The role of genetic factors in the etiology of pancreatic adenocarcinoma: an update

Cancer Invest. 2001;19(1):65-75. doi: 10.1081/cnv-100000076.


Pancreatic cancer is a disease with a very poor prognosis and its etiology is still largely elusive. The only consistent environmental risk factor is cigarette smoking. A previous history of pancreatitis or diabetes mellitus is also considered to be a risk factor. Epidemiological studies have confirmed that relatives of those with pancreatic cancer have an increased risk of this malignancy, and it has been evaluated that 3-5% of all pancreatic cancer cases are caused by genetic predisposition to the disease. Usually this occurs in the setting of a known inherited cancer syndrome caused by mutations in genes such as BRCA1/2 and CDKN2A. Whether or not a true site-specific pancreatic adenocarcinoma syndrome exists is not known. The real challenge for the management of high risk patients is to develop new screening methods than can identify pre-neoplastic or early neoplastic lesions in a timely manner.

Publication types

  • Review

MeSH terms

  • Adenocarcinoma / genetics*
  • Diabetes Complications
  • Family Health
  • Genetic Predisposition to Disease
  • Humans
  • Pancreatic Neoplasms / genetics*
  • Pancreatitis / complications
  • Proto-Oncogenes
  • Risk Factors
  • Syndrome