Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1
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_MOESM1_ESM.xlsx › Table_S1
TP53 p.R181H is enriched in the Swedish cohort (SWEP53) and associated with a distinct breast and prostate phenotype.
Sun Zhang A et al.
Scientific Reports, 2025
41057495 (PubMed )
Supplement: 41598_2025_22407_MOESM1_ESM.docx
Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.
Abujamous L et al.
The Oncologist, 2025
40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3
Multigene germline and somatic testing for epithelial ovarian cancer in China.
Li L et al.
Npj Precision Oncology, 2025
40804290 (PubMed )
Supplement: 41698_2025_1074_MOESM1_ESM.pdf
Characterisation of heritable TP53-related cancer syndrome in Sweden-a nationwide study of genotype-phenotype correlations in 90 families.
Omran M et al.
European Journal of Human Genetics : Ejhg, 2025
39757328 (PubMed )
Supplement: 41431_2024_1753_MOESM1_ESM.xlsx › Table_S5
The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.
Torrens L et al.
Nature Genetics, 2025
40164736 (PubMed )
Supplement: 41588_2025_2134_MOESM4_ESM.xlsx › Supplementary_Table_15
Utilizing TP53 hotspot mutations as effective predictors of gemcitabine treatment outcome in non-small-cell lung cancer.
Tseng YH et al.
Cell Death Discovery, 2025
39870629 (PubMed )
Supplement: 41420_2025_2300_MOESM2_ESM.xlsx › Supplement_table_2
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.
Fortuno C et al.
Human Genomics, 2025
39780207 (PubMed )
Supplement: 40246_2024_714_MOESM4_ESM.xlsx › Supplementary_Table_1
Mutations in the TP53, VEGFA, and CTH Genes as Key Molecular Markers for the Diagnosis of Glioblastoma.
Khalil SS et al.
Cureus, 2024
Identification of potentially actionable genetic variants in epithelial ovarian cancer: a retrospective cohort study.
Fieuws C et al.
Npj Precision Oncology, 2024
38519644 (PubMed )
Supplement: 41698_2024_565_MOESM1_ESM.pdf
A Phase II trial of alternating osimertinib and gefitinib therapy in advanced EGFR-T790M positive non-small cell lung cancer: OSCILLATE.
Tan L et al.
Nature Communications, 2024
38418463 (PubMed )
Supplement: 41467_2024_46008_MOESM5_ESM.xlsx › Sheet1
Molecular profiling and feasibility using a comprehensive hybrid capture panel on a consecutive series of non-small-cell lung cancer patients from a single centre.
Mosteiro M et al.
Esmo Open, 2023
38070435 (PubMed )
Supplement: mmc4.xlsx › Small_variants
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_2.xlsx › PVs
Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.
Gao F et al.
Cancer Medicine, 2023
36971051 (PubMed )
Supplement: CAM4-12-10267-s001.xlsx › Sheet1
Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.
Cotto KC et al.
Nature Communications, 2023
36949070 (PubMed )
Supplement: 41467_2023_37266_MOESM8_ESM.xlsx › supplemental_file_6
Metastatic Colorectal Cancer Treatment Response Evaluation by Ultra-Deep Sequencing of Cell-Free DNA and Matched White Blood Cells.
van 't Erve I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
36534496 (PubMed )
Supplement: ccr-22-2538_supplementary_tables_s1-s15_suppts1-ts15.xlsx › ST10
Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.
Bhai P et al.
Frontiers in Oncology, 2023
37483495 (PubMed )
Supplement: Table_2.xlsx › all_patients_lung
Druggable genomic landscapes of high-grade gliomas.
Ghanem P et al.
Frontiers in Medicine, 2023
38143440 (PubMed )
Supplement: Table_1.xlsx › ST5
Liquid Biopsy-Derived DNA Sources as Tools for Comprehensive Mutation Profiling in Multiple Myeloma: A Comparative Study.
Heestermans R et al.
Cancers, 2022
36230824 (PubMed )
Supplement: cancers-14-04901-s001.zip › cancers-1953828-supplementary.xlsx › Suppl_Table_S3
Early identification of disease progression in ALK-rearranged lung cancer using circulating tumor DNA analysis.
Angeles AK et al.
Npj Precision Oncology, 2021
34876698 (PubMed )
Supplement: 41698_2021_239_MOESM1_ESM.pdf
Generation of Non-Small Cell Lung Cancer Patient-Derived Xenografts to Study Intratumor Heterogeneity.
Kanaki Z et al.
Cancers, 2021
34070013 (PubMed )
Supplement: cancers-13-02446-s001.zip › cancers-1192337-supplementary.pdf
Genomic profile of advanced breast cancer in circulating tumour DNA.
Kingston B et al.
Nature Communications, 2021
33893289 (PubMed )
Supplement: 41467_2021_22605_MOESM4_ESM.xlsx › SNVs_Indels
Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.
Gao F et al.
Frontiers in Genetics, 2021
34925435 (PubMed )
Supplement: DataSheet2.xlsx › Sheet1
Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.
Zhang J et al.
Frontiers in Oncology, 2021
35087742 (PubMed )
Supplement: Table_2.xlsx › Sheet1
Functional characterization of novel germline TP53 variants in Swedish families.
Kharaziha P et al.
Clinical Genetics, 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
30886117 (PubMed )
Supplement: supp_mcs.a003921_Supplemental_Table_1a.xlsx › S_Table1a._TP53_in_ClinVar
Detection of TP53 Mutations in Tissue or Liquid Rebiopsies at Progression Identifies ALK+ Lung Cancer Patients with Poor Survival.
Christopoulos P et al.
Cancers, 2019
30669647 (PubMed )
Supplement: cancers-11-00124-s001.pdf
Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.
Clark TA et al.
The Journal of Molecular Diagnostics : Jmd, 2018
29936259 (PubMed )
Supplement: mmc12.xlsx › Table_S12
Pattern of p53 protein expression is predictive for survival in chemoradiotherapy-naive esophageal adenocarcinoma.
Ten Kate FJC et al.
Oncotarget, 2017
29262626 (PubMed )
Supplement: oncotarget-08-104123-s002.xlsx › Sheet1
Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.
Leroy B et al.
Cancer Research, 2017
Germ-line and somatic EPHA2 coding variants in lens aging and cataract.
Bennett TM et al.
Plos One, 2017
29267365 (PubMed )
Supplement: pone.0189881.s008.xlsx › S8a._Cat__1__all
The genomic landscape of TP53 and p53 annotated high grade ovarian serous carcinomas from a defined founder population associated with patient outcome.
Wojnarowicz PM et al.
Plos One, 2012
23029043 (PubMed )
Supplement: pone.0045484.s001.xls › Sample_list
Somatic alterations in the melanoma genome: a high-resolution array-based comparative genomic hybridization study.
Gast A et al.
Genes, Chromosomes & Cancer, 2010
Alternative splicing of p53 and p73: the novel p53 splice variant p53delta is an independent prognostic marker in ovarian cancer.
Hofstetter G et al.
Oncogene, 2010
The dominant TP53 hotspot mutation in IDH -mutant astrocytoma, R273C, has distinctive pathologic features and sex-specific prognostic implications.
Marker DF et al.
Neuro-oncology Advances, 0
35047821 (PubMed )
Supplement: vdab182_suppl_supplementary_table_s1.xlsx › Master
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