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Familial pancreatic cancer (FPC) is the occurrence of pancreatic cancer in two or more first-degree relatives (parent and child, or two siblings). It is sometimes referred to as FPC only when there is not a known hereditary cancer syndrome in an affected family. In familial cases, pancreatic cancer often occurs before age 50 (earlier than other forms of pancreatic cancer). In 60% of cases it occurs within the head of the pancreas. Symptoms of pancreatic cancer are generally non-specific and may include pain in the upper abdomen that radiates to the back; loss of appetite; significant weight loss; and jaundice due to bile duct obstruction. Pancreatic cancer often goes undetected until the advanced stages of the disease, and rapid tumor growth and metastasis are common.
A specific genetic cause of FPC (in the absence of a known syndrome) has not been identified. Familial cases of pancreatic cancer due to hereditary conditions may be caused by mutations in any of several genes. Individuals who carry a mutation in one of these genes are often at an increased risk of other types of cancers as well. Currently, only 10-20% of families with FPC will have a mutation identified by genetic testing. Hereditary cancer syndromes and other inherited conditions associated with pancreatic cancer include:
In many cases, inheritance of FPC is autosomal dominant; in some cases, is may be multifactorial. It is important to note that pancreatic cancer itself is not inherited, but a genetic predisposition to developing cancer is inherited.
Treatment may include surgical resection, chemotherapy, and/or radiotherapy. Resection is the only potential cure, but most patients have advanced, non-resectable tumors by the time of diagnosis.
Source: GARD Last updated on 07-06-20
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:
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
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
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