ArticleAmerican journal of human genetics1999
Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers, 1 of them a synthesis that pooled it.
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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.
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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
79 citing papers in PubMed, 1 synthesis or guideline pooled it, 262 citations in OpenAlex.
- A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Guideline
- Epidemiological risk factors and inferred p53 pathway dysregulation in Esophageal squamous cell carcinoma in the Somali population.Discover oncology · 2026Review
- Low-penetrance TP53 variants are mainly hypomorphic: an underestimated issue with high clinical significance.NPJ genomic medicine · 2026Article
- Pediatric Adrenocortical Carcinoma: The Nuts and Bolts of Diagnosis and Treatment and Avenues for Future Discovery.Cancer management and research · 2024Review
- Rare Tumors: Opportunities and challenges from the Children's Oncology Group perspective.EJC paediatric oncology · 2023Article
- Preclinical Models of Adrenocortical Cancer.Cancers · 2023Review
- Peripheral precocious puberty in Li-Fraumeni syndrome: a case report and literature review of pure androgen-secreting adrenocortical tumors.Journal of medical case reports · 2023Review
- Prenatal presentation of an adrenocortical tumor.Cancer reports (Hoboken, N.J.) · 2022Article
- Prediction of Adrenocortical Carcinoma Relapse and Prognosis with a Set of Novel Multigene Panels.Cancers · 2022Article
- Clinical and Functional Significance of TP53 Exon 4-Intron 4 Splice Junction Variants.Molecular cancer research : MCR · 2022Article
- Article
- Pediatric adrenocortical carcinoma.Frontiers in endocrinology · 2022Review
- Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1.International journal of clinical oncology · 2021Article
- Characteristics of Li-Fraumeni Syndrome in Japan; A Review Study by the Special Committee of JSHT.Cancer science · 2021Article
- Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil.PloS one · 2021Article
- GermlineCancers · 2020Review
- Review
- Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes.European journal of human genetics : EJHG · 2020Article
- Genetic predisposition in pediatric oncology.Medicine and pharmacy reports · 2020Review
- Review
19 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have analyzed a panel of 14 cases of childhood adrenocortical tumors unselected for family history and have identified germline TP53 mutations in >80%, making this the highest known incidence of a germline mutation in a tumor-suppressor gene in any cancer. The spectrum of germline TP53 mutations detected is remarkably limited. Analysis of tumor tissue for loss of constitutional heterozygosity, with respect to the germline mutant allele and the occurrence of other somatic TP53 mutations, indicates complex sequences of genetic events in a number of tumors. None of the families had cancer histories that conformed to the criteria for Li-Fraumeni syndrome, but, in some families, we were able to demonstrate that the mutation had been inherited. In these families there were gene carriers unaffected in their 40s and 50s, and there were others with relatively late-onset cancers. These data provide evidence that certain TP53 alleles confer relatively low penetrance for predisposition to the development of cancer, and they imply that deleterious TP53 mutations may be more frequent in the population than has been estimated previously. Our findings have considerable implications for the clinical management of children with andrenocortical tumors and their parents, in terms of both genetic testing and the early detection and treatment of tumors.
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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.