Familial pancreatic cancer syndromes

Endocrinol Metab Clin North Am. 2006 Jun;35(2):417-30, xi. doi: 10.1016/j.ecl.2006.02.016.

Abstract

Hereditary pancreatic cancer (PC) is rare and extremely heterogeneous, and it accounts for approximately 2% of all PC cases. The major component of hereditary PC is the familial pancreatic cancer syndrome. Although up to 20% of hereditary PC cases are associated with germline mutations in the BRCA2, CDKN2A, PRSS1,STKI1, or MMR genes, the major underlying gene defect(s) is still unknown. Although hereditary PC is rare, the data on PC families that have been collected by various study groups worldwide provide a unique opportunity to evaluate the natural history, causative gene alterations, new diagnosis and chemoprevention strategies as well as treatment modalities.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adenocarcinoma / genetics*
  • Dysplastic Nevus Syndrome / genetics
  • Female
  • Genes, BRCA1
  • Genes, BRCA2
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Humans
  • Male
  • Pancreatic Neoplasms / genetics*
  • Pedigree
  • Peutz-Jeghers Syndrome / genetics