Associated Papers
Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome.
Montellier E et al.
Ebiomedicine, 2026
Complex genetic landscape in CLL: Clinical impact on patients' survival and insights into the altered molecular pathways.
Caputo C et al.
Molecular Therapy. Oncology, 2025
Identification of high-risk signatures and therapeutic targets through molecular characterization and immune profiling of TP53-mutant breast cancer.
Paulino PJIV et al.
Journal, Genetic Engineering & Biotechnology, 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
TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup.
Fischer NW et al.
Nature Communications, 2025
GnomAD Missense Variants of Uncertain Significance: Implications for p53 Stability and Phosphorylation.
García-Ayala FD et al.
International Journal of Molecular Sciences, 2025
Multi-gene panel sequencing reveals the relationship between driver gene mutation and clinical characteristics in lung adenocarcinoma.
Li J et al.
Discover Oncology, 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
Switching anti-EGFR antibody re-sensitizes head and neck cancer patient following acquired resistance to cetuximab.
Khattri A et al.
Cancer Gene Therapy, 2024
Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.
Pinheiro M et al.
Nature Communications, 2024
Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.
Halik A et al.
Journal of Hematology & Oncology, 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
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
Comparison of TP53 mutations in myelodysplasia and acute leukemia suggests divergent roles in initiation and progression.
Jambhekar A et al.
Blood Neoplasia, 2024
Genomic characterization of IDH-mutant astrocytoma progression to grade 4 in the treatment setting.
Rautajoki KJ et al.
Acta Neuropathologica Communications, 2023
Different impacts of TP53 mutations on cell cycle-related gene expression among cancer types.
Sasaki K et al.
Scientific Reports, 2023
Whole-genome analysis identifies novel drivers and high-risk double-hit events in relapsed/refractory myeloma.
Ansari-Pour N et al.
Blood, 2023
NTRK fusion positive colorectal cancer is a unique subset of CRC with high TMB and microsatellite instability.
Wang H et al.
Cancer Medicine, 2022
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022
Role of Homologous Recombination Repair (HRR) Genes in Uterine Leiomyosarcomas: A Retrospective Analysis.
Ciccarone F et al.
Cancers, 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
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Lesueur F 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
Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.
Zhang H et al.
Oncology Letters, 2021
Mutation patterns in recurrent and/or metastatic oropharyngeal squamous cell carcinomas in relation to human papillomavirus status.
Reder H et al.
Cancer Medicine, 2021
SEPT6_TRIM33 Gene Fusion and Mutated TP53 Pathway Associate With Unfavorable Prognosis in Patients With B-Cell Lymphomas.
Fu H et al.
Frontiers in Oncology, 2021
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Popp B et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
Whole-exome sequencing reveals potential mechanisms of drug resistance to FGFR3-TACC3 targeted therapy and subsequent drug selection: towards a personalized medicine.
Tong Z et al.
Bmc Medical Genomics, 2020
Functional Classification of TP53 Mutations in Acute Myeloid Leukemia.
Dutta S et al.
Cancers, 2020
Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.
Manca A et al.
Journal of Translational Medicine, 2019
Finding driver mutations in cancer: Elucidating the role of background mutational processes.
Brown AL et al.
Plos Computational Biology, 2019
Characterization of frequently mutated cancer genes in Chinese breast tumors: a comparison of Chinese and TCGA cohorts.
Zhang G et al.
Annals of Translational Medicine, 2019
Clinical implications of subclonal TP53 mutations in acute myeloid leukemia.
Prochazka KT et al.
Haematologica, 2019
Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma.
Wong K et al.
Nature Communications, 2019
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.
de Andrade KC et al.
Human Mutation, 2019
Mutational processes shape the landscape of TP53 mutations in human cancer.
Giacomelli AO et al.
Nature Genetics, 2018
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
Analytic, Preanalytic, and Clinical Validation of p53 IHC for Detection of TP53 Missense Mutation in Prostate Cancer.
Guedes LB et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
Identification of novel mutations in Japanese ovarian clear cell carcinoma patients using optimized targeted NGS for clinical diagnosis.
Maru Y et al.
Gynecologic Oncology, 2017
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
TP53 mutations in human cancer: database reassessment and prospects for the next decade.
Leroy B et al.
Human Mutation, 2014
High prevalence of MAP2K1 mutations in variant and IGHV4-34-expressing hairy-cell leukemias.
Waterfall JJ et al.
Nature Genetics, 2014