Associated Papers
Computational prediction of human genetic variants in the mouse genome.
Dong K et al.
Nature Biotechnology, 2025
Citrullination negatively regulates the functions of the p53 protein and opposes its ubiquitination and degradation.
Yang YF et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Computational modeling of human genetic variants in mice.
Dong K et al.
Biorxiv : the Preprint Server for Biology, 2025
Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.
Pinheiro M et al.
Nature Communications, 2024
Subclonal TP53 mutations are frequent and predict resistance to radioimmunotherapy in follicular lymphoma.
Burack WR et al.
Blood Advances, 2023
Recurrent missense variants in clonal hematopoiesis-related genes present in the general population.
Ariste O et al.
Clinical Genetics, 2023
Identification of novel prognostic and predictive biomarkers in salivary duct carcinoma via comprehensive molecular profiling.
Kohsaka S et al.
Npj Precision Oncology, 2022
Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.
Ghezelayagh TS et al.
Cancer Research Communications, 2022
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
G V et al.
Frontiers in Genetics, 2022
Calibration-free NGS quantitation of mutations below 0.01% VAF.
Dai P et al.
Nature Communications, 2021
Comprehensive Identification of Deleterious TP53 Missense VUS Variants Based on Their Impact on TP53 Structural Stability.
Tam B et al.
International Journal of Molecular Sciences, 2021
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
A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.
Xiao J et al.
Bmc Cancer, 2021
Germline pathogenic variants in transcription factors predisposing to pediatric acute myeloid leukemia: results from the French ELAM02 trial.
Fenwarth L et al.
Haematologica, 2021
Genomic Signature of Oral Squamous Cell Carcinomas from Non-Smoking Non-Drinking Patients.
Koo K et al.
Cancers, 2021
Rare and novel RUNX1 fusions in myeloid neoplasms: A single-institute experience.
Aypar U et al.
Genes, Chromosomes & Cancer, 2021
Mutation patterns in recurrent and/or metastatic oropharyngeal squamous cell carcinomas in relation to human papillomavirus status.
Reder H et al.
Cancer Medicine, 2021
Germline variants discovered in lymphoma patients undergoing tumor profiling: a case series.
Scott AJ et al.
Familial Cancer, 2021
Quadruplicate Synchronous Adenocarcinoma of the Colon with Distant Metastases-Long-Term Molecular Follow-Up by KRAS and TP53 Mutational Profiling.
Bádon ES et al.
Diagnostics (basel, Switzerland), 2020
Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.
Manca A et al.
Journal of Translational Medicine, 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
High prevalence of cancer-associated TP53 variants in the gnomAD database: A word of caution concerning the use of variant filtering.
Soussi T et al.
Human Mutation, 2019
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.
de Andrade KC et al.
Human Mutation, 2019
Natural (and Unnatural) Small Molecules as Pharmacological Chaperones and Inhibitors in Cancer.
Betancor-Fernández I et al.
Handbook of Experimental Pharmacology, 2018
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
Using a semi-conductor sequencing-based panel for genotyping of HPV-positive and HPV-negative oropharyngeal cancer: a retrospective pilot study.
Ham JC et al.
Clinical Otolaryngology : Official Journal of Ent-uk ; Official Journal of Netherlands Society for Oto-rhino-laryngology & Cervico-facial Surgery, 2017
TP53 mutations are frequent events in double-hit B-cell lymphomas with MYC and BCL2 but not MYC and BCL6 translocations.
Gebauer N et al.
Leukemia & Lymphoma, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Mutational profiling of familial male breast cancers reveals similarities with luminal A female breast cancer with rare TP53 mutations.
Deb S et al.
British Journal of Cancer, 2014
TP53 mutations in human cancer: database reassessment and prospects for the next decade.
Leroy B et al.
Human Mutation, 2014
Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing era.
Soussi T et al.
Human Mutation, 2014
Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers.
Kumar A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
Beyond BRCA1 and BRCA2 wild-type breast and/or ovarian cancer families: germline mutations in TP53 and PTEN.
Blanco A et al.
Clinical Genetics, 2010