Genetic testing for pancreatic cancer looks for abnormal changes - or mutations - in your genes. Genetic testing can help answer important questions about pancreatic cancer. It may help guide treatment for people diagnosed with pancreatic cancer or identify inherited gene changes that increase the risk of pancreatic cancer and other cancers.
There are two different types of genetic testing, and they answer different questions:
1. Tumour profiling (genomic profiling or somatic testing) looks at the genetic changes in a tumour to help guide treatment.
2. Germline testing (inherited genetic testing) looks for inherited gene changes (i.e. genes you were born with) that may increase your risk of developing pancreatic cancer.
Tumour profiling
Also called genomic profiling or somatic testing
What is tested? DNA from the tumour
What sample is used? Tumour tissue, or a blood sample (liquid biopsy) if tumour tissue isn't available.
What is it for? To identify genetic changes in a tumour that may help guide treatment decisions.
What could it help? Selecting targeted therapies and tailored treatment options specific to the tumour type.
Germline testing
Also called inhertited genetic testing
What is tested? DNA a person is born with.
What sample is used? Blood or saliva sample.
What is it for? To identify inherited gene changes in a person that may increase the risk of pancreatic cancer and other cancers.
What could it help? Identify people and families who may benefit from genetic counselling, testing or pancreatic cancer surveillance due to an increased risk.
What is tumour profiling?
Tumour profiling (also known as somatic testing, molecular profiling or genomic profiling) looks for genetic changes, known as mutations, in the pancreatic tumour itself. These changes can help the cancer grow or affect how it responds to certain treatments. They develop during a person's lifetime and are not inherited.
Every pancreatic cancer is different and tumour profiling helps build a detailed picture of the genetic make-up of the tumour. This information can help doctors make more informed decisions about treatment including identifying targeted therapies or clinical trials.
Tumour profiling is an important part of precision medicine, an approach to cancer care that aims to match each person with the treatments most likely to be effective based on the genetic characteristics of their tumour.
How does tumour profiling work?
1. Sample collected
A tumour tissue sample collected during a biopsy or surgery is used for testing. If tissue isn't available, a blood sample (liquid biopsy) may sometimes be used.
2. Comprehensive Genetic Profiling
The sample is analysed in a laboratory to identify genetic changes (mutations) that have developed in the pancreatic cancer cells.
3. Results reviewed
Your healthcare team reviews the results to identify any genetic changes that may be clinically relevant and discuss what they could mean for your care.
4. Personalised treatment options considered
The results may help guide treatment decisions, including targeted therapies or clinical trial options.
Pankind recommends that all people diagnosed with pancreatic cancer explore genomic testing, if they wish to, as soon as possible after diagnosis as it may provide important information.
Common genetic changes in pancreatic cancer
Multiple combinations of genetic changes are commonly seen in pancreatic cancers. Most of these changes are not inherited and happen over a person's lifetime.
Type of gene |
What it does |
Examples |
|---|---|---|
Oncogenes |
Genetic changes that drive cancer growth Some genetic changes turn on ‘oncogenes’. Normally, oncogenes help control cell growth and survival, but when mutated, they can cause cancer cells to divide and grow uncontrollably. |
KRAS (found in more than 90% of pancreatic cancers) |
Tumour supressor genes |
Loss of function in protective genes Some genes act as the body's natural defence system, helping to prevent cells from turning cancerous. When they stop working properly, cancer can grow and spread more easily. |
TP53, CDKN2A (p16), SMAD4 |
DNA repair genes |
DNA repair gene mutations Some genes help repair damaged DNA. When they don't work correctly, errors can build up in cells, increasing the risk of cancer. |
hMLH1, MSH2 |
Why do these changes changes matter?
Targeted treatments
Studies show that up to 25% of people with pancreatic cancer have specific genetic changes that may be targeted with specific treatments. These are called ‘actionable mutations’.
Personalised medicine
Doctors can use genetic profiling to match people with treatments or clinical trials that may be most likely to work based on their cancer’s unique genetic makeup.
Future research
Researchers continue to discover new genetic changes, helping improve our understanding of pancreatic cancer and develop more effective treatments.
Free access to genomic profiling (tumour profiling)
Omico can provide free comprehensive genomic profiling (CGP) for eligible Australians through its Cancer Screening Program, known as CaSP. This can help identify potential matches to biomarker-led clinical trials and other treatment options.
Everyone who has been diagnosed with pancreatic cancer, regardless of stage, can access this program with a referral from their oncologist.
The process usually takes 8-10 weeks from consent to receiving the reports, and in some urgent cases results can be provided in 5-6 weeks.
What is germline genetic testing?
Inherited genetic testing (also called germline genetic testing) looks at DNA from a person.
Unlike tumour profiling, which examines the cancer itself, inherited genetic testing uses a blood or saliva sample to look for genetic changes a person is born with, i.e. inherited from your parents.
There are a number of different types of genetic tests for the different types of variations and genetic conditions.
This testing is for both people who have been diagnosed with pancreatic cancer, and those wanting to better understand their inherited risk.
NSW based eviQ guidelines, along with international bodies such as the US National Comprehensive Cancer Network (NCCN) guidelines recommend considering germline testing in any person diagnosed with pancreatic cancer, as around 1 in 10 people will have an inherited gene change that can be passed on through their family.
1. Blood or saliva sample collected
2. DNA analysed
DNA is analysed to look for inherited gene changes known to increase the risk of pancreatic cancer and other cancers.
3. Results reviewed
Your healthcare team or genetic counsellor explains your results and what they may mean for you and your family.
4. Next steps discussed
Your healthcare team will discuss any recommended next steps, which may include treatment considerations, surveillance, genetic counselling or testing for family members.
Pancreatic cancer germline genetic testing can identify whether you carry inherited gene changes that put you at higher risk for pancreatic cancer. We recommend discussing germline genetic testing with your GP or pancreatic cancer specialist.
Why is genetic testing important?
Understand your risk
If you have pancreatic cancer or a strong family history, genetic testing may help determine whether an inherited gene change has contributed to your risk. Knowing your genetic status empowers you to take action.
Support informed family decisions
If an inherited gene change is identified, your children, siblings and parents may also carry it. Sharing this information allows family members to decide whether they would like genetic testing and, if appropriate, access genetic counselling to understand their options.
Inform future healthcare
Knowing whether you have an inherited gene change allows you to plan ahead and can help guide future healthcare, including recommendations for cancer screening, surveillance or genetic counselling where appropriate.
Surveillance for high risk individuals
If you have undergone genetic testing and are found to carry a high-risk gene fault, you may be eligible for screening programs like APRISE, a national screening study for individuals meeting the criteria for high risk. APRISE utilises surveillance through regular MRI or endoscopic ultrasound (EUS).
Related resources
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