title: 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.
abstract: 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.
authors.affiliation: CRC Department of Cancer Genetics, Christie Hospital, Manchester, U.K.
authors.forename: J M
authors.initials: JM
authors.lastname: Varley
authors.forename: M
authors.initials: M
authors.lastname: Thorncroft
authors.forename: G
authors.initials: G
authors.lastname: McGown
authors.forename: K
authors.initials: K
authors.lastname: Tricker
authors.forename: J M
authors.initials: JM
authors.lastname: Birch
authors.forename: D G
authors.initials: DG
authors.lastname: Evans
mesh_terms: D000328:Adult; D001483:Base Sequence; D002648:Child; D016889:Endometrial Neoplasms / Q000235:genetics; D005091:Exons / Q000235:genetics*; D005260:Female; D016158:Genes, p53; D006579:Heterozygote; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D011127:Polyps / Q000235:genetics; D017384:Sequence Deletion