Associated Papers
Mice carrying nonsense mutant p53 develop frequent multicentric or metastatic tumors.
Strandgren C et al.
Cell Death & Disease, 2025
High-throughput evaluation of genetic variants with prime editing sensor libraries.
Gould SI et al.
Nature Biotechnology, 2025
TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup.
Fischer NW et al.
Nature Communications, 2025
In-frame germline TP53 variant impairs p53 oligomerization and predisposes to cancer.
Vanikova L et al.
Scientific Reports, 2025
Variation at the R181 residue of p53 confers loss of p53 DNA binding cooperativity with the retention of mitochondrial-associated apoptosis.
Moses R et al.
Biorxiv : the Preprint Server for Biology, 2025
Hematologic Malignancy Frequency, Phenotypes, and Outcomes in Li-Fraumeni Syndrome.
Vagher J et al.
Jco Precision Oncology, 2025
Suppression of stress granule formation is a vulnerability imposed by mutant p53.
Thoenen E et al.
Nature Communications, 2025
Personalized screening strategies for TP53 R337H carriers: a retrospective cohort study of tumor spectrum in Li-Fraumeni syndrome adult carriers.
Galante PAF et al.
Lancet Regional Health. Americas, 2025
Correlation of p53 oligomeric status and its subcellular localization in the presence of the AML-associated NPM mutant.
Holoubek A et al.
Plos One, 2025
Variation characteristics and clinical significance of TP53 in patients with myeloid neoplasms.
Ma Q et al.
Hematology (amsterdam, Netherlands), 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Comparison of TP53 mutations in myelodysplasia and acute leukemia suggests divergent roles in initiation and progression.
Jambhekar A et al.
Blood Neoplasia, 2024
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
TP53 germline pathogenic variants in modern humans were likely originated during recent human history.
Kou SH et al.
Nar Cancer, 2023
Li-Fraumeni Syndrome-Associated Dimer-Forming Mutant p53 Promotes Transactivation-Independent Mitochondrial Cell Death.
Choe JH et al.
Cancer Discovery, 2023
Dimeric p53 Mutant Elicits Unique Tumor-Suppressive Activities through an Altered Metabolic Program.
Gencel-Augusto J et al.
Cancer Discovery, 2023
p53 Oligomerization Domain Mutants: A New Class of Mutants That Retain "License to Kill".
Stieg D et al.
Cancer Discovery, 2023
Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification.
Tam B et al.
Iscience, 2023
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 2023
Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.
Haefliger S et al.
Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Discrepancies between tumor genomic profiling and germline genetic testing.
Pauley K et al.
Esmo Open, 2022
TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.
Ben-Cohen G et al.
Briefings in Bioinformatics, 2022
Germline and somatic variants in ovarian carcinoma: A next-generation sequencing (NGS) analysis.
Andrikopoulou A et al.
Frontiers in Oncology, 2022
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
G V et al.
Frontiers in Genetics, 2022
Cancer incidence, patterns, and genotype-phenotype associations in individuals with pathogenic or likely pathogenic germline TP53 variants: an observational cohort study.
de Andrade KC et al.
The Lancet. Oncology, 2021
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Fortuno C et al.
Human Mutation, 2021
Oligomerization of Mutant p53 R273H is not Required for Gain-of-Function Chromatin Associated Activities.
Annor GK et al.
Frontiers in Cell and Developmental Biology, 2021
p53 tetramerization: at the center of the dominant-negative effect of mutant p53.
Gencel-Augusto J et al.
Genes & Development, 2020
A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome.
Gao F et al.
Genome Research, 2020
Reassessing the role of high dose cytarabine and mitoxantrone in relapsed/refractory acute myeloid leukemia.
Canaani J et al.
Oncotarget, 2020
Establishment and Characterization of a Novel Primitive Yolk Sac Tumour Cell Line, TC587.
Iwasaki T et al.
Anticancer Research, 2020
From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.
Quinn EA et al.
Cold Spring Harbor Molecular Case Studies, 2019
Finding driver mutations in cancer: Elucidating the role of background mutational processes.
Brown AL et al.
Plos Computational Biology, 2019
Detection of ERBB2 (HER2) Gene Amplification Events in Cell-Free DNA and Response to Anti-HER2 Agents in a Large Asian Cancer Patient Cohort.
Lee J et al.
Frontiers in Oncology, 2019
Association Between the Oligomeric Status of p53 and Clinical Outcomes in Li-Fraumeni Syndrome.
Fischer NW et al.
Journal of the National Cancer Institute, 2018
Natural (and Unnatural) Small Molecules as Pharmacological Chaperones and Inhibitors in Cancer.
Betancor-Fernández I et al.
Handbook of Experimental Pharmacology, 2018
Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort.
Mai PL et al.
Jama Oncology, 2017
p53 Proteoforms and Intrinsic Disorder: An Illustration of the Protein Structure-Function Continuum Concept.
Uversky VN
International Journal of Molecular Sciences, 2016
Tetramer formation of tumor suppressor protein p53: Structure, function, and applications.
Kamada R et al.
Biopolymers, 2016
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study.
Villani A et al.
The Lancet. Oncology, 2016