Associated Papers
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
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › TP53
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
38685100 (PubMed )
Supplement: 13046_2024_3045_MOESM2_ESM.xlsx › Patient_p53_mutated_samples
TP53 germline pathogenic variants in modern humans were likely originated during recent human history.
Kou SH et al.
Nar Cancer, 2023
37304756 (PubMed )
Supplement: zcad025_supplemental_files.zip › Supplementary_Table_1.xlsx › Table_S1
Different impacts of TP53 mutations on cell cycle-related gene expression among cancer types.
Sasaki K et al.
Scientific Reports, 2023
36964217 (PubMed )
Supplement: 41598_2023_32092_MOESM1_ESM.xlsx › Suppl._Table_S4
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
36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST12-TP53
Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.
Boström M et al.
Nature Communications, 2022
36396655 (PubMed )
Supplement: 41467_2022_34746_MOESM10_ESM.xlsx › Supplementary_Data_7
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TP53
p53 mutants G245S and R337H associated with the Li-Fraumeni syndrome regulate distinct metabolic pathways.
Meneghetti BV et al.
Biochimie, 2022
Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.
Garcia-Prieto CA et al.
Bioinformatics (oxford, England), 2022
35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_8.xlsx › Sheet1
Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.
Adema V et al.
Ebiomedicine, 2022
35617825 (PubMed )
Supplement: mmc3.xlsx › Suppl_Table_3
Different hotspot p53 mutants exert distinct phenotypes and predict outcome of colorectal cancer patients.
Hassin O et al.
Nature Communications, 2022
35589715 (PubMed )
Supplement: 41467_2022_30481_MOESM4_ESM.xlsx › ______1
Aberrant somatic hypermutation of CCND1 generates non-coding drivers of mantle cell lymphomagenesis.
Müller H et al.
Cancer Gene Therapy, 2022
35145272 (PubMed )
Supplement: 41417_2022_428_MOESM1_ESM.xlsx › 5k_data_set
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_2.xlsx › Sheet1
Spatially interacting phosphorylation sites and mutations in cancer.
Huang KL et al.
Nature Communications, 2021
33875650 (PubMed )
Supplement: 41467_2021_22481_MOESM4_ESM.xlsx › TableS6.RecurrenceClusters
Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.
Zhang H et al.
Oncology Letters, 2021
33692861 (PubMed )
Supplement: Supplementary_Data.pdf
p53 tetramerization: at the center of the dominant-negative effect of mutant p53.
Gencel-Augusto J et al.
Genes & Development, 2020
Somatic Evolution in Non-neoplastic IBD-Affected Colon.
Olafsson S et al.
Cell, 2020
32697969 (PubMed )
Supplement: mmc4.xlsx › A__TCGA_hotspots
Identification of relevant genetic alterations in cancer using topological data analysis.
Rabadán R et al.
Nature Communications, 2020
32732999 (PubMed )
Supplement: 41467_2020_17659_MOESM3_ESM.xls › TableS1
Finding driver mutations in cancer: Elucidating the role of background mutational processes.
Brown AL et al.
Plos Computational Biology, 2019
31034466 (PubMed )
Supplement: pcbi.1006981.s010.xlsx › final_benchmark
Clonal evolution in patients with chronic lymphocytic leukaemia developing resistance to BTK inhibition.
Burger JA et al.
Nature Communications, 2016
27199251 (PubMed )
Supplement: ncomms11589-s2.xlsx › MM_workingCopy-1.txt
Structure-Based Analysis Reveals Cancer Missense Mutations Target Protein Interaction Interfaces.
Engin HB et al.
Plos One, 2016
27043210 (PubMed )
Supplement: pone.0152929.s003.xlsx › mut_effects_per_ppi
Prognostic value of TP53 gene mutations in myelodysplastic syndromes and acute myeloid leukemia treated with azacitidine.
Bally C et al.
Leukemia Research, 2014
TP53 mutations in human cancer: database reassessment and prospects for the next decade.
Leroy B et al.
Human Mutation, 2014
24665023 (PubMed )
Supplement: supplement_1.pdf
Frequent MAGE mutations in human melanoma.
Caballero OL et al.
Plos One, 2010
20862285 (PubMed )
Supplement: pone.0012773.s003.xls › Sheet1
Mutations in the ATM gene lead to impaired overall and treatment-free survival that is independent of IGVH mutation status in patients with B-CLL.
Austen B et al.
Blood, 2005
The relationship among p53 oligomer formation, structure and transcriptional activity using a comprehensive missense mutation library.
Kawaguchi T et al.
Oncogene, 2005
Characterization of the p53 mutants ability to inhibit p73 beta transactivation using a yeast-based functional assay.
Monti P et al.
Oncogene, 2003
Revisiting pediatric HGGs and PNETs according to the WHO CNS5 criteria: A clinical and genomic retrospective analysis.
Kim JW et al.
Neuro-oncology Advances, 0
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