A new high frequency polymorphism in the HER-2/neu oncogene in normal tissue and breast tumors

Breast Cancer Res Treat. 1993 Oct;28(1):45-9. doi: 10.1007/BF00666355.

Abstract

The HER-2/neu (erbB-2) oncogene, if amplified and/or overexpressed in breast and ovarian cancers, is associated with a poor prognosis. Employing direct DNA sequencing, we have discovered and sequenced an 80 base pair intron from human placenta which contains an A to G polymorphism. This polymorphism lends itself to restriction fragment length polymorphism analysis of the PCR product spanning this intron. All three genotypes, homozygous A, heterozygous, and homozygous G appear in normal control populations and breast tumors. Also, no difference was seen between the polymorphic form found in five breast cancers and the corresponding normal tissue.

MeSH terms

  • Base Sequence
  • Breast / physiology*
  • Breast Neoplasms / genetics*
  • DNA, Neoplasm / analysis
  • DNA, Neoplasm / genetics
  • Deoxyribonucleases, Type II Site-Specific / metabolism
  • Female
  • Genetic Variation
  • Genotype
  • Humans
  • Introns / genetics
  • Lymphocytes / chemistry
  • Molecular Sequence Data
  • Oncogene Proteins, Viral / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic / genetics*
  • Receptor, ErbB-2

Substances

  • DNA, Neoplasm
  • Oncogene Proteins, Viral
  • Receptor, ErbB-2
  • CCSGG-specific type II deoxyribonucleases
  • Deoxyribonucleases, Type II Site-Specific

Associated data

  • GENBANK/M86910