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
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
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.
Zhou Y et al.
Journal of Translational Medicine, 2023
TP53 mutations in Romanian patients with colorectal cancer.
Manirakiza F et al.
Genes and Environment : the Official Journal of the Japanese Environmental Mutagen Society, 2023
Different impacts of TP53 mutations on cell cycle-related gene expression among cancer types.
Sasaki K et al.
Scientific Reports, 2023
Polymorphism of VDR Gene and the Sensitivity of Human Leukemia and Lymphoma Cells to Active Forms of Vitamin D.
Gleba JJ et al.
Cancers, 2022
Exome Sequencing with Validations and Expression of p16/CDKN2A Shows no Association with HPV in Oral Cancers.
Shyamsundar V et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2022
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.
Ticha I et al.
Scientific Reports, 2019
Profiling cancer-related gene mutations in oral squamous cell carcinoma from Japanese patients by targeted amplicon sequencing.
Nakagaki T et al.
Oncotarget, 2017
Germ-line and somatic EPHA2 coding variants in lens aging and cataract.
Bennett TM et al.
Plos One, 2017
Diagnosis of pancreatic lesions collected by endoscopic ultrasound-guided fine-needle aspiration using next-generation sequencing.
Kameta E et al.
Oncology Letters, 2016
BRAF(V600E) Kinase Domain Duplication Identified in Therapy-Refractory Melanoma Patient-Derived Xenografts.
Kemper K et al.
Cell Reports, 2016
Bioinformatics study of cancer-related mutations within p53 phosphorylation site motifs.
Ji X et al.
International Journal of Molecular Sciences, 2014
EGFR and p53 status of pulmonary pleomorphic carcinoma: implications for EGFR tyrosine kinase inhibitors therapy of an aggressive lung malignancy.
Chang YL et al.
Annals of Surgical Oncology, 2011
Functional analysis and molecular modeling show a preserved wild-type activity of p53(C238Y).
Ferrone M et al.
Molecular Cancer Therapeutics, 2006