syndrome and certain digestive tract cancers is known to be genetic. People with this syndrome are more likely to develop pancreatic, gastric, and stomach cancer, among other rare cancers. There is a strong family history of the disease, and about half of those with JPS will eventually develop the disease. Although the relationship between pancreatic cancer and JPS is not completely clear, it is possible to test family members.

PRSS1 gene mutation

The PRSS1 gene mutation is a known cause of pancreatic cancer. Mutations in the PRSS1 gene result from gene conversion, which leads to nucleotide changes in the axon region. The alteration affects the balance of protease and anti-protease, resulting in the onset of pancreatic cancer. The mutation is caused by several factors, including genetics, smoking, alcoholism, and a lack of anti-oxidants.

STK11/LKB1 germline variants

Two recent studies have shown a significant association between STK11/LKB1 germline mutations and the risk of pancreatic cancer. A study at Johns Hopkins Hospital found that sporadic pancreatic adenocarcinoma and biliary neoplasms expressed Stk11 significantly. Although the role of these germline variants in pancreatic cancer is unclear, researchers have found that STK11 expression is restricted to the ductal epithelium and is often absent in adjacent islet or stromal cells.