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

Abstract

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.