title: Childhood predictive genetic testing for Li-Fraumeni syndrome.
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.
authors.affiliation: Medical Genetics Research Group and Regional Genetics Service, University of Manchester and Central Manchester Foundation Hospital NHS Trust, St Mary's Hospital, Manchester, M13 0JH, UK. Gareth.evans@cmft.nhs.uk
authors.forename: D G
authors.initials: DG
authors.lastname: Evans
authors.forename: P
authors.initials: P
authors.lastname: Lunt
authors.forename: T
authors.initials: T
authors.lastname: Clancy
authors.forename: R
authors.initials: R
authors.lastname: Eeles
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000306:Adrenal Cortex Neoplasms / Q000235:genetics*; D000328:Adult; D017668:Age of Onset; D001294:Attitude to Health; D002648:Child; D030541:Databases, Genetic; D005260:Female; D005544:Forecasting; D005817:Genetic Counseling / Q000941:ethics; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics*; D019656:Loss of Heterozygosity; D008969:Molecular Sequence Data; D051718:MutS Homolog 2 Protein / Q000235:genetics; D009154:Mutation; D009363:Neoplasm Proteins; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011494:Protein Kinases; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*; D006623:von Hippel-Lindau Disease / Q000209:etiology / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D009363:Neoplasm Proteins; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53; D011494:Protein Kinases; D051718:MutS Homolog 2 Protein