Genetic Mutation Biomarker Testing for Pancreatic Cancer

Many of the latest advancements in cancer treatment, including pancreatic cancer treatments, are available because cancer researchers can now study the human genome for mutations. Some gene mutations are inherited, while others develop in a person over time, often caused by exposure to chemical or other environmental factors. Mutations that occur in your lifetime rather than being handed by a parent are called somatic mutations.

Researchers have also been able to develop drugs that target specific genetic mutations that slow or stop cancer growth. Your oncologist will request biomarker testing on cells removed during surgery or a biopsy to find out if one of these targeted therapies is a good fit. Based on the results, the oncology team develops a personalized cancer treatment plan.

Gene Mutations Associated with Pancreatic Cancer

Those who develop pancreatic cancer are often in a risk group based on lifestyle choices, including alcohol abuse, chemical exposure, smoking, and even obesity. These risk factors can lead to genetic mutations over time. Some patients develop pancreatic cancer due to an inherited genetic mutation.

Whether the genetic mutation is inherited or somatic, specific targeted therapies are known to work for particular mutations.

Inherited Gene Mutations Related to Pancreatic Cancer

Up to 10% of pancreatic cancers are caused by an inherited gene mutation.

BRCA 1 and 2 have been found to cause a small but increased risk of developing pancreatic cancer. BRCA genes suppress tumors by repairing damage to DNA. This ongoing process helps prevent healthy cells from developing into cancer. However, when a BRCA 1 or 2 gene mutates, its ability to repair DNA damage is lost. Damage from the mutation accumulates and can develop into a cancerous tumor. 

Mutations in the BRCA 2 gene can increase the risk of pancreatic cancer by 3% to 10%, increasing the lifetime risk of pancreatic cancer to 10%. This mutation is found in 1% of people of Ashkenazi Jewish descent. The risk is much lower in other populations. 

A genetic counselor will screen you to determine if your family history indicates you’re a good candidate for this type of genetic testing. 

Other inherited genes linked to pancreatic cancer include:

  • CDKN2A is a gene that helps prevent cancer. If it mutates and loses its ability to prevent cancer, it increases the risk of developing pancreatic cancer. However, not everyone with a CDKN2A mutation will get cancer.
  • PALB2
  • ATM
  • Lynch Syndrome, most often caused by a defect in the MLH1 or MSH2 genes

Somatic Genetic Mutations Related to Pancreatic Cancer

The majority of pancreatic cancers are not caused by an inherited mutation. While some patients have no signs of a genetic mutation, others may have one or more of the following genet mutations:

  • KRAS - the most common mutation found in about 75% of all pancreatic cancer patients
  • BRAF
  • NTRK
  • RET
  • EGFR
  • HER2
The results of the biomarker tests will help define the best treatment option for each patient based on the specific gene mutation.

How Are Genetic Mutations Identified in Pancreatic Cancer Patients?

Biomarker testing, also called molecular testing or genomic testing, is used to find mutations that are associated with pancreatic cancer. The test analyzes blood samples and tissue biopsied from tumors to look for mutations. About 25% of pancreatic cancer patients have some type of alteration or mutation in their tumor cells.  

Your oncologist will use the results to determine which treatments will be most effective and cause the least side effects. The results also tell the oncologist:

  • How fast the cancer is growing
  • Which treatments are most likely to work
  • Whether or not the cancer is responding to treatment or growing
  • Whether or not the cancer has come back after remission

The American Society of Clinical Oncology (ASCO) and the Pancreatic Cancer Action Network encourage all pancreatic cancer patients to undergo biomarker testing.

Pancreatic Cancer Precision Medicine

At Compass Oncology, our pancreatic cancer specialists evaluate each patient to determine when and if surgery can be performed and to see if biomarkers are present, guiding the drug therapies that will be most effective.

Until recently, only chemotherapy drugs were used as the standard treatment for pancreatic cancer. Now that more and more biomarkers are being identified, patient treatment can be individualized, making it more effective.

Targeted therapies are used because they can “target” specific proteins or receptors on cancer cells that allow them to grow while minimizing harm to healthy cells. Targeted therapy empowers the patient’s immune system to detect and kill cancer cells.

Immunotherapy drugs boost the immune system to detect and attack cancer cells. These drugs also work to identify and attack cancer cells without impacting the healthy cells as much. 

Ongoing clinical research is also being conducted to find even more effective treatment options, giving patients with pancreatic cancer a better prognosis. Compass Oncology participates in these locally in the Portland and Vancouver areas.

Request an Appointment at Compass Oncology in Portland-Vancouver