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Genetic susceptibility to pancreatic cancer.


Pancreatic cancer is the fourth leading cause of cancer death in both men and women in the United States. However, it has the poorest prognosis of any major tumor type, with a 5-yr survival rate of approximately 5%. Cigarette smoking, increased body mass index, heavy alcohol consumption, and a diagnosis of diabetes mellitus have all been demonstrated to increase risk of pancreatic cancer. A family history of pancreatic cancer has also been associated with increased risk suggesting inherited genetic factors also play an important role, with approximately 5-10% of pancreatic cancer patients reporting family history of pancreatic cancer. While the genetic basis for the majority of the familial clustering of pancreatic cancer remains unclear, several important pancreatic cancer genes have been identified. These consist of high penetrance genes including BRCA2 or PALB2, to more common genetic variation associated with a modest increase risk of pancreatic cancer such as genetic variation at the ABO blood group locus. Recent advances in genotyping and genetic sequencing have accelerated the rate at which novel pancreatic cancer susceptibility genes have been identified with several genes identified within the past few years. This review addresses our current understanding of the familial aggregation of pancreatic cancer, established pancreatic cancer susceptablity genes and how this knowledge informs risk assessment and screening for high-risk families.


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  • Authors+Show Affiliations

    Department of Oncology and Pathology, Sol Goldman Pancreatic Cancer Research Center, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland 21231, USA.


    Molecular carcinogenesis 51:1 2012 Jan pg 14-24


    Colorectal Neoplasms, Hereditary Nonpolyposis
    Early Detection of Cancer
    Genes, BRCA1
    Genes, BRCA2
    Genes, Neoplasm
    Genes, p16
    Genetic Predisposition to Disease
    Nuclear Proteins
    Pancreatic Neoplasms
    Peutz-Jeghers Syndrome
    Protein-Serine-Threonine Kinases
    Risk Factors
    Tumor Suppressor Proteins

    Pub Type(s)

    Journal Article
    Research Support, N.I.H., Extramural
    Research Support, Non-U.S. Gov't



    PubMed ID