Rapid diagnosis of germline p53 mutation using the enzyme mismatch cleavage method

Diagn Mol Pathol. 1996 Dec;5(4):265-70. doi: 10.1097/00019606-199612000-00007.


The p53 tumor suppressor gene is the most commonly altered gene in human cancers. Germline mutations in p53 are the genetic alteration underlying predisposition to multiple cancers in Li-Fraumeni syndrome and Li-Fraumeni-like syndrome. We describe a patient who presented with developed adrenocortical carcinoma at age 19 months and a cerebral primitive neuroectodermal tumor at age 5 years. The patient did not have a family history of cancer. We used the enzyme mismatch cleavage (EMC) method to screen for mutations in the p53 gene and found a germline mutation in exon 7 (codon 248). Loss of heterozygosity analysis in one tumor revealed loss of the wild-type p53 allele. In our report we demonstrate the EMC method to be a rapid and sensitive method for mutation detection.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenocortical Carcinoma / genetics*
  • Child, Preschool
  • DNA / analysis
  • DNA Mutational Analysis / methods*
  • Female
  • Gene Deletion
  • Genes, p53 / genetics*
  • Germ-Line Mutation*
  • Humans
  • Li-Fraumeni Syndrome / diagnosis
  • Li-Fraumeni Syndrome / genetics*
  • Neuroectodermal Tumors / genetics*
  • Point Mutation
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA


  • DNA