ReviewHuman mutation2014
Germline TP53 mutations and the changing landscape of Li-Fraumeni syndrome.
Review in Human mutation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
82 citing papers in PubMed, 1 synthesis or guideline pooled it, 143 citations in OpenAlex.
- Association between TP53 rs1042522 gene polymorphism and the risk of malignant bone tumors: a meta-analysis.Bioscience reports · 2019Pooled it
- Lung Adenocarcinoma as Part of the Li-Fraumeni Syndrome Spectrum: Preliminary Data of the LIFSCREEN Randomized Clinical Trial.JAMA oncology · 2017Trial
- Psychosocial morbidity in TP53 mutation carriers: is whole-body cancer screening beneficial?Familial cancer · 2017Trial
- A Personalized Therapeutic Approach for Liver Cancers Expressing the African-Centric P47S Variant of TP53.Molecular cancer research : MCR · 2026Article
- Optimizing whole-body MRI for early cancer detection in Li-Fraumeni syndrome: a prospective bicentric study.European radiology · 2026Article
- Prospective Study of Annual Whole-Body Magnetic Resonance Imaging as Part of a Multimodality Screening Program for Individuals With Li-Fraumeni Syndrome.JCO precision oncology · 2025Article
- Germline Pathogenic/Likely Pathogenic Mutations and Subsequent Neoplasms Among Childhood Cancer Survivors: A Report From the Children's Oncology Group ALTE03N1 Study.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2025Article
- Transmission ratio distortion of germline TP53 variants in Li-Fraumeni syndrome families.Cancer · 2025Article
- Cell-free DNA from germline TP53 mutation carriers reflect cancer-like fragmentation patterns.Nature communications · 2024Article
- Newborn Screening for Li-Fraumeni Syndrome: Patient Perspectives.Research square · 2024Article
- Early Cancer Detection in Li-Fraumeni Syndrome with Cell-Free DNA.Cancer discovery · 2024Article
- Li-Fraumeni Syndrome With Six Primary Tumors-Case Report.Case reports in oncological medicine · 2024Article
- New Germline TP53 Variant Detected After Radiotherapy-Induced Angiosarcoma of the Chest Wall in a Previously Treated Breast Cancer Patient: A Case Report and Review of Li-Fraumeni Syndrome and Radiotherapy-Induced Sarcoma.Case reports in oncological medicine · 2024Article
- Osteosarcoma patient with Li-Fraumeni syndrome: the first case report in Vietnam.Frontiers in oncology · 2024Article
- Current and new frontiers in hereditary cancer surveillance: Opportunities for liquid biopsy.American journal of human genetics · 2023Review
- Case 10: A 30-Year-Old Woman With Breast Mass and Family History of Cancer.Journal of Korean medical science · 2023Article
- Article
- Unaffected Li-Fraumeni Syndrome Carrier Parent Demonstrates Allele-Specific mRNA Stabilization of Wild-TypeGenes · 2022Article
- Discovery and functional characterization of the oncogenicity and targetability of a novelCold Spring Harbor molecular case studies · 2022Article
- Li-Fraumeni Syndrome: Mutation ofCancers · 2022Review
22 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
3 authors at 2 institutions in 1 country.
Funding
Abstract
Since its description by Li and Fraumeni over 40 years ago, Li-Fraumeni syndrome (LFS) remains one of the most striking familial cancer predisposition syndromes. Children and adults are affected by a wide array of cancers that occur predominantly at younger ages. This review discusses LFS, describes its association with TP53, and examines the classic and evolving definitions of the syndrome. The potential implications of multigene assessments of individuals at increased cancer risk, which have already begun to identify those with very little personal or family cancer history carrying germline TP53 mutations, are considered. Newer options in the management of individuals with LFS are also discussed, highlighting the importance of further clinical trials for cancer detection, prevention, and management. Finally, we observe how the clinical criteria for TP53 mutation screening appear to be evolving as our understanding of the impact of germline TP53 mutations continues to expand.
Indexed as
Identifiers
What 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.