ArticleHuman mutation2021
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Article in Human mutation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 123 papers, 2 of them syntheses that pooled it.
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Who cites it
123 citing papers in PubMed, 2 syntheses or guidelines pooled it, 162 citations in OpenAlex.
- SEOM clinical guideline on heritable TP53-related cancer syndrome (2022).Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2023Guideline
- Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).Genetics in medicine : official journal of the American College of Medical Genetics · 2022Guideline
- Frequency and Clinical Significance of Clonal and Subclonal Driver Mutations in High-Risk Neuroblastoma at Diagnosis: A Children's Oncology Group Study.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2025Trial
- Impact of mainstream genetic testing for breast cancer patients: five-year data from the Parkville Familial Cancer Centre.Familial cancer · 2026Article
- Methodological considerations on TP53 variant classification for standardized reporting and interpretation.Leukemia · 2026Article
- Diagnostic yield of cancer predisposition in a nationwide prospective childhood acute leukemia cohort.Nature communications · 2026Article
- Interdisciplinary management and genetic evaluation of pediatric cancer predisposition syndromes: a retrospective cohort study.European journal of human genetics : EJHG · 2026Article
- Variation at the R181 Residue of p53 Confers Loss of p53 DNA Binding Cooperativity with the Retention of Mitochondria-Associated Apoptosis.Molecular cancer research : MCR · 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
- Tumor patterns and cancer risk in carriers of TP53 exonic germline variants that alter mRNA splicing.European journal of human genetics : EJHG · 2026Article
- Clinical and surveillance outcomes of the TP53 c.1000G > C (p.Gly334Arg) variant.Familial cancer · 2026Article
- Combining multiplexed functional data to improve variant classification.Genome medicine · 2026Article
- Independent somatic TP53 mutations in blood and tumor mimicking Li-Fraumeni syndrome in a 94-year-old man.NPJ precision oncology · 2026Article
- Genotypic and phenotypic characteristics of germline TP53 variant carriers: experience from two cancer genetic counseling units.Familial cancer · 2026Article
- Distinct genomic and immunologic tumor evolution in germline TP53-driven breast cancers.Nature communications · 2026Article
- Gene- and domain-aware calibration increases the clinical utility of variant effect predictors.Research square · 2026Article
- Leveraging paired germline and somatic analysis to improve the classification of DDX41 variants.British journal of haematology · 2026Article
- The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation.Genome medicine · 2026Article
- Genotype-Phenotype Correlations of Li-Fraumeni Syndrome in Japan Children's Cancer Group LFS20 Study Cohort.Cancer science · 2026Article
- Observational
63 more citing papers are in PubMed but not listed here.
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Authors and funding
24 authors at 15 institutions in 4 countries.
Funding
Abstract
Germline pathogenic variants in TP53 are associated with Li-Fraumeni syndrome, a cancer predisposition disorder inherited in an autosomal dominant pattern associated with a high risk of malignancy, including early-onset breast cancers, sarcomas, adrenocortical carcinomas, and brain tumors. Intense cancer surveillance for individuals with TP53 germline pathogenic variants is associated with reduced cancer-related mortality. Accurate and consistent classification of germline variants across clinical and research laboratories is important to ensure appropriate cancer surveillance recommendations. Here, we describe the work performed by the Clinical Genome Resource TP53 Variant Curation Expert Panel (ClinGen TP53 VCEP) focused on specifying the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) guidelines for germline variant classification to the TP53 gene. Specifications were developed for 20 ACMG/AMP criteria, while nine were deemed not applicable. The original strength level for the 10 criteria was also adjusted due to current evidence. Use of TP53-specific guidelines and sharing of clinical data among experts and clinical laboratories led to a decrease in variants of uncertain significance from 28% to 12% compared with the original guidelines. The ClinGen TP53 VCEP recommends the use of these TP53-specific ACMG/AMP guidelines as the standard strategy for TP53 germline variant classification.
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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.