ReviewJournal of pediatric genetics2016
Li-Fraumeni Syndrome.
Review in Journal of pediatric genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 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
43 citing papers in PubMed, 1 synthesis or guideline pooled it, 84 citations in OpenAlex.
- Association of GSTM1, GSTT1, GSTM3, and GSTP1 Genes Polymorphisms with Susceptibility to Osteosarcoma: a Case- Control Study and Meta-AnalysisAsian Pacific journal of cancer prevention : APJCP · 2019Pooled it
- Decoding the Genetic Hallmarks of Breast Cancer: Molecular Signatures, Prognostic and Therapeutic Perspectives.Applied biochemistry and biotechnology · 2026Review
- The MDM2-p53 Axis in Osteosarcoma: Current Understanding of Regulatory Mechanisms and Targeted Therapeutic Strategies.Pharmaceuticals (Basel, Switzerland) · 2026Review
- Attenuated Li-Fraumeni syndrome with TP53 p.R181H in a Japanese patient with metastatic rectal adenocarcinoma: a case report.Familial cancer · 2026Article
- Characterization of p53 p.T253I as a pathogenic mutation underlying Li-Fraumeni Syndrome.PloS one · 2025Article
- Botryoid-type Embryonal Rhabdomyosarcoma: A Comprehensive Clinicopathologic and Molecular Appraisal With Cross-comparison to its Conventional-type Counterpart.The American journal of surgical pathology · 2024Article
- Current insights and future directions of Li-Fraumeni syndrome.Discover oncology · 2024Review
- Acyl-coenzyme a binding protein (ACBP) - a risk factor for cancer diagnosis and an inhibitor of immunosurveillance.Molecular cancer · 2024Article
- Major surgical conditions of childhood and their lifelong implications: comprehensive review.BJS open · 2024Review
- p53 biology and reactivation for improved therapy in MDS and AML.Biomarker research · 2024Review
- Whole-Body MRI Screening for Carriers of Germline TP53 Mutations-A Systematic Review and Meta-Analysis.Journal of clinical medicine · 2024Review
- Comprehensive genomic profiling for oncological advancements by precision medicine.Medical oncology (Northwood, London, England) · 2023Review
- Review
- Comprehensive analysis of cuproptosis-related lncRNAs signature to predict prognosis in bladder urothelial carcinoma.BMC urology · 2023Article
- Risk of malignancy in adrenal tumors in patients with a history of cancer.Frontiers in oncology · 2023Article
- Pancreatic Tumorigenesis: Precursors, Genetic Risk Factors and Screening.Current oncology (Toronto, Ont.) · 2022Review
- Family cancer history and smoking habit associated with sarcoma in a Japanese population study.Scientific reports · 2022Article
- A novel germline mutation of TP53 with breast cancer diagnosed as Li-Fraumeni syndrome.Surgical case reports · 2022Article
- Prenatal presentation of an adrenocortical tumor.Cancer reports (Hoboken, N.J.) · 2022Article
- Multi-Gene Mutation Profiling by Targeted Next-Generation Sequencing in Premenopausal Breast Cancer.Genes · 2022Article
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 cancer predisposition syndrome caused by a germline mutation of the TP53 gene on chromosome 17p13.1. It has an autosomal dominant pattern of inheritance with high penetrance. These patients have a very high lifetime cumulative risk of developing multiple malignancies and have a strong family history of early-onset malignancies. The protein p53, encoded by TP53, has a complex set of genome-preserving functions initiated during episodes of cellular stress and DNA damage. In LFS, TP53 gene mutations cause the loss of function of p53, leading to downstream events permissive for development of various malignancies throughout life. The LFS component tumors include soft tissue sarcomas, osteosarcoma, premenopausal breast cancer, brain tumors, and adrenal cortical carcinomas. Multiple types of sarcomas have been reported in association with LFS; this review article will focus on the most frequently encountered pediatric sarcomas associated with TP53 mutations.
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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.