Germline PALB2 mutation analysis in breast-pancreas cancer families. Academic Article uri icon



  • BACKGROUND: Germline mutations in the PALB2 gene have been implicated in both breast cancer and pancreatic cancer susceptibility. The extent to which PALB2 mutations account for cancer susceptibility in breast-pancreas cancer families is unknown. METHODS: High Resolution Melting analysis and Multiplex Ligation-dependent Probe Amplification were performed to investigate the prevalence of PALB2 mutations in patients with either a personal history of both breast and pancreatic cancer or a personal history of breast cancer and a family history of a first degree relative with pancreatic cancer. RESULTS: No PALB2 mutations were identified in 77 breast-pancreas cancer families, which included 22 probands with a personal history of both breast and pancreatic cancer. CONCLUSION: Mutations within the PALB2 gene are rare events that do not account for a substantial proportion of cancer susceptibility in breast-pancreas cancer families. Routine screening of breast-pancreas cancer families for the presence of PALB2 mutations appears to be low yield.

publication date

  • March 17, 2011



  • Breast Neoplasms
  • Germ-Line Mutation
  • Nuclear Proteins
  • Pancreatic Neoplasms
  • Tumor Suppressor Proteins


Scopus Document Identifier

  • 79961127649

Digital Object Identifier (DOI)

  • 10.1136/jmg.2010.087379

PubMed ID

  • 21415078

Additional Document Info


  • 48


  • 8