Associated Papers
Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.
Can ND et al.
Human Genomics, 2026
41656315 (PubMed )
Supplement: 40246_2026_915_MOESM2_ESM.xlsx › PVs
PRIME: an interpretable artificial intelligence model based on liquid biopsy improves prediction of progression risk in non-small cell lung cancer.
Wang Y et al.
Military Medical Research, 2026
41491583 (PubMed )
Supplement: 40779_2025_679_MOESM1_ESM.xlsx › Table_S9
Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.
Breen KE et al.
Npj Precision Oncology, 2025
41258420 (PubMed )
Supplement: 41698_2025_1155_MOESM2_ESM.xlsx › Table_S4-Somatic_Variants
Comparison of Somatic Mutations in Primary Squamous Cell Carcinomas of the Hypopharynx and the Esophagus Developed in Individual Patients.
Matsui H et al.
Head & Neck, 2025
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 Sequence Revealed the Prevalence and Biological Significance of Somatic Pathogenic Variants in Thoracic Cancer: Implications for Germline Status.
Fukushima T et al.
Clinical Lung Cancer, 2025
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
Clinical classification and molecular interpretation of germline pathogenic TP53 variations detected by multigene panel testing in patients with possible cancer predisposition.
Onder G et al.
Molecular Genetics and Genomics : Mgg, 2025
Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.
Kamdee K et al.
Scientific Reports, 2025
40181060 (PubMed )
Supplement: 41598_2025_95834_MOESM2_ESM.xlsx › S._Data_4.
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
Clinical utility and predictive value of cerebrospinal fluid cell-free DNA profiling in non-small cell lung cancer patients with leptomeningeal metastasis.
Liang SK et al.
Neoplasia (new York, N.y.), 2025
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
Detection of clinically relevant variants in the TP53 gene below 10% allelic frequency: A multicenter study by ERIC, the European Research Initiative on CLL.
Pavlova S et al.
Hemasphere, 2025
Exploring Genomic Biomarkers for Pembrolizumab Response: A Real-World Approach and Patient Similarity Network Analysis Reveal DNA Response and Repair Gene Mutations as a Signature.
Filetti M et al.
Cancers, 2024
39682144 (PubMed )
Supplement: cancers-16-03955-s001.zip › Table_S4.xlsx › Table_S4
Whole genome sequencing elucidates etiological differences in MCPyV-negative Merkel cell carcinoma.
Stephan C et al.
Pathology, Research and Practice, 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
Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.
Fasching PA et al.
Npj Breast Cancer, 2024
39003306 (PubMed )
Supplement: 41523_2024_667_MOESM1_ESM.pdf
Outcome heterogeneity of TP53-mutated myeloid neoplasms and the role of allogeneic hematopoietic cell transplantation.
Pasca S et al.
Haematologica, 2024
37731390 (PubMed )
Supplement: 2023_283886_PASCA_SUPPL.pdf
Genomic profiling of NSCLC tumors with the TruSight oncology 500 assay provides broad coverage of clinically actionable genomic alterations and detection of known and novel associations between genomic alterations, TMB, and PD-L1.
Wallen ZD et al.
Frontiers in Oncology, 2024
39664186 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2
ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.
Zhou Y et al.
Science Advances, 2023
37992168 (PubMed )
Supplement: sciadv.adg2263_tables_s1_to_s5.zip › adg2263_Table_S1.xlsx › Genomic_data
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
Single-cell multi-omics identifies chronic inflammation as a driver of TP53-mutant leukemic evolution.
Rodriguez-Meira A et al.
Nature Genetics, 2023
37666991 (PubMed )
Supplement: 41588_2023_1480_MOESM3_ESM.xlsx › TableS6._Primers
Homologous recombination deficiency derived from whole-genome sequencing predicts platinum response in triple-negative breast cancers.
Ter Brugge P et al.
Nature Communications, 2023
37029129 (PubMed )
Supplement: 41467_2023_37537_MOESM4_ESM.xlsx › Feuil1
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
The High Expression of p53 Is Predictive of Poor Survival Rather TP53 Mutation in Esophageal Squamous Cell Carcinoma.
Jin Y et al.
Journal of Oncology, 2023
Tubulovillous adenoma with high-grade dysplasia of the vulva harboring high tumor mutational burden and cancer-associated mutations: a case report.
Sato H et al.
Diagnostic Pathology, 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
Upfront Next Generation Sequencing in Non-Small Cell Lung Cancer.
Kuang S et al.
Current Oncology (toronto, Ont.), 2022
35877212 (PubMed )
Supplement: curroncol-29-00352-s001.zip › LUNGS1_16_june_2022_supplemental_2_variants_no_code.pdf
Alternative RNA splicing defects in pediatric cancers: new insights in tumorigenesis and potential therapeutic vulnerabilities.
Venkataramany AS et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2022
Comparative Genomic Analysis Reveals Genetic Variations in Multiple Primary Esophageal Squamous Cell Carcinoma of Chinese Population.
Liang J et al.
Frontiers in Oncology, 2022
35515115 (PubMed )
Supplement: Table_3.xlsx › Sheet_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-suppl1.xlsx › Table_S6
Long term follow-up of a phase II study of cladribine with concurrent rituximab with hairy cell leukemia variant.
Chihara D et al.
Blood Advances, 2021
Mismatch Repair Deficiency and Somatic Mutations in Human Sinonasal Tumors.
Hieggelke L et al.
Cancers, 2021
34885191 (PubMed )
Supplement: cancers-13-06081-s001.zip › Table_S3_Targeted_panel_sequencing_result_of_sinonasal_tumor_cohort.pdf
Pan-cancer landscape of CD274 (PD-L1) rearrangements in 283,050 patient samples, its correlation with PD-L1 protein expression, and immunotherapy response.
Kelly AD et al.
Journal for Immunotherapy of Cancer, 2021
34815356 (PubMed )
Supplement: jitc-2021-003550supp001.pdf
Profile of esophageal squamous cell carcinoma mutations in Brazilian patients.
Munari FF et al.
Scientific Reports, 2021
34663841 (PubMed )
Supplement: 41598_2021_208_MOESM1_ESM.xlsx › Supp.T1
CDKN2A loss-of-function predicts immunotherapy resistance in non-small cell lung cancer.
Gutiontov SI et al.
Scientific Reports, 2021
34625620 (PubMed )
Supplement: 41598_2021_99524_MOESM2_ESM.xlsx › Mutations
Comparative analysis of nuclear and mitochondrial DNA from tissue and liquid biopsies of colorectal cancer patients.
Haupts A et al.
Scientific Reports, 2021
Characteristics of Li-Fraumeni Syndrome in Japan; A Review Study by the Special Committee of JSHT.
Funato M et al.
Cancer Science, 2021
Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.
Romero-Cordoba SL et al.
Nature Communications, 2021
33854067 (PubMed )
Supplement: 41467_2021_22478_MOESM9_ESM.xlsx › Driver_mutation_in_HM
A comprehensive analysis of somatic alterations in Chinese ovarian cancer patients.
Zhang Y et al.
Scientific Reports, 2021
33432021 (PubMed )
Supplement: 41598_2020_79694_MOESM2_ESM.xlsx › Sheet1
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