A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: A patient with Wilms' tumour is not a mutation carrier

Gareth Evans, J. M. Varley, G. McGown, M. Thorncroft, G. R M White, K. J. Tricker, A. M. Kelsey, J. M. Birch, D. G R Evans

    Research output: Contribution to journalArticlepeer-review

    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.
    Original languageEnglish
    Pages (from-to)1081-1083
    Number of pages2
    JournalBritish Journal of Cancer
    Volume78
    Issue number8
    Publication statusPublished - 1998

    Keywords

    • Li-Fraumeni syndrome
    • Splicing
    • TP53
    • Wilms' tumour

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