The role of genetic factors in the etiology of pancreatic adenocarcinoma: an update.
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.
Chappuis
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PO
Division of Medical Genetics, Department of Medicine, McGill University, Montreal General Hospital, Montreal, QC, Canada. pierre.chappuis@mahe.mcgill.ca
Ghadirian
P
P
Foulkes
W D
WD
D000230:Adenocarcinoma / Q000235:genetics*; D048909:Diabetes Complications; D005192:Family Health; D020022:Genetic Predisposition to Disease; D006801:Humans; D010190:Pancreatic Neoplasms / Q000235:genetics*; D010195:Pancreatitis / Q000150:complications; D011519:Proto-Oncogenes; D012307:Risk Factors; D013577:Syndrome