PALB2 mutations in German and Russian patients with bilateral breast cancer

Breast Cancer Res Treat. 2011 Apr;126(2):545-50. doi: 10.1007/s10549-010-1290-4. Epub 2010 Dec 17.


Since germline mutations in the PALB2 (Partner and Localizer of BRCA2) gene have been identified as breast cancer (BC) susceptibility alleles, the geographical spread and risks associated with PALB2 mutations are subject of intense investigation. Patients with bilateral breast cancer constitute a valuable group for genetic studies. We have thus scanned the whole coding region of PALB2 in a total of 203 German or Russian bilateral breast cancer patients using an approach based on high-resolution melting analysis and direct sequencing of genomic DNA samples. Truncating PALB2 mutations were identified in 4/203 (2%) breast cancer patients with bilateral disease. The two nonsense mutations, p.E545X and p.Q921X, have not been previously described whereas the two other mutations, p.R414X and c.509_510delGA, are recurrent. Our results indicate that PALB2 germline mutations account for a small, but not negligible, proportion of bilateral breast carcinomas in German and Russian populations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology
  • Codon, Nonsense
  • Fanconi Anemia Complementation Group N Protein
  • Female
  • Frameshift Mutation
  • Germ-Line Mutation
  • Germany / epidemiology
  • Humans
  • Middle Aged
  • Mutation, Missense
  • Nuclear Proteins / genetics*
  • Polymorphism, Single Nucleotide
  • Russia / epidemiology
  • Tumor Suppressor Proteins / genetics*


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