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Erschienen in:

01.03.2010

Childhood predictive genetic testing for Li–Fraumeni syndrome

Erschienen in: Familial Cancer | Ausgabe 1/2010

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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.

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Titel: Childhood predictive genetic testing for Li–Fraumeni syndrome
Publikationsdatum: 01.03.2010
Erschienen in: Familial Cancer / Ausgabe 1/2010
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-009-9245-9

Springer Medizin

Childhood predictive genetic testing for Li–Fraumeni syndrome

Abstract

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Springer Medizin

Abstract

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