ArticleScientific reports2014
Heterogeneity of Li-Fraumeni syndrome links to unequal gain-of-function effects of p53 mutations.
Article in Scientific reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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Who cites it
51 citing papers in PubMed, 76 citations in OpenAlex.
- Elf3 drives β-catenin transactivation and associates with poor prognosis in colorectal cancer.Cell death & disease · 2014Trial
- A systematic analysis of the network of lncRNAs and mRNAs regulated by TP53 and TP53 mutants with hotspot mutations.Scientific reports · 2025Article
- Mutant p53 as a Therapeutic Target: The Report of Its Death Was an Exaggeration.International journal of molecular sciences · 2025Review
- Chromatin Immunoprecipitation Reveals p53 Binding to G-Quadruplex DNA Sequences in Myeloid Leukemia Cell Lines.ACS bio & med chem Au · 2025Article
- Oncogenic and teratogenic effects ofeLife · 2025Article
- Subclonal TP53 and KRAS variants combined with poor treatment response identify ultrahigh-risk pediatric patients with T-ALL.Blood advances · 2025Article
- Machine learning identifies clinical tumor mutation landscape pathways of resistance to checkpoint inhibitor therapy in NSCLC.Journal for immunotherapy of cancer · 2025Article
- Bioinformatic Identification of TP53 Gene Mutation Hotspots in Colorectal Cancer.International journal of molecular sciences · 2024Article
- Emerging insights into ethnic-specific TP53 germline variants.Journal of the National Cancer Institute · 2023Review
- Multidimensional quantitative phenotypic and molecular analysis reveals neomorphic behaviors of p53 missense mutants.NPJ breast cancer · 2023Article
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- Differential Gain-of-Function Activity of Three p53 Hotspot Mutants In Vivo.Cancer research · 2022Article
- Review
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- Ring finger 20/ring finger 40/WW domain-containing adaptor with coiled-coil complex interacts with p53 to regulate gene transcription in DNA damage response.Oncology letters · 2021Article
- The Role of p53 Signaling in Colorectal Cancer.Cancers · 2021Review
- Synchronous choroid plexus papilloma and Wilms tumor in a girl, disclosing a Li-Fraumeni syndrome.Hereditary cancer in clinical practice · 2021Article
- Radiation therapy and secondary malignancy in Li-Fraumeni syndrome: A hereditary cancer registry study.Cancer medicine · 2020Article
- Li-Fraumeni syndrome heterogeneity.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2020Review
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations of p53 cause not only loss of wild-type function but also gain of novel oncogenic functions (GOF). Accumulating evidence suggest that p53 hotspot mutations may confer different types and magnitudes of GOF. Here we add support to the heterogeneity of mutant p53 GOF by showing their unequal association with early tumor onset and spectrum of tumor types. We stratified Li-Fraumeni syndrome (LFS) patients according to carried p53 mutations using data from the updated p53 germline mutation database. When compared to loss-of-function nonsense mutations, the R282 GOF mutation associated with significantly earlier onset, while the G245 mutation displayed later onset. The R175, Y220, R248, R282 and nonsense mutations showed preferential distribution in certain cancer types, which varied in the age of onset. Multivariate COX regression model adjusting for cancer types and patient sex suggested that nonsense and G245 mutations had lower risk than R248 for early onset, suggesting unequal strengths of mutant GOF effects. Our results suggest that Li-Fraumeni syndrome can be subdivided into subtypes linking to unequal GOF effects of p53 mutations. These findings have potential implications in the prevention, early detection and targeted treatment of LFS tumors.
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