PALB2 mutations in European familial pancreatic cancer families

Clin Genet. 2010 Nov;78(5):490-4. doi: 10.1111/j.1399-0004.2010.01425.x.


Recently, PALB2 was reported to be a new pancreatic cancer susceptibility gene as determined by exomic sequencing, as truncating PALB2 mutations were identified in 3 of 96 American patients with familial pancreatic cancer (FPC). Representing the European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer (EUROPAC) and the German National Case Collection for Familial Pancreatic Cancer (FaPaCa), we evaluated whether truncating mutations could also be detected in European FPC families. We have directly sequenced the 13 exons of the PALB2 gene in affected index patients of 81 FPC families. An index patient was defined as the first medically identified patient, stimulating investigation of other members of the family to discover a possible genetic factor. None of these patients carried a BRCA2 mutation. We identified three (3.7%) truncating PALB2 mutations, each producing different stop codons: R414X, 508-9delAG and 3116delA. Interestingly, each of these three families also had a history of breast cancer. Therefore, PALB2 mutations might be causative for FPC in a small subset of European families, especially in those with an additional occurrence of breast cancer.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Breast Neoplasms / complications
  • Breast Neoplasms / genetics
  • Fanconi Anemia Complementation Group N Protein
  • Female
  • Germ-Line Mutation
  • Humans
  • Male
  • Middle Aged
  • Nuclear Proteins / genetics*
  • Pancreatic Neoplasms / complications
  • Pancreatic Neoplasms / genetics*
  • Tumor Suppressor Proteins / genetics*
  • White People / genetics*


  • Fanconi Anemia Complementation Group N Protein
  • Nuclear Proteins
  • PALB2 protein, human
  • Tumor Suppressor Proteins