Associated Papers
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
TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup.
Fischer NW et al.
Nature Communications, 2025
DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.
Tan S et al.
Cancer, 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
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
Genomic profiling of a metastatic anaplastic melanocytic neuroectodermal tumor arising from a mature thymic teratoma as part of a mediastinal germ cell tumor.
Mayeur S et al.
Cold Spring Harbor Molecular Case Studies, 2023
Different impacts of TP53 mutations on cell cycle-related gene expression among cancer types.
Sasaki K et al.
Scientific Reports, 2023
Mutual exclusivity of ESR1 and TP53 mutations in endocrine resistant metastatic breast cancer.
Li Z et al.
Npj Breast Cancer, 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
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.
de Andrade KC et al.
Human Mutation, 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
Distinct profiles of TERT promoter mutations and telomerase expression in head and neck cancer and cervical carcinoma.
Annunziata C et al.
International Journal of Cancer, 2018
Combined activation of MAP kinase pathway and β-catenin signaling cause deep penetrating nevi.
Yeh I et al.
Nature Communications, 2017
TP53 mutations in astrocytic gliomas: an association with histological grade, TP53 codon 72 polymorphism and p53 expression.
Faria MH et al.
Apmis : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica, 2012
High incidence of protein-truncating TP53 mutations in BRCA1-related breast cancer.
Holstege H et al.
Cancer Research, 2009
Ddx42p--a human DEAD box protein with RNA chaperone activities.
Uhlmann-Schiffler H et al.
Nucleic Acids Research, 2006