Associated Papers
Comparison of somatic variant oncogenicity classification using ClinGen/CGC/VICC guidelines and QIAGEN Clinical Insight Interpret decision support software.
Goverdhan A et al.
Cancer Genetics, 2025
A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.
Fortuno C et al.
Genome Medicine, 2025
Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53.
Fortuno C et al.
Hgg Advances, 2025
TP53 p.R181H is enriched in the Swedish cohort (SWEP53) and associated with a distinct breast and prostate phenotype.
Sun Zhang A et al.
Scientific Reports, 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
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
The TP53 tumor suppressor gene: From molecular biology to clinical investigations.
Baliakas P et al.
Journal of Internal Medicine, 2025
Transmission ratio distortion of germline TP53 variants in Li-Fraumeni syndrome families.
Halpern N et al.
Cancer, 2025
Hematologic Malignancy Frequency, Phenotypes, and Outcomes in Li-Fraumeni Syndrome.
Vagher J et al.
Jco Precision Oncology, 2025
Clinicopathologic Features of Breast Tumors in Germline TP53 Variant-Associated Li-Fraumeni Syndrome.
Narasimhamurthy M et al.
The American Journal of Surgical Pathology, 2025
Cancer Susceptibility Gene Testing in Patients With Pancreatic Ductal Adenocarcinoma: Implementation in a Cancer Center Oncology Clinic.
Sinan H et al.
Jco Precision Oncology, 2025
Clinical and genetic characteristics of carriers of the TP53 c.541C > T, p.Arg181Cys pathogenic variant causing hereditary cancer in patients of Arab-Muslim descent.
Arnon J et al.
Familial Cancer, 2024
Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence.
Luo M et al.
Journal of the National Cancer Institute, 2024
Exploring p53 protein expression and its link to TP53 mutation in myelodysplasia-related malignancies-Interpretive challenges and potential field of applications.
Bedekovics J et al.
Histopathology, 2024
Distinct genomic and immunologic tumor evolution in germline TP53-driven breast cancers.
Boruah N et al.
Biorxiv : the Preprint Server for Biology, 2024
Pharmacological reactivation of p53 in the era of precision anticancer medicine.
Tuval A et al.
Nature Reviews. Clinical Oncology, 2024
The Ashkenazi-Centric G334R Variant of TP53 is Severely Impaired for Transactivation but Retains Tumor Suppressor Function in a Mouse Model.
Stieg DC et al.
Molecular and Cellular Biology, 2024
Expanding Roles of the E2F-RB-p53 Pathway in Tumor Suppression.
Zhou Y et al.
Biology, 2023
Ring Chromosomes in Hematological Malignancies Are Associated with TP53 Gene Mutations and Characteristic Copy Number Variants.
Boyd RJ et al.
Cancers, 2023
Emerging insights into ethnic-specific TP53 germline variants.
Fischer NW et al.
Journal of the National Cancer Institute, 2023
An African-Specific Variant of TP53 Reveals PADI4 as a Regulator of p53-Mediated Tumor Suppression.
Indeglia A et al.
Cancer Discovery, 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
Common activities and predictive gene signature identified for genetic hypomorphs of TP53.
Leung JC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Deep Molecular and In Silico Protein Analysis of p53 Alteration in Myelodysplastic Neoplasia and Acute Myeloid Leukemia.
Madarász K et al.
Cells, 2022
Benign SNPs in the Coding Region of TP53: Finding the Needles in a Haystack of Pathogenic Variants.
Soussi T
Cancer Research, 2022
Li-Fraumeni Syndrome: Mutation of TP53 Is a Biomarker of Hereditary Predisposition to Tumor: New Insights and Advances in the Treatment.
Rocca V et al.
Cancers, 2022
TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.
Ben-Cohen G et al.
Briefings in Bioinformatics, 2022
Li-Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype-phenotype correlation.
Sassi H et al.
Bmc Medical Genomics, 2022
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
G V et al.
Frontiers in Genetics, 2022
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.
Doffe F et al.
Cell Death and Differentiation, 2021
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Fortuno C et al.
Human Mutation, 2021
Double heterozygosity for TP53 and BRCA1 mutations: clinical implications in populations with founder mutations.
Shani H et al.
Breast Cancer Research and Treatment, 2021
A Rare TP53 Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers.
Powers J et al.
Cancer Research, 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
XAF1 as a modifier of p53 function and cancer susceptibility.
Pinto EM et al.
Science Advances, 2020