Associated Papers
Evaluation of non-canonical p53 functions in DNA replication and recombination for variant classification.
Jansche R et al.
Cell Death & Disease, 2026
TP53 mutation heterogeneity reveals distinct prognoses in mantle cell lymphoma.
Liu S et al.
Annals of Hematology, 2026
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
High-throughput evaluation of genetic variants with prime editing sensor libraries.
Gould SI et al.
Nature Biotechnology, 2025
Pan-Cancer Analysis of Mutations Affecting Protein Liquid-Liquid Phase Separation Revealing Clinical Implications.
Cen X et al.
Biology, 2025
Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.
Pinheiro M et al.
Nature Communications, 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
Functional evaluation of germline TP53 variants identified in Brazilian families at-risk for Li-Fraumeni syndrome.
Abreu RBV et al.
Scientific Reports, 2024
The TP53-activated E3 ligase RNF144B is a tumour suppressor that prevents genomic instability.
Abad E et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2024
TP53 germline pathogenic variants in modern humans were likely originated during recent human history.
Kou SH et al.
Nar Cancer, 2023
Different impacts of TP53 mutations on cell cycle-related gene expression among cancer types.
Sasaki K et al.
Scientific Reports, 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
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Shah JB et al.
Nature Communications, 2022
TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.
Ben-Cohen G et al.
Briefings in Bioinformatics, 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
Prevalence of germline variants in consensus moderate-to-high-risk predisposition genes to hereditary breast and ovarian cancer in BRCA1/2-negative Brazilian patients.
Gomes R et al.
Breast Cancer Research and Treatment, 2021
Oncogenic driver mutations predict outcome in a cohort of head and neck squamous cell carcinoma (HNSCC) patients within a clinical trial.
Fernández-Mateos J et al.
Scientific Reports, 2020
Lung adenocarcinoma in a patient with Li-Fraumeni syndrome bearing a novel germ-line mutation, TP53R333Vfs*12.
Takahashi S et al.
Japanese Journal of Clinical Oncology, 2020
Design and Testing of a Custom Melanoma Next Generation Sequencing Panel for Analysis of Circulating Tumor DNA.
Diefenbach RJ et al.
Cancers, 2020
TP53 variants of uncertain significance: increasing challenges in variant interpretation and genetic counseling.
Bittar CM et al.
Familial Cancer, 2019
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
DNA-Repair Gene Mutations Are Highly Prevalent in Circulating Tumour DNA from Multiple Myeloma Patients.
Mithraprabhu S et al.
Cancers, 2019
A quantitative model to predict pathogenicity of missense variants in the TP53 gene.
Fortuno C et al.
Human Mutation, 2019
Concern regarding classification of germline TP53 variants as likely pathogenic.
Evans DG et al.
Human Mutation, 2019
Finding driver mutations in cancer: Elucidating the role of background mutational processes.
Brown AL et al.
Plos Computational Biology, 2019
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.
de Andrade KC et al.
Human Mutation, 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
Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.
Li YY et al.
Nature Communications, 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
Use of dedicated gene panel sequencing using next generation sequencing to improve the personalized care of lung cancer.
Kaderbhai CG et al.
Oncotarget, 2016
Retrospective review using targeted deep sequencing reveals mutational differences between gastroesophageal junction and gastric carcinomas.
Li-Chang HH et al.
Bmc Cancer, 2015
TP53 mutations in human cancer: database reassessment and prospects for the next decade.
Leroy B et al.
Human Mutation, 2014
High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort.
Mitchell G et al.
Plos One, 2013
High frequency of complex TP53 mutations in CNS metastases from breast cancer.
Lo Nigro C et al.
British Journal of Cancer, 2012