^
    3d
    Polyploid and Chromosomal Copy Number Gain Cells in Metastatic Colon Cancer: Exploratory Genotype-Phenotype Correlations. (PubMed, Cancers (Basel))
    In metastatic colon cancer, the presence of genome-wide copy number gain may delineate a tumor subset with distinctive clinicopathological and molecular characteristics. Further studies are warranted to elucidate the biological significance of these features and to explore their potential implications for tumor evolution, treatment response, and clinical stratification.
    Journal
    |
    HER-2 (Human epidermal growth factor receptor 2) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • SMAD4 (SMAD family member 4)
    |
    TP53 mutation • BRAF mutation • HER-2 amplification • RAS mutation
    |
    TruSight Oncology 500 Assay
    7d
    Combination Therapy (Mirdametinib and Sirolimus) for RAS Mutated Relapsed Refractory Multiple Myeloma (clinicaltrials.gov)
    P1/2, N=54, Suspended, National Cancer Institute (NCI) | Recruiting --> Suspended
    Trial suspension
    |
    KRAS (KRAS proto-oncogene GTPase) • NRAS (Neuroblastoma RAS viral oncogene homolog)
    |
    NRAS mutation
    |
    TruSight Oncology 500 Assay
    |
    Gomekli (mirdametinib) • sirolimus
    1m
    ASPiRATION-2 Liquid: An observational cohort study to assess the impact of longitudinal molecular profiling using circulating tumour DNA (ctDNA) in patients with advanced Non-Small Cell Lung Cancer (NSCLC) after failure of genomically targeted therapy. (ACTRN12626000225314)
    P=N/A, N=500, Not yet recruiting, The University of Sydney
    New trial • Circulating tumor DNA
    |
    EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • MET (MET proto-oncogene, receptor tyrosine kinase) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • NRG1 (Neuregulin 1) • NTRK (Neurotrophic receptor tyrosine kinase)
    |
    EGFR mutation • BRAF mutation • MET exon 14 mutation • RET mutation • ROS1 fusion • NRG1 fusion
    |
    FoundationOne® CDx • TruSight Oncology 500 Assay
    1m
    Concordance Analysis of Microsatellite Instability via NGS and Mismatch Repair Deficiency via IHC in Endometrial and Colorectal Cancer. (PubMed, Target Oncol)
    These findings confirm the lower concordance between MMR-IHC and MSI-NGS in endometrial cancer compared with colorectal cancer when broad panels are used, underscoring the importance of tumor-specific interpretation even within tumor-agnostic assays. Although cut-off optimization improved agreement, the evidence remains insufficient for clinical implementation, and further validation studies are needed.
    Journal • Next-generation sequencing • Mismatch repair • Microsatellite instability
    |
    MSI (Microsatellite instability) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    |
    TruSight Oncology 500 Assay
    1m
    Exploratory biomarkers for oxaliplatin-induced nivolumab responsiveness in metastatic microsatellite-stable colorectal cancer. (PubMed, Br J Cancer)
    TMB, somatic BRAF status and systemic inflammation should be prospectively investigated as practical biomarkers for predicting potential responsiveness to immune checkpoint inhibitors in metastatic microsatellite-stable/mismatch repair-proficient colorectal cancer.
    Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
    |
    BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • CRP (C-reactive protein)
    |
    BRAF V600E
    |
    TruSight Oncology 500 Assay
    |
    Opdivo (nivolumab) • oxaliplatin
    1m
    Precision Oncology Clinical Diagnostic Study In Primary and Metastatic Breast Cancer (PRISM) (clinicaltrials.gov)
    P=N/A, N=1600, Recruiting, Cancer Trials Ireland
    New trial • Tumor mutational burden
    |
    TruSight Oncology 500 Assay
    2ms
    Analytical and clinical validation of CancerMaster, an automated targeted NGS panel, for tumor-only precision oncology. (PubMed, Sci Rep)
    Furthermore, directly comparing with the TruSight Oncology 500 (TSO500) panel, CancerMaster demonstrated high concordance while uniquely identifying certain clinically relevant alterations, including an ERBB2 missense mutation. Hence, the CancerMaster panel demonstrated high analytical performance and strong clinical potential for supporting clinical decisions regarding personalized cancer treatment.
    Journal • Next-generation sequencing • Tumor mutational burden
    |
    HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability)
    |
    TP53 mutation • KRAS mutation • HER-2 amplification • PIK3CA mutation • HER-2 mutation
    |
    TruSight Oncology 500 Assay
    2ms
    Clinical outcomes of genomically guided trametinib monotherapy across cancer types: results from the IMPRESS-Norway trial. (PubMed, Acta Oncol)
    Trametinib monotherapy achieved a 39% DCR in patients lacking standard options, supporting further studies to confirm efficacy and identify predictive biomarkers for treatment response.
    Clinical data • Journal
    |
    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • NF1 (Neurofibromin 1) • GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
    |
    BRAF mutation • BRAF V600 • BRAF fusion
    |
    TruSight Oncology 500 Assay
    |
    Mekinist (trametinib)
    2ms
    Prospective tumour mutation burden and neoantigen profiling predicts immunotherapy response in metastatic melanoma. (PubMed, NPJ Precis Oncol)
    Mutations in NF1 and ROS1 that produce a neoantigen were also linked to improved outcomes. These results support the reproducibility of TMB estimation and highlight the added value of neoantigen profiling in predicting immunotherapy benefits in melanoma.
    Journal • Tumor mutational burden • IO biomarker
    |
    BRAF (B-raf proto-oncogene) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • HRAS (Harvey rat sarcoma viral oncogene homolog) • NF1 (Neurofibromin 1)
    |
    TMB-H • BRAF mutation • PIK3CA mutation • HRAS mutation
    |
    FoundationOne® CDx • TruSight Oncology 500 Assay
    2ms
    Endoscopic ultrasound molecular evaluation of pancreatic cancer trial to profile molecular landscape of inoperable pancreatic ductal adenocarcinoma. (PubMed, Endosc Int Open)
    This real-world study confirms the feasibility and utility of CGP using EUS-FNB in advanced PDAC. It illustrates the importance of timely access to personalized therapy informed by CGP, which can impact the treatment pathway and improve survival outcomes.
    Journal
    |
    TruSight Oncology 500 Assay
    3ms
    Supplementary biomarker testing in molecular tumor boards increases actionable therapy recommendations: a prospective real-world study of 658 patients. (PubMed, BMC Med)
    The integration of additional biomarker assessments into MTB workflows enhances precision oncology by expanding the pool of patients eligible for targeted therapies.
    Journal • Real-world evidence • Tumor mutational burden • BRCA Biomarker • PARP Biomarker • PD(L)-1 Biomarker • IO biomarker • Biomarker testings
    |
    HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • HRD (Homologous Recombination Deficiency) • FOLR1 ( Folate receptor alpha ) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2) • NECTIN4 (Nectin Cell Adhesion Molecule 4) • TACSTD2 (Tumor Associated Calcium Signal Transducer 2)
    |
    HER-2 amplification • HRD • PALB2 mutation • CHEK2 mutation
    |
    TruSight Oncology 500 Assay
    3ms
    Diagnostic whole transcriptome sequencing in a series of 1233 FFPE solid tumor samples. (PubMed, Br J Cancer)
    WTS is a reliable and informative method for fusion and splice variant detection in clinical diagnostics, provided rigorous pre-analytical and sequencing QC metrics are strictly applied.
    Journal
    |
    TruSight Oncology 500 Assay • FusionPlex® Dx