Associated Papers
TP53 mutation heterogeneity reveals distinct prognoses in mantle cell lymphoma.
Liu S et al.
Annals of Hematology, 2026
Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome.
Montellier E et al.
Ebiomedicine, 2026
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
Novel MSH6 exon 5-6 skipping variant in a Taiwanese family with Lynch syndrome: implications for genetic testing and cancer management.
Wang TY et al.
Molecular Cytogenetics, 2025
Minor role of TP53 and TERT promoter mutations in medullary thyroid carcinoma: report of new cases and revision of the literature.
Casalini R et al.
Endocrine, 2025
Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.
Funk JS et al.
Nature Genetics, 2025
Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome.
Montellier E et al.
Iscience, 2024
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.
Dawood M et al.
Genome Medicine, 2024
Molecular Tumor Board of the University Medical Center Groningen (UMCG-MTB): outcome of patients with rare or complex mutational profiles receiving MTB-advised targeted therapy.
de Jager VD et al.
Esmo Open, 2024
Direct measurement of engineered cancer mutations and their transcriptional phenotypes in single cells.
Kim HS et al.
Nature Biotechnology, 2024
Mutations in the TP53, VEGFA, and CTH Genes as Key Molecular Markers for the Diagnosis of Glioblastoma.
Khalil SS et al.
Cureus, 2024
Low-burden TP53 mutations represent frequent genetic events in CLL with an increased risk for treatment initiation.
László T et al.
The Journal of Pathology. Clinical Research, 2024
TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.
Zhou Y et al.
Journal of Translational Medicine, 2023
Somatic gain-of-function mutations in BUD13 promote oncogenesis by disrupting Fbw7 function.
Chen J et al.
The Journal of Experimental Medicine, 2023
Different gene alterations in patients with non-small-cell lung cancer between the eastern and southern China.
Liu C et al.
Heliyon, 2023
Challenging interpretation of germline TP53 variants based on the experience of a national comprehensive cancer centre.
Butz H et al.
Scientific Reports, 2023
Genetic landscape and personalized tracking of tumor mutations in Vietnamese women with breast cancer.
Nguyen Hoang VA et al.
Molecular Oncology, 2023
Different impacts of TP53 mutations on cell cycle-related gene expression among cancer types.
Sasaki K et al.
Scientific Reports, 2023
Assessment of the Mutation Profile of Tonsillar Squamous Cell Carcinomas Using Targeted Next-Generation Sequencing.
Park HY et al.
Biomedicines, 2023
The Broad Spectrum of TP53 Mutations in CLL: Evidence of Multiclonality and Novel Mutation Hotspots.
Lazarian G et al.
Human Mutation, 2023
Benign SNPs in the Coding Region of TP53: Finding the Needles in a Haystack of Pathogenic Variants.
Soussi T
Cancer Research, 2022
Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.
Ghezelayagh TS et al.
Cancer Research Communications, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.
Klonowska K et al.
The Journal of Clinical Investigation, 2022
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Horak P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Aberrant somatic hypermutation of CCND1 generates non-coding drivers of mantle cell lymphomagenesis.
Müller H et al.
Cancer Gene Therapy, 2022
TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.
Ben-Cohen G et al.
Briefings in Bioinformatics, 2022
Investigation of discrepant mismatch repair immunohistochemistry and microsatellite instability polymerase chain reaction test results for gynecologic cancers using next-generation sequencing.
Smithgall MC et al.
Human Pathology, 2022
Landscape of TP53 Alterations in Chronic Lymphocytic Leukemia via Data Mining Mutation Databases.
Soussi T 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
IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.
Barresi V et al.
Acta Neuropathologica Communications, 2021
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
A Genome-Wide Profiling of Glioma Patients with an IDH1 Mutation Using the Catalogue of Somatic Mutations in Cancer Database.
Pappula AL et al.
Cancers, 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 and clinical impact of TP53 germline mutations in Chinese women with breast cancer.
Sheng S et al.
International Journal of Cancer, 2020
Dissection of subclonal evolution by temporal mutation profiling in chronic lymphocytic leukemia patients treated with ibrutinib.
Gángó A et al.
International Journal of Cancer, 2020
Applied precision medicine in metastatic pancreatic ductal adenocarcinoma.
Taghizadeh H et al.
Therapeutic Advances in Medical Oncology, 2020
Forty-five patient-derived xenografts capture the clinical and biological heterogeneity of Wilms tumor.
Murphy AJ et al.
Nature Communications, 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
Clinical aspects of TP53 gene inactivation in diffuse large B-cell lymphoma.
Voropaeva EN et al.
Bmc Medical Genomics, 2019
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.
de Andrade KC et al.
Human Mutation, 2019
Clinically Actionable Insights into Initial and Matched Recurrent Glioblastomas to Inform Novel Treatment Approaches.
Ellis HP et al.
Journal of Oncology, 2019
PIK3CA mutation is a favorable prognostic factor in esophageal cancer: molecular profile by next-generation sequencing using surgically resected formalin-fixed, paraffin-embedded tissue.
Yokota T et al.
Bmc Cancer, 2018