Associated Papers
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
Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.
Brown JR et al.
Blood, 2026
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
Primary Uterine Angiosarcoma Presenting With Omental Metastasis, Lymph Node Involvement, and Demonstrating a Null p53 Mutational Staining Pattern.
Rattin J et al.
International Journal of Surgical Pathology, 2025
TP53 Alterations Are Associated With Poor Response to Lenvatinib in Patients With Advanced Thyroid Cancer.
Cirello V et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Deciphering lung adenocarcinoma evolution and the role of LINE-1 retrotransposition.
Zhang T et al.
Biorxiv : the Preprint Server for Biology, 2025
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.
Fortuno C et al.
Human Genomics, 2025
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
The Impact of Li-Fraumeni and Germline Retinoblastoma Mutations on Leiomyosarcoma Initiation, Outcomes, and Genetic Testing Recommendations.
Dermawan JK et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.
Wang S et al.
Journal of Cellular and Molecular Medicine, 2024
Biomarker analysis of the ASPEN study comparing zanubrutinib with ibrutinib for patients with Waldenström macroglobulinemia.
Tam CS et al.
Blood Advances, 2024
TP53 germline pathogenic variants in modern humans were likely originated during recent human history.
Kou SH et al.
Nar Cancer, 2023
Phosphorylated nuclear DICER1 promotes open chromatin state and lineage plasticity of AT2 tumor cells in lung adenocarcinomas.
Reyes-Castro RA et al.
Science Advances, 2023
Supratentorial Sporadic Hemangioblastoma: A Case Report With Mutation Profiling Using Next-Generation DNA Sequencing.
Taher MM et al.
Cureus, 2023
Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.
Cotto KC et al.
Nature Communications, 2023
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
Upfront Next Generation Sequencing in Non-Small Cell Lung Cancer.
Kuang S et al.
Current Oncology (toronto, Ont.), 2022
Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.
Klonowska K et al.
The Journal of Clinical Investigation, 2022
Clinical Impact of Prospective Whole Genome Sequencing in Sarcoma Patients.
Schipper LJ et al.
Cancers, 2022
Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.
Aoyagi Y et al.
Plos One, 2022
Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.
Shen F et al.
Frontiers in Oncology, 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
Genetic testing and prognosis of sarcomatoid hepatocellular carcinoma patients.
Jia B et al.
Frontiers in Oncology, 2022
Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.
Bruscaggin A et al.
Blood Advances, 2021
TP53 Combined Phenotype Score Is Associated with the Clinical Outcome of TP53-Mutated Myelodysplastic Syndromes.
Yabe M et al.
Cancers, 2021
Next-Generation Sequencing-Directed Therapy in Patients with Metastatic Breast Cancer in Routine Clinical Practice.
Bruzas S et al.
Cancers, 2021
Mutation Profiling of Intracranial Myxopapillary Ependymoma by Next Generation DNA Sequencing.
Taher MM et al.
The Gulf Journal of Oncology, 2021
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Popp B et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.
Li Z et al.
Clinical and Translational Medicine, 2020
Oncogenic driver mutations predict outcome in a cohort of head and neck squamous cell carcinoma (HNSCC) patients within a clinical trial.
Fernández-Mateos J et al.
Scientific Reports, 2020
Somatic mutations and copy number variations in breast cancers with heterogeneous HER2 amplification.
Van Bockstal MR et al.
Molecular Oncology, 2020
Monitoring treatment efficacy and resistance in breast cancer patients via circulating tumor DNA genomic profiling.
Chen Z et al.
Molecular Genetics & Genomic Medicine, 2020
Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.
Woodhouse R et al.
Plos One, 2020
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
Characterization of frequently mutated cancer genes in Chinese breast tumors: a comparison of Chinese and TCGA cohorts.
Zhang G et al.
Annals of Translational Medicine, 2019
Copy number signatures and mutational processes in ovarian carcinoma.
Macintyre G et al.
Nature Genetics, 2018
A system for detecting high impact-low frequency mutations in primary tumors and metastases.
Anjanappa M et al.
Oncogene, 2018
Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.
Chalmers ZR et al.
Genome Medicine, 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
Landscape of somatic mutations in 560 breast cancer whole-genome sequences.
Nik-Zainal S et al.
Nature, 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
Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency.
Kovac M et al.
Nature Communications, 2015
Role of p53 in the progression of gastric cancer.
Busuttil RA et al.
Oncotarget, 2014
Identification of novel mutations of TP53, ALK and RET gene in metastatic thymic squamous cell carcinoma and its therapeutic implication.
Hu Z et al.
Lung Cancer (amsterdam, Netherlands), 2013
Tissue microarray cytometry reveals positive impact of homeodomain interacting protein kinase 2 in colon cancer survival irrespective of p53 function.
Soubeyran I et al.
The American Journal of Pathology, 2011
Multiplex amplification coupled with COLD-PCR and high resolution melting enables identification of low-abundance mutations in cancer samples with low DNA content.
Milbury CA et al.
The Journal of Molecular Diagnostics : Jmd, 2011