Associated Papers
Somatic mutation and selection at population scale.
Lawson ARJ et al.
Nature, 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
High-throughput evaluation of genetic variants with prime editing sensor libraries.
Gould SI et al.
Nature Biotechnology, 2025
Li-Fraumeni Syndrome-Associated p53 Variants Disrupt Kidney and Urinary Tract Development.
Romero A et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Utilizing TP53 hotspot mutations as effective predictors of gemcitabine treatment outcome in non-small-cell lung cancer.
Tseng YH et al.
Cell Death Discovery, 2025
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.
Fortuno C et al.
Human Genomics, 2025
Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.
Funk JS et al.
Nature Genetics, 2025
ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-2024 update.
Malcikova J et al.
Leukemia, 2024
Intratumor heterogeneity in colorectal cancer: Distribution of tumor suppressor gene variants with regard to patient lymph node status.
Wątor G et al.
Clinical Genetics, 2023
Prospective clinical sequencing of 1016 Chinese prostate cancer patients: uncovering genomic characterization and race disparity.
Wei Y et al.
Molecular Oncology, 2023
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
G V et al.
Frontiers in Genetics, 2022
Comprehensive Identification of Deleterious TP53 Missense VUS Variants Based on Their Impact on TP53 Structural Stability.
Tam B et al.
International Journal of Molecular Sciences, 2021
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 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
Tumor mutational profile of triple negative breast cancer patients in Thailand revealed distinctive genetic alteration in chromatin remodeling gene.
Niyomnaitham S et al.
Peerj, 2019
Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.
Tessoulin B et al.
Journal of Hematology & Oncology, 2018
Mutational processes shape the landscape of TP53 mutations in human cancer.
Giacomelli AO et al.
Nature Genetics, 2018
Decitabine and Melphalan Fail to Reactivate p73 in p53 Deficient Myeloma Cells.
Gillardin PS et al.
International Journal of Molecular Sciences, 2017
Identification of Circulating Tumor DNA for the Early Detection of Small-cell Lung Cancer.
Fernandez-Cuesta L et al.
Ebiomedicine, 2016
Structure-Based Analysis Reveals Cancer Missense Mutations Target Protein Interaction Interfaces.
Engin HB et al.
Plos One, 2016
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013