Familial pancreatic cancer

Other Names: Hereditary pancreatic carcinoma; Familial pancreatic carcinoma; Hereditary pancreatic cancer

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.

Cause

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.

Increased risk of pancreatic cancer is now known to be associated with several inherited syndromes for which the predisposing genes have been identified, including BRCA1, BRCA2, CDKN2A, mismatch repair genes associated with Lynch syndrome, and hereditary pancreatitis-related genes, PRSS1 and SPINK2.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

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.

Signs and symptoms

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.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 100% of people have these symptoms

• Pancreatic adenocarcinoma

80%-99% of people have these symptoms

• Abdominal pain(Pain in stomach)
• Anorexia
• Back pain
• Chronic fatigue(Chronic extreme exhaustion)
• Exocrine pancreatic insufficiency(Inability to properly digest food due to lack of pancreatic digestive enzymes)
• Poor appetite(Decreased appetite)
• Weight loss

30%-79% of people have these symptoms

• Extrahepatic cholestasis
• Functional intestinal obstruction
• Intestinal pseudo-obstruction
• Jaundice(Yellow skin)
• Lymphadenopathy(Swollen lymph nodes)

5%-29% of people have these symptoms

• Breast carcinoma(Breast cancer)
• Colon cancer
• Diabetes mellitus
• Elevated hepatic transaminase(High liver enzymes)
• Hepatosplenomegaly(Enlarged liver and spleen)
• Intermittent diarrhea
• Melanoma
• Nausea and vomiting
• Neoplasm of the liver(Liver cancer)
• Ovarian carcinoma
• Peritoneal abscess

Diagnosis

FPC will have a mutation identified by genetic testing.

Treatment

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.

NIH genetic and rare disease info

• NIH info on Familial pancreatic cancer

Familial pancreatic cancer is a rare disease.

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