Associated Papers
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
Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.
Handoko et al.
Cancers, 2025
Comprehensive Genomic Profiles of Melanoma in Veterans Compared to Reference Databases.
Mettman D et al.
Federal Practitioner : for the Health Care Professionals of the Va, Dod, and Phs, 2025
Clinical Significance of TP53-Mutant Clonal Hematopoiesis Across Diseases.
Usui Y et al.
Blood Cancer Discovery, 2025
Genetic Alterations, Therapy Response, and Survival Among Patients With Triple-Negative Breast Cancer: A Secondary Analysis of a Randomized Clinical Trial.
Richters L et al.
Jama Network Open, 2025
Personalized screening strategies for TP53 R337H carriers: a retrospective cohort study of tumor spectrum in Li-Fraumeni syndrome adult carriers.
Galante PAF et al.
Lancet Regional Health. Americas, 2025
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.
Fortuno C et al.
Human Genomics, 2025
Repeat Next-Generation Sequencing (15-Gene Panel) in Unifocal, Synchronous, and Metachronous Non-Small-Cell Lung Cancer-A Single-Center Experience.
Kuang S et al.
Current Oncology (toronto, Ont.), 2024
TP53-specific mutations serve as a potential biomarker for homologous recombination deficiency in breast cancer: a clinical next-generation sequencing study.
Huang Y et al.
Precision Clinical Medicine, 2024
Biomarker analysis of the ASPEN study comparing zanubrutinib with ibrutinib for patients with Waldenström macroglobulinemia.
Tam CS et al.
Blood Advances, 2024
Early Cancer Detection in Li-Fraumeni Syndrome with Cell-Free DNA.
Wong D et al.
Cancer Discovery, 2024
Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants.
de Andrade KC et al.
Hgg Advances, 2024
Genomic landscape and tumor mutational features of resected preinvasive to invasive lung adenocarcinoma.
Lin Y et al.
Frontiers in Oncology, 2024
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
Predicting therapeutic responses in head and neck squamous cell carcinoma from TP53 mutation detected by cell-free DNA.
Wei M et al.
Translational Cancer Research, 2023
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
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
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
TP53 germline pathogenic variants in modern humans were likely originated during recent human history.
Kou SH et al.
Nar Cancer, 2023
Combined Tumor-Based BRCA1/2 and TP53 Mutation Testing in Ovarian Cancer.
Borcoman E et al.
International Journal of Molecular Sciences, 2023
Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.
Adamson AW et al.
Journal of Ovarian Research, 2023
Clinical, pathological, and comprehensive molecular analysis of the uterine clear cell carcinoma: a retrospective national study from TMRG and GINECO network.
Nigon E et al.
Journal of Translational Medicine, 2023
Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer.
Lee K et al.
Scientific Reports, 2023
p53 Dysregulation in Breast Cancer: Insights on Mutations in the TP53 Network and p53 Isoform Expression.
Steffens Reinhardt L et al.
International Journal of Molecular Sciences, 2023
Molecular profiling of colorectal cancer in a genetically admixed Hispanic population.
Montes-Rodríguez IM et al.
Cancer Medicine, 2023
Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.
Cotto KC et al.
Nature Communications, 2023
Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.
Bhai P et al.
Frontiers in Oncology, 2023
Enhancing oral squamous cell carcinoma prediction: the prognostic power of the worst pattern of invasion and the limited impact of molecular resection margins.
Hurník P et al.
Frontiers in Oncology, 2023
Compartment-specific mutational landscape of clonal hematopoiesis.
Hartmann L et al.
Leukemia, 2022
Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.
Ghezelayagh TS et al.
Cancer Research Communications, 2022
EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.
Li Z et al.
Bmc Pulmonary Medicine, 2022
Upfront Next Generation Sequencing in Non-Small Cell Lung Cancer.
Kuang S et al.
Current Oncology (toronto, Ont.), 2022
Next-Generation Sequencing in Lung Cancer Patients: A Comparative Approach in NSCLC and SCLC Mutational Landscapes.
Pop-Bica C et al.
Journal of Personalized Medicine, 2022
Association between TP53 mutation and high 21-gene recurrence score in estrogen receptor-positive/HER2-negative breast cancer.
Ji JH et al.
Npj Breast Cancer, 2022
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
Bile is a reliable and valuable source to study cfDNA in biliary tract cancers.
Li Z et al.
Frontiers in Oncology, 2022
Mismatch Repair Deficiency and Somatic Mutations in Human Sinonasal Tumors.
Hieggelke L et al.
Cancers, 2021
Clinical and genetic characteristics of children with acute lymphoblastic leukemia and Li-Fraumeni syndrome.
Winter G et al.
Leukemia, 2021
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Sivapiragasam A et al.
Cancer Medicine, 2021
Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.
Suzuki H et al.
Nature, 2019
Copy number signatures and mutational processes in ovarian carcinoma.
Macintyre G et al.
Nature Genetics, 2018
A Molecularly Annotated Model of Patient-Derived Colon Cancer Stem-Like Cells to Assess Genetic and Nongenetic Mechanisms of Resistance to Anti-EGFR Therapy.
Luraghi P et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018
Pan-urologic cancer genomic subtypes that transcend tissue of origin.
Chen F et al.
Nature Communications, 2017
Optimized p53 immunohistochemistry is an accurate predictor of TP53 mutation in ovarian carcinoma.
Köbel M et al.
The Journal of Pathology. Clinical Research, 2016
The dark matter of the cancer genome: aberrations in regulatory elements, untranslated regions, splice sites, non-coding RNA and synonymous mutations.
Diederichs S et al.
Embo Molecular Medicine, 2016