Associated Papers
TP53 mutation heterogeneity reveals distinct prognoses in mantle cell lymphoma.
Liu S et al.
Annals of Hematology, 2026
Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome.
Montellier E et al.
Ebiomedicine, 2026
CDKN2A homozygous deletions and TSC2 somatic mutations in metastatic pancreatic neuroendocrine tumors.
Jesus TT et al.
Npj Precision Oncology, 2025
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 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
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
Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes.
O'Neill K et al.
Cell Genomics, 2024
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.
Liu XD et al.
Heliyon, 2024
TP53 germline pathogenic variants in modern humans were likely originated during recent human history.
Kou SH et al.
Nar Cancer, 2023
Different impacts of TP53 mutations on cell cycle-related gene expression among cancer types.
Sasaki K et al.
Scientific Reports, 2023
Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification.
Tam B et al.
Iscience, 2023
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Somatic mutation detection and KRAS amplification in testicular germ cell tumors.
Cabral ERM et al.
Frontiers in Oncology, 2023
p53 immunohistochemistry in endometrial cancer: clinical and molecular correlates in the PORTEC-3 trial.
Vermij L et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 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
TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes.
Terradas M et al.
Gut, 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
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Fortuno C et al.
Human Mutation, 2021
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.
Wappenschmidt B et al.
Geburtshilfe Und Frauenheilkunde, 2020
The Discordance of Gene Mutations between Circulating Tumor Cells and Primary/Metastatic Tumor.
Wang Q et al.
Molecular Therapy Oncolytics, 2019
Nucleotide variations of TP53 exon 4 found in intracranial meningioma and in silico prediction of their significance.
Bukovac A et al.
Molecular and Clinical Oncology, 2019
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
McCabe MJ et al.
Scientific Reports, 2019
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Enrichment of short mutant cell-free DNA fragments enhanced detection of pancreatic cancer.
Liu X et al.
Ebiomedicine, 2019
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.
de Andrade KC et al.
Human Mutation, 2019
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
Next-generation sequencing in familial breast cancer patients from Lebanon.
Jalkh N et al.
Bmc Medical Genomics, 2017
Aggregation and Prion-Like Properties of Misfolded Tumor Suppressors: Is Cancer a Prion Disease?
Costa DC et al.
Cold Spring Harbor Perspectives in Biology, 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
Misfolding, Aggregation, and Disordered Segments in c-Abl and p53 in Human Cancer.
de Oliveira GA et al.
Frontiers in Oncology, 2015
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
Identification of new p53 target microRNAs by bioinformatics and functional analysis.
Bisio A et al.
Bmc Cancer, 2013
An identical, complex TP53 mutation arising independently in two unrelated families with diverse cancer profiles: the complexity of interpreting cancer risk in carriers.
Pinto EM et al.
Oncogenesis, 2012
Predicting the functional impact of protein mutations: application to cancer genomics.
Reva B et al.
Nucleic Acids Research, 2011
Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events.
Chen Z et al.
Plos One, 2008