Familial pancreatic cancer

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations


Inherited genetic changes, from high-penetrance mutations to common genetic variants of modest effect, play a significant role in pancreatic cancer risk both in the familial and nonfamilial forms of the disease. Approximately 20% of the familial clustering of pancreatic cancer is explained by inherited mutations in BRCA2, BRCA1, CDKN2A, PALB2, ATM, PRSS1, STK11, MLH1, MSH2, MHS6, and PMS2. Even among families without an identifiable germline mutation, the presence of a family history of pancreatic cancer is a strong risk factor for the development of pancreatic cancer. Given the substantial increased risk of pancreatic cancer associated with a family history, many clinical trials aimed at the early detection of pancreatic cancer in this population are underway. The goal of this chapter is to review the evidence supporting the importance of a family history of pancreatic cancer as a risk factor for pancreatic cancer and the clinical and pathological features of familial pancreatic cancer.

Original languageEnglish (US)
Title of host publicationPancreatic Cancer
PublisherSpringer New York
Number of pages20
ISBN (Electronic)9781493971930
ISBN (Print)9781493971916
StatePublished - Apr 11 2018


  • ATM
  • BRCA2
  • Familial pancreatic cancer
  • Inherited susceptibility

ASJC Scopus subject areas

  • Medicine (miscellaneous)


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