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
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
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
One-step generation of tumor models by base editor multiplexing in adult stem cell-derived organoids.
Geurts MH et al.
Nature Communications, 2023
Different impacts of TP53 mutations on cell cycle-related gene expression among cancer types.
Sasaki K et al.
Scientific Reports, 2023
Low-burden TP53 mutations in CLL: clinical impact and clonal evolution within the context of different treatment options.
Malcikova J et al.
Blood, 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
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
Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.
Leroy B et al.
Cancer Research, 2017
High-resolution melting assay (HRMA) is a simple and sensitive stool-based DNA Test for the detection of mutations in colorectal neoplasms.
Li BS et al.
Clinical Colorectal Cancer, 2012
Interaction between the transactivation domain of p53 and PC4 exemplifies acidic activation domains as single-stranded DNA mimics.
Rajagopalan S et al.
The Journal of Biological Chemistry, 2009
High incidence of protein-truncating TP53 mutations in BRCA1-related breast cancer.
Holstege H et al.
Cancer Research, 2009
In vitro evolution of thermostable p53 variants.
Matsumura I et al.
Protein Science : a Publication of the Protein Society, 1999