ArticleGenes & cancer2011
Li-fraumeni syndrome.
Article in Genes & cancer, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01443468 (Clinical, Epidemiologic, and Genetic Studies of Li-Fraumeni Syndrome), which is not on this map. Cited by 218 papers, 3 of them syntheses 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.
Clinical, Epidemiologic, and Genetic Studies of Li-Fraumeni Syndrome
Who cites it
218 citing papers in PubMed, 3 syntheses or guidelines pooled it, 469 citations in OpenAlex.
- Germline rare variants in HER2-positive breast cancer predisposition: a systematic review and meta-analysis.Frontiers in oncology · 2024Pooled it
- Statistical genomics in rare cancer.Seminars in cancer biology · 2020Pooled it
- Inverse relationship between Alzheimer's disease and cancer, and other factors contributing to Alzheimer's disease: a systematic review.BMC neurology · 2016Pooled it
- Non-invasive screening in hereditary cancer: a randomized controlled trial to test cell-free DNA-based early detection in the CHARM consortium.European journal of human genetics : EJHG · 2026Trial
- Trial
- Psychosocial morbidity in TP53 mutation carriers: is whole-body cancer screening beneficial?Familial cancer · 2017Trial
- Colorectal neoplasia detected during colonoscopic surveillance in Li-Fraumeni syndrome: a retrospective case series.Clinical journal of gastroenterology · 2026Article
- Clinicopathological and molecular features of uterine smooth muscle tumours in patients with Li-Fraumeni syndrome.Histopathology · 2026Article
- Tumor patterns and cancer risk in carriers of TP53 exonic germline variants that alter mRNA splicing.European journal of human genetics : EJHG · 2026Article
- The Thyroid Under Pressure: Heavy Metals, Endocrine Disruptors and Translational Insights into Carcinogenesis and Thyroid Dysfunctions.International journal of molecular sciences · 2026Review
- Impact of TP53 alterations on outcomes in pediatric and young adult patients with relapsed / refractory B-cell acute lymphoblastic leukemia after CD19-CAR T-Cell therapy.Bone marrow transplantation · 2026Article
- Distinct genomic and immunologic tumor evolution in germline TP53-driven breast cancers.Nature communications · 2026Article
- Should Sickle Cell Disease Be Considered a Cancer Predisposition Syndrome?Children (Basel, Switzerland) · 2026Review
- Review
- A novel 'Blended Pedagogy' for integrating bioinformatics into the undergraduate medical curriculum: a pilot study on feasibility and student engagement.BMC medical education · 2026Article
- p53: from understanding its structure to advances in therapeutic targeting.Signal transduction and targeted therapy · 2026Review
- Targeting mutant p53 in cancer: from mechanistic insights to therapeutic strategies.Cellular & molecular biology letters · 2026Review
- Metabolic permissiveness: how tissue context shapes cancer.Genes & development · 2026Review
- Unraveling syndrome-driven osteosarcoma: genetic insights and therapeutic frontiers.Orphanet journal of rare diseases · 2026Review
- Clinical Features and Treatment Strategies of Li-Fraumeni Syndrome Patients With Inherited TP53 Mutations.Molecular genetics & genomic medicine · 2026Article
158 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
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Li-Fraumeni syndrome (LFS) is a classic cancer predisposition disorder that is commonly associated with germline mutations of the p53 tumor suppressor gene. Examination of the wide spectrum of adult-onset and childhood cancers and the distribution of p53 mutations has led to a greater understanding of cancer genotype-phenotype correlations. However, the complex LFS phenotype is not readily explained by the simple identification of germline p53 mutations in affected individuals. Recent work has identified genetic events that modify the LFS phenotype. These include intragenic polymorphisms, mutations/polymorphisms of genes in the p53 regulatory pathway, as well as more global events such as aberrant copy number variation and telomere attrition. These genetic events may, in part, explain the breadth of tumor histiotypes within and across LFS families, the apparent accelerated age of onset within families, and the range of clinical outcomes among affected family members. This review will examine the clinical and genetic definitions of LFS and offer insight into how lessons learned from the study of this rare disorder may inform similar questions in other familial cancer syndromes.
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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.