Familial 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.^[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:

• BRCA1 hereditary breast and ovarian cancer syndrome
• BRCA2 hereditary breast and ovarian cancer syndrome
• Peutz-Jeghers syndrome
• FAMMM syndrome
• Lynch syndrome
• Hereditary pancreatitis^[1]

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]

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.

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• 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