Screening for germline p53 mutations in pediatric and adult patients of high-risk groups in Poland

Arch Immunol Ther Exp (Warsz). 2000;48(4):309-15.

Abstract

Germline mutations of the p53 gene lead to cell transformation in various tissues. Such a complex cancer phenotype makes it difficult to recognize the carriers of the defective allele. Several studies undertaken to identify high-risk groups found germline p53 mutations in familial cancer aggregations and in patients with multiple tumors. We screened 189 pediatric and 48 adult patients. The high-risk groups comprised 41 patients with a family history of cancer and 35 with multiple neoplasms. Furthermore, 124 tumors were screened for somatic mutations. p53 exons 2 to 11 were analyzed by polymerase chain reaction and single strand conformation polymorphism (PCR-SSCP) followed by direct sequencing of abnormal DNA fragments. No germline p53 mutations were found and somatic mutations were detected in 5 of 59 sarcomas, globally, in 8 of 124 tumors. In conclusion, in Poland, p53 alterations do not seem very important for the predisposition to malignancy and development of sarcomas.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • Genes, p53*
  • Genetic Testing*
  • Germ-Line Mutation*
  • Humans
  • Li-Fraumeni Syndrome / genetics
  • Neoplasm Metastasis / genetics
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Risk Factors
  • Sarcoma / genetics