Childhood predictive genetic testing for Li-Fraumeni syndrome

D. G. Evans, P. Lunt, T. Clancy, R. Eeles

    Research output: Contribution to journalArticlepeer-review

    Abstract

    Presymptomatic genetic testing in childhood for adult onset conditions is generally discouraged as it does not directly benefit the child and removes their autonomy. In certain cancer prone conditions such as Familial Adenomatous Polyposis and Von Hippel Lindau disease there are risks of disease in childhood and benefit to children not inheriting a mutation in being able to forego unpleasant screening tests. Li-Fraumeni syndrome caused by constitutional TP53 mutations there are also implications in childhood with a risk of around 20% of a childhood malignancy. However, as yet no evidence based surveillance programme has been identified. We describe our experience of childhood testing for four children in two Li-Fraumeni families caused by TP53 mutations. © 2009 Springer Science+Business Media B.V.
    Original languageEnglish
    Pages (from-to)65-69
    Number of pages4
    JournalFamilial Cancer
    Volume9
    Issue number1
    DOIs
    Publication statusPublished - Mar 2010

    Keywords

    • Childhood
    • Genetic testing
    • Li-Fraumeni
    • Presymptomatic
    • TP53

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