ArticleJournal of hematology & oncology2022
Genotype-phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry.
Article in Journal of hematology & oncology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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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
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Who cites it
21 citing papers in PubMed, 28 citations in OpenAlex.
- A Retrospective Study of Ultrasonographic Features of Hepatic Metastases Following Adrenal Cortical Carcinoma Resection.Journal of clinical medicine · 2026Article
- Tumor patterns and cancer risk in carriers of TP53 exonic germline variants that alter mRNA splicing.European journal of human genetics : EJHG · 2026Article
- Oncocytic Adrenocortical Carcinoma with Somatic Pathogenic Variants ofDiagnostics (Basel, Switzerland) · 2026Article
- Optimizing whole-body MRI for early cancer detection in Li-Fraumeni syndrome: a prospective bicentric study.European radiology · 2026Article
- Genotype-Phenotype Correlations of Li-Fraumeni Syndrome in Japan Children's Cancer Group LFS20 Study Cohort.Cancer science · 2026Article
- Urgent need to recognize that Disease-Causing TP53 variants with atypical penetrance require distinct clinical recommendations.Journal of the National Cancer Institute · 2026Article
- App supporting surveillance for (likely) pathogenic TP53 variant carriers: acceptance among a German cohort.Archives of gynecology and obstetrics · 2026Article
- TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup.Nature communications · 2025Article
- Model of care for individuals with rare cancer predisposition syndromes in Germany.The Lancet regional health. Europe · 2025Review
- In-frame germline TP53 variant impairs p53 oligomerization and predisposes to cancer.Scientific reports · 2025Article
- Germline TP53 p.R337H and XAF1 p.E134* Variants: Prevalence in Paraguay and Comparison with Rates in Brazilian State of Paraná and Previous Findings at the Paraguayan-Brazilian Border.Current oncology (Toronto, Ont.) · 2025Article
- Re-envisioning genetic predisposition to childhood and adolescent cancers.Nature reviews. Cancer · 2025Review
- Case review of perivascular epithelioid cell tumor occurring in patients with Li-Fraumeni syndrome.Familial cancer · 2025Review
- Cancer risk in carriers of TP53 germline variants grouped into different functional categories.JNCI cancer spectrum · 2025Article
- A brief feasibility report on an online psychosocial support intervention for adults with Li-Fraumeni syndrome.Frontiers in psychology · 2025Article
- Clustering ofiScience · 2024Article
- Current insights and future directions of Li-Fraumeni syndrome.Discover oncology · 2024Review
- Cell-free DNA from germline TP53 mutation carriers reflect cancer-like fragmentation patterns.Nature communications · 2024Article
- TP53-associated early breast cancer: new observations from a large cohort.Journal of the National Cancer Institute · 2024Article
- Research on Rare Diseases in Germany - The cancer predisposition syndrome registry.Journal of health monitoring · 2023Article
Corrections and comments
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Authors and funding
29 authors at 18 institutions in 6 countries.
Funding
Abstract
Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by pathogenic TP53 variants. The condition represents one of the most relevant genetic causes of cancer in children and adults due to its frequency and high cancer risk. The term Li-Fraumeni spectrum reflects the evolving phenotypic variability of the condition. Within this spectrum, patients who meet specific LFS criteria are diagnosed with LFS, while patients who do not meet these criteria are diagnosed with attenuated LFS. To explore genotype-phenotype correlations we analyzed 141 individuals from 94 families with pathogenic TP53 variants registered in the German Cancer Predisposition Syndrome Registry. Twenty-one (22%) families had attenuated LFS and 73 (78%) families met the criteria of LFS. NULL variants occurred in 32 (44%) families with LFS and in two (9.5%) families with attenuated LFS (P value < 0.01). Kato partially functional variants were present in 10 out of 53 (19%) families without childhood cancer except adrenocortical carcinoma (ACC) versus 0 out of 41 families with childhood cancer other than ACC alone (P value < 0.01). Our study suggests genotype-phenotype correlations encouraging further analyses.
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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.