The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds

Rina Siddiqui, Kenan Onel, Flavia Facio, Kedoudja Nafa, Louis Robles Diaz, Noah Kauff, Helen Huang, Mark Robson, Nathan Ellis, Kenneth Offit

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


Li-Fraumeni syndrome (LFS) is a dominantly inherited cancer predisposition syndrome characterized by a wide spectrum of neoplasms occurring at young age. Germline mutations in the TP53 tumor suppressor gene have been identified in approximately 71 of LFS patients and 22 of Li-Fraumeni-like (LFL) patients. Mutations within the cell cycle checkpoint gene CHEK2 have also been reported in some patients with LFS, LFL, and phenotypically suggestive of LFS (PS-LFS) not carrying a TP53 mutation. In this study, we show that 7 of the 23 patients with LFS/LFL tested positive for deleterious mutations in p53. Fifteen of the remaining sixteen were not found to carry the CHEK2*1100delCmutation. These results indicate that CHEK2*1100delC is not a common cause of LFS, LFL, or PS-LFS in North American kindreds not carrying a TP53 mutation. Of note, two patients were found to carry p53*R72P, which is of unknown clinical significance. Lack of segregation of this allele in one of these kindreds provides strong evidence that the R72P allele is not disease-causing. While mutations in p53 account for a proportion of patients with LFS/LFL, future studies are needed to determine if other genes are responsible for LFS/LFL families not carrying germline p53 mutations.

Original languageEnglish (US)
Pages (from-to)177-181
Number of pages5
JournalFamilial Cancer
Issue number2
StatePublished - Jun 2005


  • 1100delC
  • CHEK2
  • Germline mutations
  • Li-Fraumeni syndrome
  • Polymorphism
  • TP53

ASJC Scopus subject areas

  • Genetics
  • Oncology
  • Genetics(clinical)
  • Cancer Research


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