ArticleCell death and differentiation2021
Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.
Article in Cell death and differentiation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 50 citations in OpenAlex.
- Methodological considerations on TP53 variant classification for standardized reporting and interpretation.Leukemia · 2026Article
- Clinical significance of TP53 mutations in patients with acute myeloid leukemia: the HM-SCREEN-JAPAN 01/02 study.International journal of hematology · 2026Article
- Low-penetrance TP53 variants are mainly hypomorphic: an underestimated issue with high clinical significance.NPJ genomic medicine · 2026Article
- Association of TP53 polymorphic variants rs1042522 and rs1642785 with susceptibility and prognosis of acute lymphoblastic leukemia in a Brazilian Amazon population.BMC medical genomics · 2026Article
- Genetic background shapes AI-predicted variant effects.bioRxiv : the preprint server for biology · 2026Article
- New cell lines expanding the diversity of Ewing sarcoma models.International journal of cancer · 2026Article
- Computational screening of oncogenic genetic variations in tumor suppressor proteins driving gastric cancer pathogenesis.PloS one · 2026Article
- Misclassification of TP53 germline variants: implications for survival analysis in AML transplant studies.Leukemia · 2025Article
- In-frame germline TP53 variant impairs p53 oligomerization and predisposes to cancer.Scientific reports · 2025Article
- The TP53 tumor suppressor gene: From molecular biology to clinical investigations.Journal of internal medicine · 2025Review
- Article
- Detection of clinically relevant variants in theHemaSphere · 2025Article
- Functional evaluation of germline TP53 variants identified in Brazilian families at-risk for Li-Fraumeni syndrome.Scientific reports · 2024Article
- Structural basis of p53 inactivation by cavity-creating cancer mutations and its implications for the development of mutant p53 reactivators.Cell death & disease · 2024Article
- The Innate Immune System Surveillance Biomarker p87 in African Americans and Caucasians with Small High-Grade Dysplastic Adenoma [SHiGDA] and Right-SidedGastrointestinal disorders (Basel, Switzerland) · 2024Article
- COSMIC-based mutation database enhances identification efficiency of HLA-I immunopeptidome.Journal of translational medicine · 2024Article
- Emerging insights into ethnic-specific TP53 germline variants.Journal of the National Cancer Institute · 2023Review
- Article
- Mutation Analysis of Pancreatic Juice and Plasma for the Detection of Pancreatic Cancer.International journal of molecular sciences · 2023Article
- An African-Specific Variant of TP53 Reveals PADI4 as a Regulator of p53-Mediated Tumor Suppression.Cancer discovery · 2023Article
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Authors and funding
14 authors at 9 institutions in 5 countries.
Funding
Abstract
Infrequent and rare genetic variants in the human population vastly outnumber common ones. Although they may contribute significantly to the genetic basis of a disease, these seldom-encountered variants may also be miss-identified as pathogenic if no correct references are available. Somatic and germline TP53 variants are associated with multiple neoplastic diseases, and thus have come to serve as a paradigm for genetic analyses in this setting. We searched 14 independent, globally distributed datasets and recovered TP53 SNPs from 202,767 cancer-free individuals. In our analyses, 19 new missense TP53 SNPs, including five novel variants specific to the Asian population, were recurrently identified in multiple datasets. Using a combination of in silico, functional, structural, and genetic approaches, we showed that none of these variants displayed loss of function compared to the normal TP53 gene. In addition, classification using ACMG criteria suggested that they are all benign. Considered together, our data reveal that the TP53 coding region shows far more polymorphism than previously thought and present high ethnic diversity. They furthermore underline the importance of correctly assessing novel variants in all variant-calling pipelines associated with genetic diagnoses for cancer.
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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.