National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Familial pancreatic cancer


Other Names:
Hereditary pancreatic carcinoma; Familial pancreatic carcinoma; Hereditary pancreatic cancer
Categories:
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.[1] 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.[2]

A specific genetic cause of FPC (in the absence of a known syndrome) has not been identified.[1] Familial cases of pancreatic cancer due to hereditary conditions may be caused by mutations in any of several genes.[1] 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.[3] 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.[2]
Last updated: 9/27/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Pancreatic adenocarcinoma 0006725
80%-99% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain
[ more ] 		0002027
Anorexia 0002039
Back pain 0003418
Chronic fatigue
Chronic extreme exhaustion
0012432
Exocrine pancreatic insufficiency
Inability to properly digest food due to lack of pancreatic digestive enzymes
0001738
Poor appetite
Decreased appetite
0004396
Weight loss 0001824
30%-79% of people have these symptoms
Extrahepatic cholestasis 0012334
Functional intestinal obstruction 0005249
Intestinal pseudo-obstruction 0004389
Jaundice
Yellow skin
Yellowing of the skin
[ more ] 		0000952
Lymphadenopathy
Swollen lymph nodes
0002716
5%-29% of people have these symptoms
Breast carcinoma
Breast cancer
0003002
Colon cancer 0003003
Diabetes mellitus 0000819
Elevated hepatic transaminase
High liver enzymes
0002910
Hepatosplenomegaly
Enlarged liver and spleen
0001433
Intermittent diarrhea 0002254
Melanoma 0002861
Nausea and vomiting 0002017
Neoplasm of the liver
Liver cancer
Liver tumor
[ more ] 		0002896
Ovarian carcinoma 0025318
Peritoneal abscess 0100592
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Last updated: 7/1/2020

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include a wide variety of diseases such as acute and chronic pancreatitis, cholangitis, cholecystitis, cholelithiasis, bile duct tumors and strictures, and gastric cancer and ulcers.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Familial pancreatic cancer. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Familial pancreatic cancer:
    Pancreatic Cancer Action Network Patient Registry
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The American Cancer Society provides more information on Familial pancreatic cancer.
  • Cancer.net provides oncologist-approved cancer information from the American Society of Clinical Oncology and has information about Familial pancreatic cancer.
  • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Familial pancreatic cancer. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Both my mother and maternal aunt have been diagnosed with pancreatic adenocarcinoma. My question is: I have three siblings all in our late 40s, and three cousins the same. What are the recommendations for genetic testing and screening? My sister had an MRI, I'm not sure I will get it covered. Should we also be doing CA 19-9 blood tests (which were high in both my mother and aunt)? See answer


  1. Marcia Irene Canto. Familial risk factors for pancreatic cancer and screening of high-risk patients. UpToDate. Waltham, MA: UpToDate; August, 2016;
  2. Dominique-Charles Valla. Familial pancreatic carcinoma. Orphanet. September, 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1333.
  3. Familial pancreatic cancer. Cancer.Net, American Society of Clinical Oncology. December, 2015; http://www.cancer.net/cancer-types/familial-pancreatic-cancer.