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References from Interpreting TP53 pathogenic variants in germline testing and cancer genomics: pathogenicity, origin, and clinical actionability. Local targets link to admitted publications; unresolved targets remain external evidence.
Unresolved reference
External reference
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study
10.1016/s1470-2045(11)70119-x · 2011 · External reference
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study
10.1016/s1470-2045(16)30249-2 · 2016 · External reference
Cancer screening recommendations for individuals with Li-Fraumeni syndrome
10.1158/1078-0432.ccr-17-0408 · 2017 · External reference
Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes
10.1038/s41431-020-0638-4 · 2020 · External reference
Update on cancer screening recommendations for individuals with Li-Fraumeni syndrome
10.1158/1078-0432.ccr-24-3301 · 2025 · External reference
Somatic TP53 variants frequently confound germ-line testing results
10.1038/gim.2017.196 · 2018 · External reference
Li-Fraumeni syndrome: not a straightforward diagnosis anymore—the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis
10.1186/s13058-019-1193-1 · 2019 · External reference
Apparently heterozygous TP53 pathogenic variants may be blood limited in patients undergoing hereditary cancer panel testing
10.1016/j.jmoldx.2019.12.003 · 2020 · External reference
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
10.1038/gim.2015.30 · 2015 · External reference
A quantitative, Bayesian-informed approach to gene-specific variant classification: updated expert panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome
10.1186/s13073-025-01536-3 · 2025 · External reference
ClinVar: improving access to variant interpretations and supporting evidence
10.1093/nar/gkx1153 · 2018 · External reference
Unresolved reference
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Detection and quantification of mosaic mutations in disease genes by next-generation sequencing
10.1016/j.jmoldx.2016.01.002 · 2016 · External reference
The somatic mosaicism across human tissues network
10.1038/s41586-025-09096-7 · 2025 · External reference
A genomic view of mosaicism and human disease
10.1038/nrg3424 · 2013 · External reference
Somatic mosaicism in the human genome
10.3390/genes5041064 · 2014 · External reference
Unrevealed mosaicism in the next-generation sequencing era
10.1007/s00438-015-1130-7 · 2016 · External reference
Genetic mosaicism in the human brain: from lineage tracing to neuropsychiatric disorders
10.1038/s41583-022-00572-x · 2022 · External reference
Unresolved reference
External reference
Unresolved reference
External reference
Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes
10.1182/blood-2015-03-631747 · 2015 · External reference
Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence
10.1056/nejmoa1409405 · 2014 · External reference
Age-related clonal hematopoiesis associated with adverse outcomes
10.1056/nejmoa1408617 · 2014 · External reference
Clonal hematopoiesis: mutation-specific adaptation to environmental change
10.1016/j.stem.2022.05.006 · 2022 · External reference
Identification of clonal Hematopoiesis mutations in solid tumor patients undergoing unpaired next-generation sequencing assays
10.1158/1078-0432.ccr-18-1201 · 2018 · External reference
Managing clonal Hematopoiesis in patients with solid Tumors
10.1200/jco.18.00331 · 2019 · External reference
Detection of somatic variants in peripheral blood lymphocytes using a next generation sequencing multigene pan cancer panel
10.1016/j.cancergen.2017.01.002 · 2017 · External reference
A substantial proportion of apparently heterozygous TP53 pathogenic variants detected with a next-generation sequencing hereditary pan-cancer panel are acquired somatically
10.1002/humu.23910 · 2020 · External reference
Prevalence and characteristics of likely-somatic variants in cancer susceptibility genes among individuals who had hereditary pan-cancer panel testing
10.1016/j.cancergen.2019.04.005 · 2019 · External reference
Challenges in interpreting TP53 pathogenic variants with a low minor allele frequency in germline genetic testing: a case report of a patient with mosaic Li-Fraumeni syndrome
10.1200/po.19.00279 · 2020 · External reference
Clonal hematopoiesis and mosaicism revealed by a multi-tissue analysis of constitutional TP53 status
10.1158/1055-9965.epi-21-1296 · 2022 · External reference
Fibroblast testing can inform medical management in individuals with mosaic variants detected on hereditary cancer panels
10.1016/j.cancergen.2022.07.004 · 2022 · External reference
Low allele frequency variants identified on germline multi-gene panel testing for cancer predisposition can suggest the presence of constitutional mosaicism
10.1158/1078-0432.ccr-24-4105 · 2025 · External reference
TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate
10.1186/s13073-025-01429-5 · 2025 · External reference
Interpretation of ambiguous TP53 test results: mosaicism, clonal hematopoiesis, and variants of uncertain significance
10.1002/jgc4.1789 · 2024 · External reference
Clinical management of TP53 mosaic variants found on germline genetic testing
10.1016/j.cancergen.2024.04.002 · 2024 · External reference
Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1
10.1007/s10147-021-02011-w · 2021 · External reference
Precision oncology and the universal health coverage system in Japan
10.1200/po.19.00291 · 2019 · External reference
Proposed framework for triage of putative germline variants detected via tumour genomic testing in UK oncology practice
10.1136/jmg-2025-110947 · 2025 · External reference
Potential pathogenic germline variant reporting from tumor comprehensive genomic profiling complements classic approaches to germline testing
10.1038/s41698-023-00429-1 · 2023 · External reference
Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: a retrospective analysis at a single facility
10.1038/s10038-023-01133-5 · 2023 · External reference
High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants
10.1038/s41591-019-0652-7 · 2019 · External reference
Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy
10.1038/s10038-024-01294-x · 2025 · External reference
Germline pathogenic variants detected by GenMineTOP: insight from a nationwide tumor/normal paired comprehensive genomic profiling test, in Japan
10.1038/s10038-025-01389-z · 2026 · External reference
Evaluating somatic tumor mutation detection without matched normal samples
10.1186/s40246-017-0118-2 · 2017 · External reference
TP53 mutations detected in circulating tumor cells present in the blood of metastatic triple negative breast cancer patients
10.1186/s13058-014-0445-3 · 2014 · External reference
A case of Li-Fraumeni syndrome caused by a 3.6 kb deletion in the TP53 gene suggested by additional data from the NCC Oncopanel
10.1093/jjco/hyaf011 · 2025 · External reference
Present status of germline findings in precision medicine for Japanese cancer patients: issues in the current system
10.1093/jjco/hyac046 · 2022 · External reference
Germline pathogenic variant prediction model for tumor-only sequencing based on Japanese clinicogenomic database
10.1158/1078-0432.ccr-25-2985 · 2026 · External reference
Uptake of cascade tests in relatives of patients undergoing cancer precision medicine in Japan
10.1093/jjco/hyag022 · 2026 · External reference
