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
Single-cell profiling reveals reprogrammed hierarchy and disrupted immune-stromal ecosystem in TP53-mutated AML.
Qiu G et al.
Experimental Hematology & Oncology, 2026
41634865 (PubMed )
Supplement: 40164_2026_751_MOESM3_ESM.xlsx › Sheet1
Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.
Nakata E et al.
Cancer Science, 2026
41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1
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_17
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
Clinical Significance of TP53-Mutant Clonal Hematopoiesis Across Diseases.
Usui Y et al.
Blood Cancer Discovery, 2025
40525786 (PubMed )
Supplement: bcd-24-0355_table_s2_suppst2.xlsx › Sheet1
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3
Does paired genetic testing improve targeted therapy choices and screening recommendations for patients with upper gastrointestinal cancers and their families? A prospective cohort of 42 patients.
Tatunay K et al.
Bmj Open, 2025
DICER1 Mutational Spectrum in Intracranial CNS-Neoplasias-A Review and a Report from the CNS-InterREST GPOH Study Center.
Manea S et al.
Cancers, 2025
40361440 (PubMed )
Supplement: cancers-17-01513-s001.zip › cancers-3488083-supplementary.xlsx › Blatt_1_-_Tabelle_1
Longitudinal multimodal profiling of IDH-wildtype glioblastoma reveals the molecular evolution and cellular phenotypes underlying prognostically different treatment responses.
Lucas CG et al.
Neuro-oncology, 2025
39560080 (PubMed )
Supplement: noae214_suppl_supplementary_tables.xlsx › Table_S5
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.
Fortuno C et al.
Human Genomics, 2025
Li-Fraumeni-associated osteosarcomas: The French experience.
Saucier E et al.
Pediatric Blood & Cancer, 2024
Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.
López Rivera JJ et al.
Journal of Personalized Medicine, 2024
39338229 (PubMed )
Supplement: jpm-14-00975-s001.zip › SUPPLEMENTARY_DATA.xlsx › Table_S2
Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.
Pinheiro M et al.
Nature Communications, 2024
39266536 (PubMed )
Supplement: 41467_2024_51713_MOESM5_ESM.xlsx › Data_2
Genomic characterization and risk stratification of esophageal squamous dysplasia.
Min Q et al.
Medical Review (2021), 2024
38919397 (PubMed )
Supplement: j_mr-2024-0008_suppl_010.pdf
Biomarker analysis of the ASPEN study comparing zanubrutinib with ibrutinib for patients with Waldenström macroglobulinemia.
Tam CS et al.
Blood Advances, 2024
38315878 (PubMed )
Supplement: BLOODA_ADV-2023-010906-mmc1.pdf
Mutation detection in saliva from oral cancer patients.
Ahmed AA et al.
Oral Oncology, 2024
Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.
Haugh AM et al.
Cancers, 2024
38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1
The spectrum of TP53 mutations in Rwandan patients with gastric cancer.
Nzitakera A et al.
Genes and Environment : the Official Journal of the Japanese Environmental Mutagen Society, 2024
Circulating tumour mutation detection in triple-negative breast cancer as an adjunct to tissue response assessment.
Zaikova E et al.
Npj Breast Cancer, 2024
38182588 (PubMed )
Supplement: 41523_2023_607_MOESM1_ESM.pdf
Genomic landscape and tumor mutational features of resected preinvasive to invasive lung adenocarcinoma.
Lin Y et al.
Frontiers in Oncology, 2024
38803537 (PubMed )
Supplement: Table_1.xlsx › Table_S4
Intragenic EGFR::EGFR.E1E8 Fusion (EGFRvIII) in 4331 Solid Tumors.
Zheng L et al.
Cancers, 2023
38201434 (PubMed )
Supplement: cancers-16-00006-s001.zip › cancers-2545478-supplementary.pdf
Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.
Rosenberg S et al.
Molecular Oncology, 2023
36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2b._All_genes
TP53 germline pathogenic variants in modern humans were likely originated during recent human history.
Kou SH et al.
Nar Cancer, 2023
Supratentorial Sporadic Hemangioblastoma: A Case Report With Mutation Profiling Using Next-Generation DNA Sequencing.
Taher MM et al.
Cureus, 2023
Molecular profiling of colorectal cancer in a genetically admixed Hispanic population.
Montes-Rodríguez IM et al.
Cancer Medicine, 2023
37039257 (PubMed )
Supplement: CAM4-12-11686-s002.xlsx › Top_mutated_genes
Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.
Kage H et al.
Cancer Science, 2023
36601953 (PubMed )
Supplement: CAS-114-1710-s001.xlsx › Sup_Table_3
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
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
Advanced lung adenocarcinoma (LUAD) patient with EGFR mutations benefited from multiline combination targeted therapies after osimertinib (AZD9291) resistance: a case report.
Chen J et al.
Translational Cancer Research, 2022
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST3_Known_Somatic_Variants
Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers.
Shukla N et al.
Nature Communications, 2022
35585047 (PubMed )
Supplement: 41467_2022_30233_MOESM7_ESM.xlsx › Supplementary_Data_4
Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.
Omura T et al.
Cancers, 2022
35626060 (PubMed )
Supplement: cancers-14-02454-s001.zip › cancers-1674301-SI.xlsx › gene_aberrations
Clinical Impact of Prospective Whole Genome Sequencing in Sarcoma Patients.
Schipper LJ et al.
Cancers, 2022
Investigating the genomic alteration improved the clinical outcome of aged patients with lung carcinoma.
Chen S et al.
Bmc Genomics, 2022
35031014 (PubMed )
Supplement: 12864_2021_8289_MOESM1_ESM.xlsx › Table_S1
Proof-of-Concept Pilot Study on Comprehensive Spatiotemporal Intra-Patient Heterogeneity for Colorectal Cancer With Liver Metastasis.
Kyrochristos ID et al.
Frontiers in Oncology, 2022
35402285 (PubMed )
Supplement: Table_1.xlsx › Patient_plots
TP53 Mutations Identified Using NGS Comprise the Overwhelming Majority of TP53 Disruptions in CLL: Results From a Multicentre Study.
Catherwood MA et al.
Frontiers in Oncology, 2022
35837095 (PubMed )
Supplement: Table_1.xlsx › Table_1
Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.
Sun D et al.
Frontiers in Oncology, 2022
36425562 (PubMed )
Supplement: Table_3.xlsx › Sheet1
Low-burden TP53 mutations in CLL: clinical impact and clonal evolution within the context of different treatment options.
Malcikova J et al.
Blood, 2021
33945616 (PubMed )
Supplement: 10.1182-2020009530_bloodbld2020009530-suppl3.xlsx › Table_S13
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