Analysis of the 10q23 chromosomal region and the PTEN gene in human sporadic breast carcinoma

Br J Cancer. 1999 Feb;79(5-6):718-23. doi: 10.1038/sj.bjc.6690115.

Abstract

We examined a panel of sporadic breast carcinomas for loss of heterozygosity (LOH) in a 10-cM interval on chromosome 10 known to encompass the PTEN gene. We detected allele loss in 27 of 70 breast tumour DNAs. Fifteen of these showed loss limited to a subregion of the area studied. The most commonly deleted region was flanked by D10S215 and D10S541 and encompasses the PTEN locus. We used a combination of denaturing gradient gel electrophoresis and single-strand conformation polymorphism analyses to investigate the presence of PTEN mutations in tumours with LOH in this region. We did not detect mutations of PTEN in any of these tumours. Our data show that, in sporadic breast carcinoma, loss of heterozygosity of the PTEN locus is frequent, but mutation of PTEN is not. These results are consistent with loss of another unidentified tumour suppressor in this region in sporadic breast carcinoma.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Breast Neoplasms / genetics*
  • Centromere / genetics
  • Chromosome Mapping
  • Chromosomes, Human, Pair 10*
  • DNA, Neoplasm / genetics
  • Female
  • Genes, Tumor Suppressor*
  • Humans
  • Loss of Heterozygosity*
  • Microsatellite Repeats
  • PTEN Phosphohydrolase
  • Phosphoric Monoester Hydrolases / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational*
  • Tumor Suppressor Proteins*

Substances

  • DNA, Neoplasm
  • Tumor Suppressor Proteins
  • Phosphoric Monoester Hydrolases
  • PTEN Phosphohydrolase
  • PTEN protein, human