ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Genotype-phenotype associations among panel-based TP53+ subjects.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- [A combination of endogenous hypercortisolism and primary hyperparathyroidism: clinical and genetic characteristics].Problemy endokrinologii · 2026Observational
- Genotypic and phenotypic characteristics of germline TP53 variant carriers: experience from two cancer genetic counseling units.Familial cancer · 2026Article
- Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories.International journal of cancer · 2025Article
- TP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers.Journal of the National Cancer Institute · 2025Article
- Exploiting somatic oncogenic driver alterations in a patient with Li-Fraumeni syndrome- paving the path towards precision medicine: a case report.Journal of cancer research and clinical oncology · 2025Article
- Prevalence of germline variants in Brazilian pancreatic carcinoma patients.Scientific reports · 2024Article
- Case series of Li-Fraumeni syndrome: carcinogenic mechanisms in breast cancer with TP53 pathogenic variant carriers.Breast cancer (Tokyo, Japan) · 2024Article
- 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
- Li-Fraumeni syndrome presenting with de novo TP53 mutation, severe phenotype and advanced paternal age: a case report.Hereditary cancer in clinical practice · 2024Article
- The Spectrum of Germline Nucleotide Variants in Gastric Cancer Patients in the Kyrgyz Republic.Current issues in molecular biology · 2023Article
- Genotype-phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry.Journal of hematology & oncology · 2022Article
- Lessons Learned in Practice with Li-Fraumeni Syndrome: LFS-Related Breast Cancer Treatment Strategy and Establishment of a Surveillance System.Juntendo Iji zasshi = Juntendo medical journal · 2022Article
- 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
- Paired Tumor-Normal Sequencing Provides Insights Into the TP53-Related Cancer Spectrum in Patients With Li-Fraumeni Syndrome.Journal of the National Cancer Institute · 2021Article
- Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil.PloS one · 2021Article
- Cancer Genetic Counseling-Current Practice and Future Challenges.Cold Spring Harbor perspectives in medicine · 2020Review
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposePanel testing has led to the identification of TP53 pathogenic/likely pathogenic (P/LP) variant carriers (TP53+) who exhibit a broad range of phenotypes. We sought to evaluate and compare genotype-phenotype associations among TP53+ panel-ascertained subjects.
methodsBetween 2012 and 2017, 317 TP53+ subjects (279 females and 38 males) identified through panel testing at one testing laboratory were found to have evaluable clinical histories and molecular results. Subject cancer histories were obtained from test requisition forms. P/LP variants were categorized by type and were examined in relation to phenotype.
resultsLoss-of-function (LOF) variants were associated with the earliest age at first cancer, with a median age of 30.5 years (P = 0.014); increased frequency of a sarcoma diagnosis (P = 0.016); and more often meeting classic LFS testing and Chompret 2015 criteria (P = 0.004 and 0.002 respectively), as compared with dominant-negative missense, other missense, or miscellaneous (splice or in-frame deletion) P/LP variant categories.
conclusionLoss-of-function variants were more often associated with characteristic LFS cancer histories than other variant categories in TP53+ carriers ascertained through multigene panel testing. These findings require validation in other TP53+ cohorts. Genetic counseling for panel-ascertained TP53+ individuals should reflect the dynamic expansion of the Li-Fraumeni syndrome phenotype.
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