ArticleEuropean journal of human genetics : EJHG2020
Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes.
Article in European journal of human genetics : EJHG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 185 papers, 6 of them syntheses that pooled it.
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185 citing papers in PubMed, 6 syntheses or guidelines pooled it, 312 citations in OpenAlex.
- Somatic and germline genetic testing pathways in haematological malignancies: Best practice consensus guidelines from the 2025 national meeting organised by UK Cancer Genetics Group (UKCGG), CanGene-CanVar and the NHS England Haematological Oncology Working Group.British journal of haematology · 2026Guideline
- [Hereditary genetic testing and its application in the diagnosis, treatment, and prevention of breast cancer].Magyar onkologia · 2025Guideline
- UK guidelines for the management of soft tissue sarcomas.British journal of cancer · 2025Guideline
- Nitrogen single and multiple breath washout test and lung imaging to detect treatment-related pulmonary toxicity in paediatric cancer patients and survivors: a systematic review.European respiratory review : an official journal of the European Respiratory Society · 2025Pooled it
- ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management.European journal of human genetics : EJHG · 2024Guideline
- Cancer Predisposition Genes in Adolescents and Young Adults (AYAs): a Review Paper from the Italian AYA Working Group.Current oncology reports · 2022Pooled it
- Risk of subsequent primary melanoma in 68 002 five-year survivors of childhood and adolescent cancer in Europe: the PanCareSurFup cohort study.Journal of the National Cancer Institute · 2026Article
- Results of a multigene panel testing approach targeting patients with suspected genetic predisposition to pancreatic ductal adenocarcinoma.European journal of human genetics : EJHG · 2026Article
- Bibliometric Analysis of Whole-Body MRI from 2015 to 2025 Across Clinical Applications, Quantitative Imaging, and Artificial Intelligence.Journal of imaging · 2026Article
- Review
- Inherited cancer syndromes in adult oncology: a referral guide based on malignant tumor and polyp features.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Review
- Tumor patterns and cancer risk in carriers of TP53 exonic germline variants that alter mRNA splicing.European journal of human genetics : EJHG · 2026Article
- U-Swing: An Adaptive U-Net and Swin Fusion for WB-MRI Whole Spine Bone Marrow Segmentation.Journal of imaging informatics in medicine · 2026Article
- Clinical and surveillance outcomes of the TP53 c.1000G > C (p.Gly334Arg) variant.Familial cancer · 2026Article
- Molecular characteristics of isocitrate dehydrogenase 1 R132C-mutant diffuse gliomas: association with TP53 alterations and Li-Fraumeni syndrome.Acta neuropathologica communications · 2026Article
- Unsupervised Deep Representation Learning and Probabilistic Clustering for the Systems-Level Discovery of Germline Mutation Signatures in Pediatric Cancers.Biomedicines · 2026Article
- Women's health across the reproductive lifespan in women with germline TP53 pathogenic variants: a clinical perspective.The oncologist · 2026Review
- Are current Polish guidelines for prophylactic mastectomy sufficient?Hereditary cancer in clinical practice · 2026Review
- Association of gestational choriocarcinoma in a mother and Li-Fraumeni syndrome in her child: The result of a single event?Familial cancer · 2026Article
- Genotypic and phenotypic characteristics of germline TP53 variant carriers: experience from two cancer genetic counseling units.Familial cancer · 2026Article
125 more citing papers are in PubMed but not listed here.
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6 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fifty years after the recognition of the Li-Fraumeni syndrome (LFS), our perception of cancers related to germline alterations of TP53 has drastically changed: (i) germline TP53 alterations are often identified among children with cancers, in particular soft-tissue sarcomas, adrenocortical carcinomas, central nervous system tumours, or among adult females with early breast cancers, without familial history. This justifies the expansion of the LFS concept to a wider cancer predisposition syndrome designated heritable TP53-related cancer (hTP53rc) syndrome; (ii) the interpretation of germline TP53 variants remains challenging and should integrate epidemiological, phenotypical, bioinformatics prediction, and functional data; (iii) the penetrance of germline disease-causing TP53 variants is variable, depending both on the type of variant (dominant-negative variants being associated with a higher cancer risk) and on modifying factors; (iv) whole-body MRI (WBMRI) allows early detection of tumours in variant carriers and (v) in cancer patients with germline disease-causing TP53 variants, radiotherapy, and conventional genotoxic chemotherapy contribute to the development of subsequent primary tumours. It is critical to perform TP53 testing before the initiation of treatment in order to avoid in carriers, if possible, radiotherapy and genotoxic chemotherapies. In children, the recommendations are to perform clinical examination and abdominal ultrasound every 6 months, annual WBMRI and brain MRI from the first year of life, if the TP53 variant is known to be associated with childhood cancers. In adults, the surveillance should include every year clinical examination, WBMRI, breast MRI in females from 20 until 65 years and brain MRI until 50 years.
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