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Pancreatic Cancer Genetics

Cross-sectional view in a fused PET/CT scan shows a cancerous "hotspot" in the pancreas of a patient with jaundice.

Inherited gene mutations play a role in up to 25% of cases of pancreatic cancer. There is up to a 20-fold increase in the risk of pancreatic cancer in individuals with a family history of the disease. At least five distinct cancer syndromes account for a number of inherited pancreatic cancers:

• Familial atypical multiple mole melanoma syndrome (FAMMM);
• Peutz-Jeghers syndrome (PJS);
• Early-onset familial breast cancer syndrome due to BRCA1 or BRCA2 mutations;
• Hereditary non-polyposis colorectal cancer syndrome (HNPCC); and
• Hereditary pancreatitis.

The Muzzi Mirza Pancreatic Cancer Prevention and Genetics Program of the Pancreas Center at Columbia University, under the leadership of Harold Frucht, MD, Program Director, analyzes family and personal medical history and provides recommendations for pancreatic cancer screening, genetic counseling, and testing as appropriate. If there is a significant genetic risk, the center provides guidance and recommends an ongoing testing regimen so that patients may ultimately avoid the disease. This testing regimen involves imaging the pancreas with sensitive instruments to detect pre-cancerous abnormalities or small cancers that are surgically curable.