Article Text

Download PDFPDF
Short report
Germline PALB2 mutation analysis in breast–pancreas cancer families


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.

  • Genetic predisposition to disease
  • PALB2
  • breast cancer
  • pancreatic cancer
  • clinical genetics
  • oncology
  • cancer: breast
  • other oncology

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.