Familial pancreatic cancer

What are the genetic testing and screening recommendations for people at increased risk for familial pancreatic cancer?

It is estimated that only 10-20% of families with familial pancreatic cancer (FPC) will have a mutation identified by genetic testing. This is because only some of the gene changes that increase pancreatic cancer risk can be tested for. In the absence of a known hereditary cancer syndrome or other inherited disorder associated with pancreatic cancer, a specific genetic cause for FPC has not yet been identified. In these cases, medical and family histories are relied upon to determine if family members may be at increased risk. When considering genetic testing, talking to someone with experience in hereditary cancers such as a genetic counselor, geneticist, or oncologist is strongly recommended.

Genetic testing for suspected familial pancreatic cancer may include analysis of the BRCA1 , BRCA2 , CDKN2A , PALB2 , and ATM genes. Evaluation for Peutz-Jeghers syndrome, Lynch syndrome, or hereditary pancreatitis-associated genes may be considered if other personal and/or family history criteria are met for these conditions. Genetic counseling with a genetics professional or oncologist can help people determine whether genetic testing is appropriate, and which specific tests would be informative. The Pancreatic Cancer Action network provides useful information about genetic counseling for a family history of pancreatic cancer.

Guidelines for optimal screening strategies for people determined to be at risk for familial pancreatic cancer have been published by the International Cancer of the Pancreas Screening (CAPS) Consortium and the American College of Gastroenterology (ACG).

According to ACG, people should be considered at increased risk for familial pancreatic cancer if they:

  • have a known genetic syndrome associated with pancreatic cancer or other gene mutations associated with an increased risk of pancreatic adenocarcinoma; or
  • have two relatives with pancreatic adenocarcinoma, where one is a first-degree relative; or
  • have three or more relatives with pancreatic cancer; or
  • have a history of hereditary pancreatitis

The guidelines recommend that surveillance of those with a genetic predisposition should ideally be performed in experienced centers using a multidisciplinary approach and under research conditions. Tests used for surveillance may include endoscopic ultrasound and/or MRI of the pancreas annually starting at age 50, or 10 years younger than the earliest age of pancreatic cancer in the family. Doctors have been able to find early, treatable pancreatic cancers in some members of high-risk families with endoscopic ultrasound. People with Peutz-Jeghers syndrome may start surveillance earlier.

Last updated on 05-01-20

Should people at increased risk for familial pancreatic cancer have CA 19-9 blood tests?

CA 19-9 is a tumor marker, a substance that is produced by cancer cells or other cells of the body in response to cancer (or other conditions). CA 19-9 and another tumor marker, carcinoembryonic antigen (CEA), are the ones most closely tied to pancreatic cancer. However, not every person with pancreatic cancer will have elevated levels of these markers; and even when levels are elevated, the cancer is often already advanced. Additionally, sometimes levels of these tumor markers are elevated when a person doesn’t have pancreatic cancer. For these reasons, blood tests such as CA 19-9 are not used as screening tests for pancreatic cancer (unless ordered when a person has symptoms that may be caused by pancreatic cancer). These blood tests may be used in people already diagnosed with pancreatic cancer, to help determine if treatment is working or if the cancer is progressing.

People at increased risk for familial pancreatic cancer who have questions about screening and testing are strongly encouraged to speak with an oncologist or a genetics professional.

Last updated on 05-01-20

Name: American Cancer Society 250 Williams Street NW
Atlanta, GA, 30329, United States
Toll Free: 1-800-227-2345 Url: https://www.cancer.org
Name: Pancreatic Cancer Action Network 2141 Rosecrans Ave, Suite 7000
El Segundo, CA, 90245, United States
Phone: 310-725-0025 Toll Free: 877-272-6226 Fax : 310-725-0029 Email: info@pancan.org Url: http://www.pancan.org
Name: National Pancreas Foundation 3 Bethesda Metro Center, Suite 700
Bethesda, MD, 20814, United States
Phone: +1-301-961-1508 Toll Free: 1-866-726-2737 Email: info@pancreasfoundation.org Url: https://pancreasfoundation.org/
Name: Pancreatic Cancer UK 6th Floor Westminster Tower 3 Albert Embankment
London SE1 7SP, United Kingdom
Phone: +44 (0)20 3535 7090 Email: enquiries@pancreaticcancer.org.uk Url: http://www.pancreaticcancer.org.uk/
Name: National Pancreatic Cancer Foundation NPCF P.O. Box 1848
Longmont, CO, 80502, United States
Toll Free: 800-859-NPCF (6723) Fax : 855-859-HOPE (4673) Email: info@npcf.us Url: http://www.npcf.us/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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