ArticleAmerican journal of human genetics1995
Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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Who cites it
55 citing papers in PubMed, 205 citations in OpenAlex.
- Article
- Clinical Features and Treatment Strategies of Li-Fraumeni Syndrome Patients With Inherited TP53 Mutations.Molecular genetics & genomic medicine · 2026Article
- Functional characterization of splice variants in hereditary breast and ovarian cancer susceptibility genes.Familial cancer · 2025Article
- Dominant-Negative Effects of p53 R337 Variants in Li-Fraumeni Syndrome: Impact on Tetramer Formation and Transcriptional Activity.Chembiochem : a European journal of chemical biology · 2025Article
- Early-onset Colorectal Cancer in a Patient with Li-Fraumeni Syndrome: A Case Series and Literature Review.Internal medicine (Tokyo, Japan) · 2025Review
- Subclonal TP53 and KRAS variants combined with poor treatment response identify ultrahigh-risk pediatric patients with T-ALL.Blood advances · 2025Article
- Diet and Nutrients in Rare Neurological Disorders: Biological, Biochemical, and Pathophysiological Evidence.Nutrients · 2024Review
- Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer.Journal of medical genetics · 2023Article
- Alternative RNA splicing defects in pediatric cancers: new insights in tumorigenesis and potential therapeutic vulnerabilities.Annals of oncology : official journal of the European Society for Medical Oncology · 2022Review
- DNA damage response proteins in canine cancer as potential research targets in comparative oncology.Veterinary and comparative oncology · 2022Review
- A whole-exome case-control association study to characterize the contribution of rare coding variation to pancreatic cancer risk.HGG advances · 2022Article
- Article
- Molecular profile of tongue cancer in an 18-year-old female patient with no recognizable risk factor.Laryngoscope investigative otolaryngology · 2019Article
- Fn14 overcomes cisplatin resistance of high-grade serous ovarian cancer by promoting Mdm2-mediated p53-R248Q ubiquitination and degradation.Journal of experimental & clinical cancer research : CR · 2019Article
- Clinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours.NPJ genomic medicine · 2018Article
- Li-Fraumeni Syndrome Disease Model: A Platform to Develop Precision Cancer Therapy Targeting Oncogenic p53.Trends in pharmacological sciences · 2017Review
- Recent omics technologies and their emerging applications for personalised medicine.IET systems biology · 2017Review
- Thyroid, Renal, and Breast Carcinomas, Chondrosarcoma, Colon Adenomas, and Ganglioneuroma: A New Cancer Syndrome, FAP, or Just Coincidence.Case reports in medicine · 2016Article
- Mutational Status of CDKN2A and TP53 Genes in Laryngeal Squamous Cell Carcinoma.Pathology oncology research : POR · 2015Article
- The roles of post-translational modifications in the context of protein interaction networks.PLoS computational biology · 2015Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germ-line mutations of the tumor-suppressor gene p53 have been observed in some families with the Li-Fraumeni syndrome (LFS), a familial cancer syndrome in which affected relatives develop a diverse set of early-onset malignancies including breast carcinoma, sarcomas, and brain tumors. The analysis of the p53 gene in LFS families has been limited, in most studies to date, to the region between exon 5 and exon 9. In order to determine the frequency and distribution of germ-line p53 mutations in LFS, we sequenced the 10 coding exons of the p53 gene in lymphocytes and fibroblast cell lines derived from 15 families with the syndrome. Germ-line mutations were observed in eight families. Six mutations were missense mutations located between exons 5 and 8. One mutation was a nonsense mutation in exon 6, and one mutation was a splicing mutation in intron 4, generating aberrant shorter p53 RNA(s). In three families, a mutation of the p53 gene was observed in the fibroblast cell line derived from the proband. However, the mutation was not found in affected relatives in two families and in the blood from the one individual, indicating that the mutation probably occurred during cell culture in vitro. In four families, no mutation was observed. This study indicates that germ-line p53 mutations in LFS are mostly located between exons 5 and 8 and that approximately 50% of patients with LFS have no germ-line mutations in the coding region of the p53 gene.(ABSTRACT TRUNCATED AT 250 WORDS)
Indexed as
Identifiers
7887414PMC1801151W1524774823What OpenQuestion holds
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.