ReviewClinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico2020
Li-Fraumeni syndrome heterogeneity.
Review in Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- Genetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications.Archives of gynecology and obstetrics · 2026Review
- Clinical Heterogeneity of aCase reports in genetics · 2026Article
- Therapeutic Potential of Translational Readthrough at Disease-Associated Premature Termination Codons From Tumor Suppressor Genes.IUBMB life · 2025Review
- Assessing germline TP53 mutations in cancer patients: insights into Li-Fraumeni syndrome and genetic testing guidelines.Hereditary cancer in clinical practice · 2025Article
- Somatic mutational profiling and clinical impact of driver genes in Latin-Iberian medulloblastomas: Towards precision medicine.Neuropathology : official journal of the Japanese Society of Neuropathology · 2025Article
- Characterization of p53 p.T253I as a pathogenic mutation underlying Li-Fraumeni Syndrome.PloS one · 2025Article
- Clinical and genetic characteristics of carriers of the TP53 c.541C > T, p.Arg181Cys pathogenic variant causing hereditary cancer in patients of Arab-Muslim descent.Familial cancer · 2024Article
- Current insights and future directions of Li-Fraumeni syndrome.Discover oncology · 2024Review
- Orthopedic manifestations of Li-Fraumeni syndrome: Prevention and treatment of a polymorphic spectrum of malignancies.World journal of clinical cases · 2024Article
- Molecular Profile of Variants inJournal of personalized medicine · 2023Article
- Article
- Novel CandidateCancers · 2023Article
- Correlation of molecular alterations with pathological features in hepatocellular carcinoma: Literature review and experience of an Italian center.World journal of gastroenterology · 2022Review
- Hyperactivating p53 in Human Papillomavirus-Driven Cancers: A Potential Therapeutic Intervention.Molecular diagnosis & therapy · 2022Review
- Review
- The features of acute lymphocytic leukemia with intracranial germinoma in a patient with Li-Fraumeni syndrome: a case description.Quantitative imaging in medicine and surgery · 2022Article
- Review
- Whole exome sequencing identified a novelFrontiers in oncology · 2022Article
- GermlineClinical case reports · 2021Article
- Cancer incidence, patterns, and genotype-phenotype associations in individuals with pathogenic or likely pathogenic germline TP53 variants: an observational cohort study.The Lancet. Oncology · 2021Observational
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Clinical variability is commonly seen in Li-Fraumeni syndrome. Phenotypic heterogeneity is present among different families affected by the same pathogenic variant in TP53 gene and among members of the same family. However, causes of this huge clinical spectrum have not been studied in depth. TP53 type mutation, polymorphic variants in TP53 gene or in TP53-related genes, copy number variations in particular regions, and/or epigenetic deregulation of TP53 expression might be responsible for clinical heterogeneity. In this review, recent advances in the understanding of genetic and epigenetic aspects influencing Li-Fraumeni phenotype are discussed.
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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.