Identification of genetic risk for pancreatic adenocarcinoma

Cancer Genet. 2015 Nov;208(11):559-63. doi: 10.1016/j.cancergen.2015.09.002. Epub 2015 Sep 24.


Recent consortium guidelines support research-based screening for those at high risk of pancreatic cancer (pancreatic ductal adenocarcinoma (PDAC)). Genetic testing plays an important role in the establishment of high-risk PDAC research clinics by delineating those individuals who would benefit from screening protocols. We retrospectively examined patients referred for PDAC-related genetic testing from January 2009 to June 2014. Patients were referred for a personal and/or family history of PDAC or a questioned diagnosis of hereditary pancreatitis (HP). Of the 75 referred patients, 36 underwent testing, of which 11 (31%) were mutation-positive. In total, 36% of patients with chronic pancreatitis carried a mutation, 11% of patients with a family history of PDAC carried a mutation, and 20% of patients with a personal history of PDAC carried a mutation. The most common barrier to testing was lack of insurance coverage. Genetic testing yields a suitable number of mutation-positive individuals who may benefit from increased screening. Subjects with possible HP yielded the highest positive rate. Individuals with idiopathic pancreatitis, onset of pancreatitis before the age of 30 years, and those with a family history of PDAC should be considered for testing. Sub-optimal insurance coverage remains a major deterrent to obtaining testing.

Keywords: Genetic testing; Pancreatic cancer; Pancreatitis.

MeSH terms

  • Carcinoma, Pancreatic Ductal / genetics*
  • Early Detection of Cancer / methods
  • Genetic Predisposition to Disease
  • Genetic Testing / methods*
  • Humans
  • Mutation
  • Pancreatic Neoplasms / genetics*
  • Pancreatitis, Chronic / complications
  • Pancreatitis, Chronic / genetics*
  • Retrospective Studies
  • Risk Factors