Genetic Counseling

Being aware of your family health history is important for learning about your own cancer risk. Knowing the risk and symptoms of pancreatic cancer can lead to an early diagnosis and better prognosis. A family history of pancreatic cancer or being at higher risk does not mean that you will develop the disease. While learning about your genetic risk factors can bring up a range of emotions, the information can help you and your health care team find ways to lower your cancer risk.

Understanding Genetics

Genetics is the study of how characteristics are passed down through generations by genes. Genes are portions of DNA (deoxyribonucleic acid) inside our cells that are the code used to make the proteins our bodies need to function. DNA is a genetic “blueprint” each cell carries. Genes affect inherited traits such as hair and eye color; they also affect how likely you are to develop certain diseases, such as cancer.

Mutations, or changes in genes, play an important role in the development of cancer. Mutations in the DNA can cause cells to over- or under-produce proteins, causing cells to divide and grow out of control. When cells grow out of control or do not die off when they should, they create tumors. Pancreatic adenocarcinoma (PDAC), are tumors that develop in the tissue of the pancreas which produces digestive enzymes (the exocrine cells). Pancreatic neuroendocrine tumors (NETs), develop in hormone-producing endocrine or islet cells.

Most often, cancer develops because of acquired gene mutations that occur during your lifetime. In most pancreatic cancer cases, risk factors such as smoking, obesity, age and chronic pancreatitis seem to cause these DNA mutations. However, some pancreatic cancer is linked to an inherited gene mutation, known as hereditary or Familial Pancreatic Cancer (FPC). Familial Pancreatic Cancer (FPC) is a term used for families who do not have a known hereditary cancer syndrome but who have at least two immediate family members with pancreatic cancer. Approximately 10% of pancreatic cancer is hereditary.

Genetic Testing & Counseling

As of December 2019, the National Comprehensive Cancer Network (NCCN) recommends genetic testing for all pancreatic cancer patients. This is advised to help determine the best course of treatment as well as to learn if the cancer is hereditary. Genetic testing and risk assessment can lead to improved, targeted treatments for patients with an inherited gene mutation, and to increased surveillance and specialized care for relatives at risk.

Genetic testing uses medical tests to determine if there are mutations in a person’s genes, to identify any gene changes linked to cancer. Genetic counselors are healthcare professionals who work closely with families to identify a genetic cause to a particular disease in a family. Genetic counselors review data from medical tests and collect a family health history to evaluate a family’s risk of a potential medical condition. A genetic counselor can help provide risk assessment, facilitate the ordering of genetic testing, interpret genetic tests, navigate treatment options and cancer prevention strategies, as well as provide emotional support. Genetic testing and counseling can lead to changes in medical management that can reduce the chance of developing cancer or lead to increased surveillance for cancer with the goal of detecting cancer earlier when treatment options and outcomes are better.

When to Consider Genetic Counseling

Individuals should consider genetic counseling and testing if they are a first-degree relative of someone with pancreatic cancer.

You may wish to seek genetic counseling if you have:

  • Two first-degree relatives (such as a parent, child or siblings) with a history of pancreatic cancer
  • One first or second degree relative with pancreatic cancer and a family history of other cancers
  • Multiple family members with pancreatic cancer
  • Pancreatic cancer in two or more generations on the same side of the family
  • Early onset of pancreatic cancer (younger than 50 years old)
  • Diagnosis of more than one primary cancer in the same person

There are many genes that are known to increase your risk to develop pancreatic cancer and other cancers if you carry an inherited mutation. Some of these genes include the following:

  • PRSS1: inherited mutations in this gene cause hereditary pancreatitis. There are also other genes that are known to cause hereditary pancreatitis.
  • BRCA1, BRCA2, ATM, PALB2, MLH1, MSH2, EPCAM, MSH6, APC, STK11, and CDKN2A. If you carry an inherited mutation in one of these genes, changes to your medical management, screening and surveillance will be recommended to reduce your chances of developing cancer. These genes each have a different risk profile and different cancer risks depending on the individual gene.

Having a family history of pancreatic cancer, or having an inherited mutation in one of the hereditary cancer predisposition genes listed above, does not mean that you will develop the disease. Knowing the risk and symptoms can lead to an early diagnosis, and better outcomes. We are here to help you navigate risks as well as a diagnosis. Speak with Patient Support today.

To learn more about genetic counseling for pancreatic cancer, view Why Should I See a Genetic Counselor by Wendy Conlon, MS, CGC and Genetic Testing for Pancreatic Cancer by Mariana S. Niell-Swiller, MS.

There are thousands of genetic counselors across the US and Canada to either meet with in person or by telephone. Search for a genetic counselor near you.

View the complete NCCN guideline for pancreatic cancer here.