ArticleFamilial cancer2010
Childhood predictive genetic testing for Li-Fraumeni syndrome.
Article in Familial cancer, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
10 citing papers in PubMed, 30 citations in OpenAlex.
- Psychosocial morbidity in TP53 mutation carriers: is whole-body cancer screening beneficial?Familial cancer · 2017Trial
- Support for Disclosure of Hereditary Tumor Risk to Children and Adolescents: A Scoping Review.Japan journal of nursing science : JJNS · 2026Article
- Easing the Burden: Describing the Role of Social, Emotional and Spiritual Support in Research Families with Li-Fraumeni Syndrome.Journal of genetic counseling · 2016Article
- Further evidence for pathogenicity of the TP53 tetramerization domain mutation p.Arg342Pro in Li-Fraumeni syndrome.Familial cancer · 2015Article
- Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome.Journal of genetic counseling · 2014Article
- Ethical issues in presymptomatic genetic testing for minors: a dilemma in Li-Fraumeni syndrome.Journal of genetic counseling · 2013Article
- Tumor protein p53 (TP53) testing and Li-Fraumeni syndrome : current status of clinical applications and future directions.Molecular diagnosis & therapy · 2013Review
- High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort.PloS one · 2013Article
- Li-fraumeni syndrome.Genes & cancer · 2011Article
- Educational paper: screening in cancer predisposition syndromes: guidelines for the general pediatrician.European journal of pediatrics · 2011Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.