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
Mutations in the TP53, VEGFA, and CTH Genes as Key Molecular Markers for the Diagnosis of Glioblastoma.
Khalil SS et al.
Cureus, 2024
Circulating tumour mutation detection in triple-negative breast cancer as an adjunct to tissue response assessment.
Zaikova E et al.
Npj Breast Cancer, 2024
[Anthra-cycline-Induced Cardiotoxicity: the Role of Genetic Predictors].
Kopeva KV et al.
Kardiologiia, 2023
Different impacts of TP53 mutations on cell cycle-related gene expression among cancer types.
Sasaki K et al.
Scientific Reports, 2023
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
Molecular changes during progression from nonmuscle invasive to advanced urothelial carcinoma.
Sjödahl G et al.
International Journal of Cancer, 2020
Identification of most damaging nsSNPs in human CCR6 gene: In silico analyses.
Akhtar M et al.
International Journal of Immunogenetics, 2019
BRAF Mutations and Dysregulation of the MAP Kinase Pathway Associated to Sinonasal Mucosal Melanomas.
Colombino M et al.
Journal of Clinical Medicine, 2019
Non-invasive detection of EGFR and TP53 mutations through the combination of plasma, urine and sputum in advanced non-small cell lung cancer.
Wu Z et al.
Oncology Letters, 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
Targeted next-generation sequencing for analyzing the genetic alterations in atypical adenomatous hyperplasia and adenocarcinoma in situ.
Xu X et al.
Journal of Cancer Research and Clinical Oncology, 2017
Sensitive droplet digital PCR method for detection of TERT promoter mutations in cell free DNA from patients with metastatic melanoma.
McEvoy AC et al.
Oncotarget, 2017
Application of a multi-gene next-generation sequencing panel to a non-invasive oesophageal cell-sampling device to diagnose dysplastic Barrett's oesophagus.
Katz-Summercorn A et al.
The Journal of Pathology. Clinical Research, 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
Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples.
Dallol A et al.
Journal of Translational Medicine, 2016
Proteome-wide analysis of human disease mutations in short linear motifs: neglected players in cancer?
Uyar B et al.
Molecular Biosystems, 2014
TP53 mutations in human cancer: database reassessment and prospects for the next decade.
Leroy B et al.
Human Mutation, 2014
Clonal architectures and driver mutations in metastatic melanomas.
Ding L et al.
Plos One, 2014
Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.
Vulliamy TJ et al.
Plos One, 2011
High incidence of protein-truncating TP53 mutations in BRCA1-related breast cancer.
Holstege H et al.
Cancer Research, 2009
High frequency of ultraviolet mutations at the INK4a-ARF locus in squamous cell carcinomas from psoralen-plus-ultraviolet-A-treated psoriasis patients.
Kreimer-Erlacher H et al.
The Journal of Investigative Dermatology, 2003