High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11)

Genes Chromosomes Cancer. 2006 Oct;45(10):945-9. doi: 10.1002/gcc.20358.

Abstract

In a family with a high incidence of postmenopausal breast cancer and a case of glioblastoma, the constitutional translocation t(11;22)(q23;q11.2) was shown to segregate with the malignancies. The breakpoints in this family coincided with the common breakpoints in t(11;22) as shown by a translocation-specific PCR assay. Loss of heterozygosity analysis of breast tumor tissue revealed deletion of the normal chromosome 22, but retention of der(22) in the tumor cells, suggesting a predisposing effect of the der(22) for breast and brain tumor development in this family.

MeSH terms

  • Adult
  • Aged
  • Brain Neoplasms / complications
  • Brain Neoplasms / genetics
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics*
  • Chromosomes, Human, Pair 11*
  • Chromosomes, Human, Pair 22*
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Incidence
  • Male
  • Middle Aged
  • Pedigree
  • Polymerase Chain Reaction
  • Translocation, Genetic*