Associated Papers
Genetic mutations in primary and metastatic tumors of a rare mixed neuroendocrine carcinoma and high-grade serous ovarian cancer.
Wang Q et al.
Medical Molecular Morphology, 2026
Integrative sWGS: A New Paradigm for HRD Detection in Ovarian Cancer.
Jinga DC et al.
International Journal of Molecular Sciences, 2025
Unveiling splicing disruptions due to common somatic variants in acute myeloid leukemia.
Morote-Faubel M et al.
Human Genomics, 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
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
The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.
Torrens L et al.
Nature Genetics, 2025
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.
Fortuno C et al.
Human Genomics, 2025
Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.
Funk JS et al.
Nature Genetics, 2025
RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenic NTRK fusions in a real-world standard-of-care setting.
Wallen ZD et al.
Frontiers in Genetics, 2025
An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.
Szafron LA et al.
International Journal of Molecular Sciences, 2024
Widening the spectrum of players affected by genetic changes in Wilms tumor relapse.
Ciceri S et al.
Iscience, 2024
TP53 mutation screening for patients at risk of myeloid malignancy.
Mukherjee D et al.
Leukemia, 2024
Exome sequencing reveals biallelic inactivation of KMT2C in cutaneous apocrine carcinoma: A case report and review of the literature.
Hirano-Lotman Y et al.
Jaad Case Reports, 2024
Genetic mutation patterns among glioblastoma patients in the Taiwanese population - insights from a single institution retrospective study.
Huang YF et al.
Cancer Gene Therapy, 2024
Mutations in the TP53, VEGFA, and CTH Genes as Key Molecular Markers for the Diagnosis of Glioblastoma.
Khalil SS et al.
Cureus, 2024
Undifferentiated Carcinoma with Osteoclast-like Giant Cells of the Pancreas: Molecular Genetic Analysis of 13 Cases.
Hrudka J et al.
International Journal of Molecular Sciences, 2024
Expanding Broad Molecular Reflex Testing in Non-Small Cell Lung Cancer to Squamous Histology.
Zacharias M et al.
Cancers, 2024
Evaluation of Endobronchial Ultrasound-Guided Transbronchial Needle Aspiration (EBUS-TBNA) Samples from Advanced Non-Small Cell Lung Cancer for Whole Genome, Whole Exome and Comprehensive Panel Sequencing.
Fielding D et al.
Cancers, 2024
TP53 mutation screening for patients at risk of myeloid malignancy.
Mukherjee D et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Li-Fraumeni Syndrome With Six Primary Tumors-Case Report.
Stojiljković D et al.
Case Reports in Oncological Medicine, 2024
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
Digging into the NGS Information from a Large-Scale South European Population with Metastatic/Unresectable Pancreatic Ductal Adenocarcinoma: A Real-World Genomic Depiction.
Ziogas DC et al.
Cancers, 2023
Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome.
Kolodziejczak AS et al.
Neuro-oncology, 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
TP53 germline pathogenic variants in modern humans were likely originated during recent human history.
Kou SH et al.
Nar Cancer, 2023
Clinical Characteristics and Outcomes of Patients with Primary and Secondary Myelofibrosis According to the Genomic Classification Using Targeted Next-Generation Sequencing.
Garrote M et al.
Cancers, 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
Genetic landscape and personalized tracking of tumor mutations in Vietnamese women with breast cancer.
Nguyen Hoang VA et al.
Molecular Oncology, 2023
Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.
Cotto KC et al.
Nature Communications, 2023
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
Adult Low-Hypodiploid Acute Lymphoblastic Leukemia Emerges from Preleukemic TP53-Mutant Clonal Hematopoiesis.
Kim R et al.
Blood Cancer Discovery, 2023
Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.
Bhai P et al.
Frontiers in Oncology, 2023
Correlation Analysis of the TP53 Mutation With Clinical Characteristics in the Prognosis of Non-Small Cell Lung Cancer.
Zhu L et al.
Clinical Medicine Insights. Oncology, 2023
Development of a Novel NGS Methodology for Ultrasensitive Circulating Tumor DNA Detection as a Tool for Early-Stage Breast Cancer Diagnosis.
Jiménez-Rodríguez B et al.
International Journal of Molecular Sciences, 2022
Splicing-Disrupting Mutations in Inherited Predisposition to Solid Pediatric Cancer.
Alba-Pavón P et al.
Cancers, 2022
Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.
Wu H et al.
Cancer Communications (london, England), 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