title: A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier.
abstract: We report a Li-Fraumeni syndrome family in which we have detected a splice acceptor mutation in intron 3 of TP53. The mutation affects one of the invariant residues at the splice acceptor site, as a result of which two aberrant transcripts are produced. A child with Wilms' tumour aged 3 years in this family was shown not to be a mutation carrier.
authors.affiliation: CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK.
authors.forename: J M
authors.initials: JM
authors.lastname: Varley
authors.forename: G
authors.initials: G
authors.lastname: McGown
authors.forename: M
authors.initials: M
authors.lastname: Thorncroft
authors.forename: G R
authors.initials: GR
authors.lastname: White
authors.forename: K J
authors.initials: KJ
authors.lastname: Tricker
authors.forename: A M
authors.initials: AM
authors.lastname: Kelsey
authors.forename: J M
authors.initials: JM
authors.lastname: Birch
authors.forename: D G
authors.initials: DG
authors.lastname: Evans
mesh_terms: D002675:Child, Preschool; D005091:Exons; D005260:Female; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics*; D016864:Li-Fraumeni Syndrome / Q000235:genetics*; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*; D009396:Wilms Tumor / Q000235:genetics*
chemical_list: D016159:Tumor Suppressor Protein p53