Associated Papers
Acquired on-target alterations drive clinical resistance to p53-Y220C reactivators.
Fece de la Cruz F et al.
Cancer Discovery, 2026
Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome.
Montellier E et al.
Ebiomedicine, 2026
41370968 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Enabling whole genome sequencing analysis from FFPE specimens in clinical oncology.
Domenico D et al.
Nature Communications, 2025
41309586 (PubMed )
Supplement: 41467_2025_65654_MOESM3_ESM.xlsx › Supplementary_Data_4
Fusion Gene Detection in Driver Mutation-Negative Melanomas Using RNA-Based Anchored Multiplex Polymerase Chain Reaction.
Hida T et al.
Pigment Cell & Melanoma Research, 2025
Somatic mutation and selection at population scale.
Lawson ARJ et al.
Nature, 2025
41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM6_ESM.xlsx › clinvar_annotation
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
41126324 (PubMed )
Supplement: 13073_2025_1536_MOESM2_ESM.xlsx › Table_S2
TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup.
Fischer NW et al.
Nature Communications, 2025
41022739 (PubMed )
Supplement: 41467_2025_63528_MOESM7_ESM.xlsx › Sheet1
Diagnostic and prognostic genomic aberrations in upper tract urothelial carcinoma can be identified in focal barbotage samples.
Axelsson TA et al.
Bju International, 2025
39654327 (PubMed )
Supplement: BJU-135-792-s001.xlsx › Sheet1
Relationship between additional mutations at diagnosis and treatment response in patients with essential thrombocythemia.
Mosnier C et al.
Blood Advances, 2025
39820709 (PubMed )
Supplement: BLOODA_ADV-2024-014791-mmc1.pdf
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
39634561 (PubMed )
Supplement: mmc2.xlsx › TableS1
Genetic Characteristics of Cutaneous, Acral, and Mucosal Melanoma in Japan.
Hida T et al.
Cancer Medicine, 2024
39564955 (PubMed )
Supplement: CAM4-13-e70360-s002.xlsx › Sheet1
Hallmarks of a genomically distinct subclass of head and neck cancer.
Muijlwijk T et al.
Nature Communications, 2024
39428388 (PubMed )
Supplement: 41467_2024_53390_MOESM4_ESM.xlsx › 3._List_of_all_somatic_variants
Large-scale analysis of whole genome sequencing data from formalin-fixed paraffin-embedded cancer specimens demonstrates preservation of clinical utility.
Basyuni S et al.
Nature Communications, 2024
39231944 (PubMed )
Supplement: 41467_2024_51577_MOESM13_ESM.xlsx › Oxford_cohort
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
Genetic mutation patterns among glioblastoma patients in the Taiwanese population - insights from a single institution retrospective study.
Huang YF et al.
Cancer Gene Therapy, 2024
Mutations in the TP53, VEGFA, and CTH Genes as Key Molecular Markers for the Diagnosis of Glioblastoma.
Khalil SS et al.
Cureus, 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
38685100 (PubMed )
Supplement: 13046_2024_3045_MOESM2_ESM.xlsx › Patient_p53_mutated_samples
Comparison of TP53 mutations in myelodysplasia and acute leukemia suggests divergent roles in initiation and progression.
Jambhekar A et al.
Blood Neoplasia, 2024
40453522 (PubMed )
Supplement: BNEO_NEO-2023-000115-mmc1.xlsx › AML
Case report: Therapy-related myeloid neoplasms in three pediatric cases with medulloblastoma.
Mak LS et al.
Frontiers in Oncology, 2024
TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.
Zhou Y et al.
Journal of Translational Medicine, 2023
38037073 (PubMed )
Supplement: 12967_2023_4742_MOESM1_ESM.xlsx › Sheet1
Patient-specific targeted analysis of circulating tumour DNA in plasma is feasible and may be a potential biomarker in UTUC.
Mu N et al.
World Journal of Urology, 2023
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
37248814 (PubMed )
Supplement: supplement_1.xlsx › Suppl._Table_6
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
Adult Low-Hypodiploid Acute Lymphoblastic Leukemia Emerges from Preleukemic TP53-Mutant Clonal Hematopoiesis.
Kim R et al.
Blood Cancer Discovery, 2023
36630200 (PubMed )
Supplement: bcd-22-0154_supplementary_tables_s1-s11_suppst1-st11.xlsx › TableS2
Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.
Haefliger S et al.
Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2023
36202073 (PubMed )
Supplement: pat-0090-0166-s01.pdf
The Broad Spectrum of TP53 Mutations in CLL: Evidence of Multiclonality and Novel Mutation Hotspots.
Lazarian G et al.
Human Mutation, 2023
40225169 (PubMed )
Supplement: 4880113.f1.zip › table_S3.xlsx › table_S3
Re: Kara N. Maxwell, Heather H. Cheng, Jacquelyn Powers, et al. Inherited TP53 Variants and Risk of Prostate Cancer. Eur Urol 2022;81:243-50: Off-core Li-Fraumeni Syndrome Spectrum Cancers: Increasing Interest for Prostate Cancer?
Sassi H et al.
European Urology, 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
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TP53
Diffuse large B-cell lymphomas in adults with aberrant coexpression of CD10, BCL6, and MUM1 are enriched in IRF4 rearrangements.
Frauenfeld L et al.
Blood Advances, 2022
34654055 (PubMed )
Supplement: advancesADV2021006034-suppl1.pdf
Clinical and genomic features of Chinese lung cancer patients with germline mutations.
Peng W et al.
Nature Communications, 2022
35273153 (PubMed )
Supplement: 41467_2022_28840_MOESM7_ESM.xlsx › Sheet1
An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.
Lin J et al.
Frontiers in Immunology, 2022
36505399 (PubMed )
Supplement: Table_2.xlsx › vars
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
G V et al.
Frontiers in Genetics, 2022
36561320 (PubMed )
Supplement: Table2.xlsx › TP53
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
34768775 (PubMed )
Supplement: ijms-22-11345-s001.zip › Supplementary_table › Supplementary_table_1.xlsx › Sheet1
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_3.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
Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.
Hoefflin R et al.
Cancers, 2021
33800365 (PubMed )
Supplement: cancers-13-01151-s001.zip › Supplementary_Data_1.xlsx › S_Data_1
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
33889545 (PubMed )
Supplement: Table_12.XLSX › Sheet1
Implementation of clinical sequencing for molecular profiling in patients with advanced cancer.
Fukui T et al.
Cancer Biomarkers : Section a of Disease Markers, 2021
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
Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.
Hendricks A et al.
Cancers, 2020
32046290 (PubMed )
Supplement: cancers-12-00393-s001.zip › cancers-698395-2.revision.supplementary_materials › SuppTables_S1-S7_.xlsx › S5_American_patients_mutations
Latency and interval therapy affect the evolution in metastatic colorectal cancer.
Nikbakht H et al.
Scientific Reports, 2020
31953485 (PubMed )
Supplement: 41598_2020_57476_MOESM5_ESM.xlsx › REACT-014
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