Answering 4 Important Questions about Genetic Testing for Hereditary Pancreatic Cancer

Hearing the words pancreatic cancer brings to mind thoughts of my neighbor, a gentle man and a physician well loved by the community, who in the 1990s suddenly was diagnosed with this disease and passed away. Pancreatic cancer is rare until you know someone who has the disease. With so many advancements in our understanding of pancreatic cancer, I am confident that my neighbor’s outcome would be different today.  I am optimistic that things like improvements in surveillance for early detection and our ability to identify individuals at a higher risk for pancreatic cancer through genetic testing will transform the outlook for patients and families affected by this disease. Since the mid-1990s when the breast cancer genes, BRCA1 and BRCA2 were discovered, there have been countless families who have been spared the sadness of a loss due to cancer because we can now identify families who are at high genetic risk. 

Here are some important things to know about genetic testing for hereditary pancreatic cancer:

  1. How often is pancreatic cancer hereditary? About 5-10% of cancer is thought to be hereditary. Several recent studies, including 2 from Ambry, have helped us to better understand how often pancreatic cancer is linked to a hereditary cause. Based on these studies, up to 20% of people diagnosed with pancreatic cancer may have an inherited mutation (like a spelling error) in a gene that is associated with this disease.1-4
  2. Which genes are linked to pancreatic cancer risk? Historically, little was understood about the genetics of pancreatic cancer. Genes like BRCA2, which is associated with hereditary breast and ovarian cancer, were identified to also be associated with an increased risk for pancreatic cancer. More recently, additional genes such as ATM, CDKN2A, MSH2, MSH6, PALB2, and TP53, have been identified as high risk genes for pancreatic cancer.2Therefore, multigene panel testing, such as PancNext, may help to identify more patients with hereditary pancreatic cancer.
  3. Who may benefit from genetic testing for pancreatic cancer?  It is important for both patients and healthcare providers to understand who may benefit from genetic testing, so that more patients with hereditary cancer can be identified. Most recent guidelines indicate that anyone with a personal diagnosis of pancreatic cancer or a family history of a close relative with pancreatic cancer qualify for genetic testing.5 Keeping an eye out for a family history of other related cancers , such as breast, ovarian, and colorectal cancer, can be important for identifying patients with hereditary pancreatic cancer.
  4. How can genetic testing help patients with pancreatic cancer and their family members? When a patient is identified to have hereditary pancreatic cancer, the question is often “Now what?” Knowing if someone has a mutation in a pancreatic cancer gene can often guide tailored screening, prevention, and sometimes considerations for clinical trial eligibility. Close family members of someone with hereditary pancreatic cancer can also be tested to determine if they are at increased risk. Knowing can mean early detection and prevention!

In the coming years I hope that everyone affected by pancreatic cancer will have the opportunity to understand their genetic risk and be able to take advantage of that knowledge for tailored treatment planning and early detection and prevention in family members.

Learn about genetic testing for hereditary pancreatic cancer. 


1. Brand et al. Prospective Study of Germline Genetic Testing in Incident Cases of Pancreatic Adenocarcinoma. Cancer. August 2018.

2. Hu et al. Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes. JCO Precision Oncology. July 2018.

3. Hu et al. Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. AMA. 2018.

4. Yurgelun et al. Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer. Genetics in Medicine. July 2018

5. National Comprehensive Cancer Network®. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 2.2019. Accessed August 10, 2018. Available from

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