A novel deletion within exon 6 of TP53 in a family with Li-Fraumeni-like syndrome, and LOH in a benign lesion from a mutation carrier

Cancer Genet Cytogenet. 1996 Aug;90(1):14-6. doi: 10.1016/0165-4608(96)00059-3.


We report here a family with some of the characteristics of Li-Fraumeni syndrome (Li-Fraumeni-like) in which there is a 2 base pair deletion within exon 6 of TP53 in two affected individuals. Of particular interest in this family is a study of loss of heterozygosity (LOH) of the TP53 gene, and the finding that there is LOH in all cancers available for study from mutation carriers, and additionally from a benign endometrial polyp from one of those patients. Two other family members, one with a rectal carcinoma aged 55, the other with two separate benign lesions under the age of 45, were both wild-type for the TP53 mutation.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Base Sequence
  • Child
  • Endometrial Neoplasms / genetics
  • Exons / genetics*
  • Female
  • Genes, p53
  • Heterozygote
  • Humans
  • Li-Fraumeni Syndrome / genetics*
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Pedigree
  • Polyps / genetics
  • Sequence Deletion*