Background: It is estimated that between 5% and 10% of pancreatic cancer (PC) cases are due to hereditary factors.
Methods: Review of the literature.
Results: In families with clustering of PC, germline mutations in specific genes might be responsible for the disease. It is suggested that PC progresses from precursor lesions, the pancreatic intraepithelial neoplasias (PanINs). Several key genetic alterations in oncogenes (K-ras, Her2/neu) and tumour suppressor genes (p16, p53, SMAD4) occur in the progression from PanIN lesions towards PC. PC is mostly diagnosed on clinical presentation at an advanced, no longer resectable, stage. The overall 5-year survival rate is extremely poor. Recent studies report a better survival rate of PC, providing surgery takes place at an early stage. Surveillance of family members at increased risk for PC might lead to detection of tumours at an early stage and improve overall survival.
Conclusion: Clinicians should be aware of the tumour syndromes that are associated with an increased risk of PC. Efforts to improve PC survival must focus on identification of high-risk patients, detection of early stage disease and novel screening strategies.
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