Genetic Testing by Cancer SiteGenetic Testing by Cancer Site PancreasAxilbund, Jennifer E. MS; Wiley, Elizabeth A. MSAuthor Information From the Department of Oncology, The Johns Hopkins University School of Medicine, Baltimore, MD. The authors have disclosed that they have no significant relationships with, or financial interest in, any commercial companies pertaining to this article. Reprints: Jennifer E. Axilbund, MS, The Johns Hopkins School of Medicine, 550 North Broadway, Suite 410, Baltimore, MD 21205. E-mail: [email protected]. The Cancer Journal: July/August 2012 - Volume 18 - Issue 4 - p 350-354 doi: 10.1097/PPO.0b013e3182624694 Buy Metrics Abstract It is estimated that 5% to 10% of pancreatic cancer is familial. Although there is evidence of a major pancreatic cancer susceptibility gene, the majority of families with multiple cases of pancreatic cancer do not have an identifiable causative gene or syndrome. However, a subset of pancreatic cancer is attributable to known inherited cancer predisposition syndromes, including several hereditary breast cancer genes (BRCA1, BRCA2, and PALB2), CDKN2A, hereditary pancreatitis, hereditary nonpolyposis colorectal cancer, and Peutz-Jeghers syndrome. In addition to explaining a proportion of familial pancreatic cancer, individuals with these conditions are at increased risk for pancreatic cancer. Relatives from familial pancreatic cancer kindreds without one of these identifiable syndromes may have as high as a 32-fold risk of pancreatic cancer, depending on the number of affected first-degree relatives. Such high-risk individuals may benefit from increased surveillance, and strategies for early detection of pancreatic cancer are under evaluation. © 2012 Lippincott Williams & Wilkins, Inc.