Microsatellite instability and loss of heterozygosity in mammary carcinoma and its probable precursors

Br J Cancer. 1997;76(2):156-62. doi: 10.1038/bjc.1997.357.


Microsatellite instability is a form of genetic damage that may be due to defective mismatch repair genes and may be a marker of processes leading to malignancy. We have analysed a series of epithelial hyperplasia of usual type, carcinomas in situ and invasive and metastatic carcinomas from the mammary gland on the assumption that they represent stages in the evolution of mammary carcinoma. Eight markers on chromosomes 3p, 4q, 9p, 11p, 14q, 17p, 17q and Xq were examined for microsatellite instability and loss of heterozygosity. High rates of loss on chromosomes 17p, 17q and Xq indicate that these chromosomal arms contain genes important in mammary carcinogenesis. The rate of microsatellite instability observed in this study was uniformly low, irrespective of the lesion. This implies that microsatellite instability is not a marker of malignancy in most instances of mammary neoplasia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Breast / chemistry
  • Breast / pathology
  • Breast Neoplasms / chemistry
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology
  • Carcinoma in Situ / chemistry
  • Carcinoma in Situ / genetics*
  • Carcinoma in Situ / pathology
  • Chromosome Deletion*
  • DNA, Neoplasm / chemistry
  • Epithelium / chemistry
  • Epithelium / pathology
  • Female
  • Genetic Markers
  • Heterozygote*
  • Humans
  • Hyperplasia / pathology
  • Lymph Nodes / chemistry
  • Lymph Nodes / pathology
  • Microsatellite Repeats / genetics*


  • DNA, Neoplasm
  • Genetic Markers