Associated Papers
TP53 mutation heterogeneity reveals distinct prognoses in mantle cell lymphoma.
Liu S et al.
Annals of Hematology, 2026
Atypical teratoid rhabdoid tumor with extraneural metastases: a case report with genomic analysis.
Yaqoob N et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 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
The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.
Torrens L et al.
Nature Genetics, 2025
TP53 Mutation Status in Myelodysplastic Neoplasm and Acute Myeloid Leukemia: Impact of Reclassification Based on the 5th WHO and International Consensus Classification Criteria: A Korean Multicenter Study.
Kim HY et al.
Annals of Laboratory Medicine, 2025
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.
Fortuno C et al.
Human Genomics, 2025
Cancer risk in carriers of TP53 germline variants grouped into different functional categories.
Müntnich LJ et al.
Jnci Cancer Spectrum, 2025
Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.
Funk JS et al.
Nature Genetics, 2025
Comprehensive classification of TP53 somatic missense variants based on their impact on p53 structural stability.
Tam B et al.
Briefings in Bioinformatics, 2024
Biomarker analysis of the ASPEN study comparing zanubrutinib with ibrutinib for patients with Waldenström macroglobulinemia.
Tam CS et al.
Blood Advances, 2024
Early Cancer Detection in Li-Fraumeni Syndrome with Cell-Free DNA.
Wong D et al.
Cancer Discovery, 2024
TP53 germline pathogenic variants in modern humans were likely originated during recent human history.
Kou SH et al.
Nar Cancer, 2023
Splicing-Disrupting Mutations in Inherited Predisposition to Solid Pediatric Cancer.
Alba-Pavón P et al.
Cancers, 2022
SMARCB1-deficient and SMARCA4-deficient Malignant Brain Tumors With Complex Copy Number Alterations and TP53 Mutations May Represent the First Clinical Manifestation of Li-Fraumeni Syndrome.
Hasselblatt M et al.
The American Journal of Surgical Pathology, 2022
Upfront Next Generation Sequencing in Non-Small Cell Lung Cancer.
Kuang S et al.
Current Oncology (toronto, Ont.), 2022
TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge.
Grill S et al.
Archives of Gynecology and Obstetrics, 2021
Application of Cluster Analysis of Time Evolution for Magnetic Resonance Imaging -Derived Oxygen Extraction Fraction Mapping: A Promising Strategy for the Genetic Profile Prediction and Grading of Glioma.
Shen N et al.
Frontiers in Neuroscience, 2021
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
BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature.
Ali M et al.
Bmc Medical Genetics, 2019
Rapid, ultra low coverage copy number profiling of cell-free DNA as a precision oncology screening strategy.
Hovelson DH et al.
Oncotarget, 2017
Germ-line and somatic EPHA2 coding variants in lens aging and cataract.
Bennett TM et al.
Plos One, 2017
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
Towards a Next-Generation Sequencing Diagnostic Service for Tumour Genotyping: A Comparison of Panels and Platforms.
Burghel GJ et al.
Biomed Research International, 2015
Epidermal growth factor receptor mutation in lung cancer are linked to bronchioloalveolar differentiation.
Blons H et al.
The American Journal of Surgical Pathology, 2006
Splice mutations in the p53 gene: case report and review of the literature.
Holmila R et al.
Human Mutation, 2003
Colorectal Cancer with EML4-ALK Fusion Gene Response to Alectinib: A Case Report and Review of the Literature.
Hsiao SY et al.
Case Reports in Oncology, 0