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Disease Profile

Familial pancreatic cancer

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

1-9 / 1 000 000

US Estimated

Europe Estimated

Age of onset

Adult

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ICD-10

C25

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Hereditary pancreatic carcinoma; Familial pancreatic carcinoma; Hereditary pancreatic cancer

Categories

Congenital and Genetic Diseases; Digestive Diseases; Rare Cancers

Summary

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]

Symptoms

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.

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
Do you have updated information on this disease? We want to hear from you.

Organizations

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

      Learn more

      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.

          References

          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; https://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; https://www.cancer.net/cancer-types/familial-pancreatic-cancer.