Associated Papers
TP53 mutation heterogeneity reveals distinct prognoses in mantle cell lymphoma.
Liu S et al.
Annals of Hematology, 2026
Somatic mutation and selection at population scale.
Lawson ARJ et al.
Nature, 2025
TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup.
Fischer NW et al.
Nature Communications, 2025
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.
Fortuno C et al.
Human Genomics, 2025
Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.
Funk JS et al.
Nature Genetics, 2025
Skin Cancer Risk Is Increased by Somatic Mutations Detected Noninvasively in Healthy-Appearing Sun-Exposed Skin.
Kaur K et al.
The Journal of Investigative Dermatology, 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
The TP53-activated E3 ligase RNF144B is a tumour suppressor that prevents genomic instability.
Abad E et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2024
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
Targeted Next-Generation Sequencing-Based Multiple Gene Mutation Profiling of Patients with Rectal Adenocarcinoma Receiving or Not Receiving Neoadjuvant Chemoradiotherapy.
Chang YK et al.
International Journal of Molecular Sciences, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Aberrant somatic hypermutation of CCND1 generates non-coding drivers of mantle cell lymphomagenesis.
Müller H et al.
Cancer Gene Therapy, 2022
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
Immune pathways and TP53 missense mutations are associated with longer survival in canine osteosarcoma.
Das S et al.
Communications Biology, 2021
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
Somatic mutation profiles as molecular classifiers of ulcerative colitis-associated colorectal cancer.
Mäki-Nevala S et al.
International Journal of Cancer, 2021
Identification of relevant genetic alterations in cancer using topological data analysis.
Rabadán R et al.
Nature Communications, 2020
A multicenter analysis of genomic profiles and PD-L1 expression of primary lymphoepithelioma-like carcinoma of the lung.
Xie Z et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
Immunogenicity and Immune Silence in Human Cancer.
Yarmarkovich M et al.
Frontiers in Immunology, 2020
Combining Ramachandran plot and molecular dynamics simulation for structural-based variant classification: Using TP53 variants as model.
Tam B et al.
Computational and Structural Biotechnology Journal, 2020
Fam83F induces p53 stabilisation and promotes its activity.
Salama M et al.
Cell Death and Differentiation, 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
A quantitative model to predict pathogenicity of missense variants in the TP53 gene.
Fortuno C et al.
Human Mutation, 2019
Finding driver mutations in cancer: Elucidating the role of background mutational processes.
Brown AL et al.
Plos Computational Biology, 2019
Squamous proliferations on the legs of women: Qualitative examination of histopathology, TP53 sequencing, and implications for diagnosis in a series of 30 cases.
Ko CJ et al.
Journal of the American Academy of Dermatology, 2017
Ligand dependent restoration of human TLR3 signaling and death in p53 mutant cells.
Menendez D et al.
Oncotarget, 2016
Mutational and gene fusion analyses of primary large cell and large cell neuroendocrine lung cancer.
Karlsson A et al.
Oncotarget, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy.
Balbás-Martínez C et al.
Nature Genetics, 2013
Identification of molecular alterations in gastrointestinal carcinomas and dysplastic hamartomas in Peutz-Jeghers syndrome.
Korsse SE et al.
Carcinogenesis, 2013
High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort.
Mitchell G et al.
Plos One, 2013
The human TLR innate immune gene family is differentially influenced by DNA stress and p53 status in cancer cells.
Shatz M et al.
Cancer Research, 2012
Predicting the functional impact of protein mutations: application to cancer genomics.
Reva B et al.
Nucleic Acids Research, 2011
Unique p53 and epidermal growth factor receptor gene mutation status in 46 pulmonary lymphoepithelioma-like carcinomas.
Chang YL et al.
Cancer Science, 2011
Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events.
Chen Z et al.
Plos One, 2008
Isolation of temperature-sensitive p53 mutations from a comprehensive missense mutation library.
Shiraishi K et al.
The Journal of Biological Chemistry, 2004
Amifostine (WR2721) restores transcriptional activity of specific p53 mutant proteins in a yeast functional assay.
Maurici D et al.
Oncogene, 2001
Novel human p53 mutations that are toxic to yeast can enhance transactivation of specific promoters and reactivate tumor p53 mutants.
Inga A et al.
Oncogene, 2001