Allelic loss on chromosome 17p and p53 mutations in human endometrial carcinoma of the uterus

Cancer Res. 1991 Oct 15;51(20):5632-5.

Abstract

To understand the involvement of allelic losses and inactivation of tumor suppressor genes for the development of endometrial carcinoma of the uterus (EC), 24 cases of EC were examined for loss of heterozygosity (LOH) using a total of 57 polymorphic DNA markers covering all 23 pairs of chromosomes. LOH was observed at 27 loci on 10 different chromosomes, i.e., chromosomes 1, 3, 6, 11, 13, 15, 17, 18, 20, and 21, but was not detected at loci on chromosomes 4, 5, 7, 9, 10, 12, 14, 16, and X. It was observed only in seven of 24 cases, and the other 19 cases did not show LOH at any loci examined, including five cases of tumors with a high proportion of adenomatous hyperplasia. Among seven tumors with LOH at one or more loci, five tumors showed LOH at loci on the short arm of chromosome 17. Furthermore, mutations of the p53 gene, which is located on the short arm of chromosome 17, were detected in three of these 24 tumors by a polymerase chain reaction-single strand conformation polymorphism analysis and subsequent DNA sequencing. In two of these three tumors, p53 mutations were accompanied by the loss of wild-type p53 alleles. These results suggest that inactivation of the p53 gene is involved in the development of EC as in the case of several other types of human cancers.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 17*
  • Codon
  • Female
  • Genes, p53 / genetics*
  • Heterozygote
  • Humans
  • Mutation / genetics*
  • Polymerase Chain Reaction
  • Uterine Neoplasms / genetics*

Substances

  • Codon