Prevalence of PALB2 mutation c.509_510delGA in unselected breast cancer patients from Central and Eastern Europe

Fam Cancer. 2014 Jun;13(2):137-42. doi: 10.1007/s10689-013-9684-1.

Abstract

Inherited mutations in PALB2 are known to be associated with increased breast cancer risk. We aimed to investigate the prevalence and risk association of a recurrent PALB2 mutation, c.509_510delGA, among 3,924 unselected breast cancer patients from Belarus, Russia or Germany. High-resolution melting analyses and direct sequencing identified the c.509_510delGA allele in 3/1,008 (0.3 %) German breast cancer patients, 2/994 (0.2 %) Russian breast cancer patients and 5/1,922 (0.3 %) Byelorussian breast cancer patients. Breast tumours were mainly estrogen receptor positive and included both ductal and lobular histology. Only one of the ten patients had a first-degree family history of breast cancer. The mutation was not detected in 2,827 healthy females from the same populations, confirming the association of PALB2*c.509_510delGA with breast cancer risk (p = 0.007). These data indicate that the PALB2*c.509_510delGA mutation is prevalent in about 1 in 400 breast cancer patients from Central and Eastern Europe, and the low occurrence of familial clustering is consistent with a moderate penetrance of this mutation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • Base Sequence
  • Breast Neoplasms / genetics*
  • Carcinoma, Ductal, Breast / genetics*
  • Carcinoma, Lobular / genetics*
  • Case-Control Studies
  • DNA Mutational Analysis
  • Fanconi Anemia Complementation Group N Protein
  • Female
  • Genetic Predisposition to Disease / genetics
  • Germany
  • Humans
  • Middle Aged
  • Nuclear Proteins / genetics*
  • Penetrance
  • Republic of Belarus
  • Russia
  • Sequence Deletion*
  • Tumor Suppressor Proteins / genetics*
  • White People / genetics*

Substances

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