Prevention of pancreatic cancer and strategies for management of familial pancreatic cancer

At the current time, pancreatic cancer remains a difficult and typically fa tal disease. A number of case reports and case-control epidemiologic studie s have suggested that familial aggregation plays a role in as many as 10% o f all pancreatic cancers. During the last several years, genetic alteration s responsible for syndromes linked with pancreatic cancer have been identif ied. These genes include BRCA2, p16, PRSS1, STK11, and various mismatch rep air genes. Unfortunately, most kindreds with a familiar aggregation cannot be explained by one of these known genetic syndromes. Recent data from the National Familial Pancreas Tumor Registry at Johns Hopkins have estimated t he prospective risk of pancreatic cancer among first-degree relatives of pa ncreatic cancer patients. The risk was estimated by comparing observed new cases of pancreatic cancer to expected numbers. In families where three fir st-degree relatives had been diagnosed with pancreatic cancer, the risk of another individual developing pancreatic cancer rose to a 57-fold increase over the basal risk. This article reviews the data concerning familial panc reatic cancer. Additionally, this article reviews the data concerning the h istological precursors of invasive ductal adenocarcinoma of the pancreas: p ancreatic intraepithelial neoplasias. Further, the current Johns Hopkins me thodology used to screen for early pancreatic neoplasia in familial pancrea tic cancer patients and in patients with familial Peutz-Jeghers syndrome is discussed. In summary, the notable advances in the field of molecular gene tics have allowed for a better definition of the genetics of pancreatic can cer. With this knowledge has evolved a better understanding of several high -risk clinical syndromes associated with pancreatic cancer, familial pancre atic cancer, and the evolution of strategies to screen high-risk families f or early pancreatic neoplasia. Copyright (C) 2001 S. Karger AG, Basel.