ArticleCancer genetics2012
Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium.
Article in Cancer genetics, 2012. 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 50 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
50 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Cancer Predisposition Genes in Adolescents and Young Adults (AYAs): a Review Paper from the Italian AYA Working Group.Current oncology reports · 2022Pooled it
- Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis.JAMA oncology · 2017Pooled it
- A systematic review of approaches for engaging patients for research on rare diseases.Journal of general internal medicine · 2014Pooled it
- Making Sense of Missense: Assessing and Incorporating the Functional Impact of Constitutional Genetic Testing.Children (Basel, Switzerland) · 2025Article
- 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
- 17.6% of patients in a German cohort with exocrine pancreatic cancer were diagnosed with a genetic tumor syndrome-a case for universal genetic testing?ESMO gastrointestinal oncology · 2025Article
- Bigpicc: a graph-based approach to identifying carcinogenic gene combinations from mutation data.BMC bioinformatics · 2025Article
- A collision tumor of basal cell carcinoma and atypical fibroxanthoma: A case report.Clinical case reports · 2024Article
- Molecular insights into TP53 mutation (p. Arg267Trp) and its connection to Choroid Plexus Carcinomas and Li-Fraumeni Syndrome.Genes & genomics · 2024Article
- Characterization of sarcoma topography in Li-Fraumeni syndrome.Frontiers in oncology · 2024Article
- 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
- First case of endometrial cancer after yolk sac tumor in a patient with Li-Fraumeni syndrome.BMC women's health · 2023Article
- Coincidence of primary adrenocortical carcinoma and melanoma: three CASE reports.BMC endocrine disorders · 2023Article
- Dual guide RNA-mediated concurrent C&G-to-T&A and A&T-to-G&C conversions using CRISPR base editors.Computational and structural biotechnology journal · 2023Article
- Unaffected Li-Fraumeni Syndrome Carrier Parent Demonstrates Allele-Specific mRNA Stabilization of Wild-TypeGenes · 2022Article
- Clonal Hematopoiesis and Mosaicism Revealed by a Multi-Tissue Analysis of Constitutional TP53 Status.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2022Article
- Evolution of germline TP53 variant classification in children with cancer.Cancer genetics · 2022Article
- Establishment and characterization of NCC-UPS4-C1: a novel cell line of undifferentiated pleomorphic sarcoma from a patient with Li-Fraumeni syndrome.Human cell · 2022Article
- Could the burden of pancreatic cancer originate in childhood?World journal of gastroenterology · 2021Review
- [Imaging of tumor predisposition syndromes].Der Radiologe · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
27 authors.
Funding
Abstract
Li-Fraumeni syndrome (LFS) is a rare dominantly inherited cancer predisposition syndrome that was first described in 1969. In most families, it is caused by germline mutations in the TP53 gene and is characterized by early onset of multiple specific cancers and very high lifetime cumulative cancer risk. Despite significant progress in understanding the molecular biology of TP53, the optimal clinical management of this syndrome is poorly defined. We convened a workshop on November 2, 2010, at the National Institutes of Health in Bethesda, Maryland, bringing together clinicians and scientists, as well as individuals from families with LFS, to review the state of the science, address clinical management issues, stimulate collaborative research, and engage the LFS family community. This workshop also led to the creation of the Li-Fraumeni Exploration (LiFE) Research Consortium.
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.