Mutation analysis of the putative tumor suppression gene PTEN/MMAC1 in sporadic breast cancer

Breast Cancer Res Treat. 1999 May;55(1):85-9. doi: 10.1023/a:1006142919428.

Abstract

PTEN/MMAC1, a potential human tumor suppressor gene, has been found to have inactivating mutations in several types of cancer, including breast cancer. The incidence of breast cancer in Chinese is quite low in comparison with Caucasians, and genetic factors may play some roles. To further determine the role of PTEN/MMAC1 in breast cancer in Chinese, we used loss of heterozygosity (LOH), single strand conformation polymorphism (SSCP) with direct sequencing of variant bands, and Southern blot analysis methods to analyze mutations in PTEN/MMAC1 in 52 cases of breast cancer. None had LOH at chromosome 10q23.3. One mutation was identified, a somatic 3-base deletion, in one case. Our results suggest PTEN/MMAC1 does not play a major role in the development of sporadic breast cancer.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Asian People / genetics*
  • Blotting, Southern
  • Breast Neoplasms / genetics*
  • China
  • Chromosomes, Human, Pair 10*
  • DNA Mutational Analysis
  • DNA Primers
  • DNA, Neoplasm / chemistry
  • Female
  • Gene Deletion
  • Genes, Tumor Suppressor / genetics*
  • Humans
  • Loss of Heterozygosity
  • Middle Aged
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational

Substances

  • DNA Primers
  • DNA, Neoplasm