Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23

Linda L. Bachinski, Shodimu Emmanuel Olufemi, Xiaojun Zhou, Chih Chieh Wu, Linwah Yip, Sanjay Shete, Guillermina Lozano, Christopher I. Amos, Louise C. Strong, Ralf Krahe

Research output: Contribution to journalArticlepeer-review

54 Citations (Scopus)


Li-Fraumeni syndrome (LFS) is a clinically and genetically heterogeneous inherited cancer syndrome. Most cases (∼70%) identified and characterized to date are associated with dominantly inherited germ line mutations in the tumor suppressor gene TP53 (p53) in chromosome 17p13.1. In a subset of non-p53 patients with LFS, CHEK2 in chromosome 22q11 has been identified as another predisposing locus. Studying a series of non-p53 LFS kindred, we have shown that there is additional genetic heterogeneity in LFS kindred with inherited predisposition at loci other than p53 or CHEK2. Using a genome-wide scan for linkage with complementing parametric and nonparametric analysis methods, we identified linkage to a region of approximately 4 cM in chromosome 1q23, a genomic region not previously implicated in this disease. Identification of a third predisposing gene and its underlying mutation(s) should provide insight into other genetic events that predispose to the genesis of the diverse tumor types associated with LFS and its variants.

Original languageEnglish
Pages (from-to)427-431
Number of pages5
JournalCancer Research
Issue number2
Publication statusPublished - 2005 Jan 15

All Science Journal Classification (ASJC) codes

  • Oncology
  • Cancer Research


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