Exclusion of a p53 germline mutation in a classic Li-Fraumeni syndrome family

Susan C. Evans, Betsy Minis, Kelly M. McMasters, Carolyn J. Foster, Mariza DeAndrade, Christopher I. Amos, Louise C. Strong, Guillermina Lozano

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


Li-Fraumeni syndrome (LFS) is characterized by a high risk of sarcomas, early onset of breast cancer, and a diversity of other cancers occurring as multiple primary tumors in multiple family members. In many families with LFS, germline mutations within the tumor-suppressor gene p53 have been identified. However, mutations in p53 have not been detected in approximately 30% of LFS families. To address the possibility either that p53 mutations were being missed or that another predisposing gene is altered in LFS, we used a variety of methods to accurately determine the p53 status in a large LFS kindred. A transcriptional activation assay on exons 4-10 of p53 excluded a mutation within the DNA-binding domain of p53. Single-stranded conformational-polymorphism analysis, using intronic primers and sequencing of all the coding exons and intron/exon junctions, also yielded no mutations. Finally, linkage analysis excluded potential mutations in the noncoding regions of p53. Our findings exclude the presence of a p53 germline mutation in a classic LFS family.

Original languageEnglish (US)
Pages (from-to)681-686
Number of pages6
JournalHuman genetics
Issue number6
StatePublished - 1998

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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