^
    7d
    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
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    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)
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    HER-2 amplification • HRD • PALB2 mutation • CHEK2 mutation
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    TruSight Oncology 500 Assay
    7d
    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
    8d
    A Synthetic Lethality-Focused Algorithm to Identify Therapeutic Options in Advanced Metastatic Breast Cancer (SYNTHESIS-Breast) (clinicaltrials.gov)
    P=N/A, N=175, Recruiting, National Cancer Institute (NCI) | Not yet recruiting --> Recruiting
    Enrollment open • Tumor mutational burden • IO biomarker
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    HER-2 (Human epidermal growth factor receptor 2)
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    TruSight Oncology 500 Assay
    9d
    Leveraging tumor multigene panel testing to identify germline variants in gynecologic cancers: A retrospective evaluation of an algorithm-based approach. (PubMed, Gynecol Oncol)
    A conservative (specificity-focused) tumor-guided algorithm demonstrated high positive predictive value for identifying germline pathogenic variants and may provide a cost-effective means of prioritizing genetic counselling and germline testing in resource-limited settings.
    Retrospective data • Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D)
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    RAD51D mutation
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    TruSight Oncology 500 Assay
    11d
    Molecular Characterization of Adult-Type Lower-Grade Glioma (WHO Grade 1-3) with Targeted Next-Generation Sequencing: A Retrospective, Single-Institution Experience. (PubMed, J Clin Med)
    Despite the exploratory nature of the analysis on a small population, the study underscores the biological and transcriptional heterogeneity of LGGs and highlights the limitations of tumor-only sequencing approaches. Broader genomic profiling and matched normal controls are warranted to refine the interpretation of rare or non-canonical variants.
    Retrospective data • Journal • Next-generation sequencing
    |
    EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • MET (MET proto-oncogene, receptor tyrosine kinase) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • MYCN (MYCN Proto-Oncogene BHLH Transcription Factor) • CDK4 (Cyclin-dependent kinase 4) • ATRX (ATRX Chromatin Remodeler)
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    TP53 mutation • IDH1 mutation • MET amplification • EGFR amplification • MYCN amplification • IDH wild-type
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    TruSight Oncology 500 Assay
    22d
    A Complex Case of Retinoblastoma Solved by the Combined Approach of Humor/Plasma cfDNA-NGS and LR-WGS. (PubMed, Genes (Basel))
    This experience tells us that a combined approach with TSO500 Illumina NGS on cfDNA, along with LR-WGS, is able to help solve complex cases and define the appropriate treatment and surveillance strategy.
    Journal • Next-generation sequencing • BRCA Biomarker
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    ALK (Anaplastic lymphoma kinase) • BRCA2 (Breast cancer 2, early onset) • RB1 (RB Transcriptional Corepressor 1) • MDM4 (The mouse double minute 4)
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    TruSight Oncology 500 Assay
    23d
    Molecular determinants of outcome to gemcitabine, cisplatin, and nab-paclitaxel in patients with advanced biliary tract cancer. (PubMed, Clin Mol Hepatol)
    Similar results were obtained in the independent validation cohort treated with GAP (N=103) or GC (N=64) for BTC. Genomic profiling using next-generation sequencing identified PI3K pathway activation as key molecular determinant that differentiates patient outcomes between GAP and GC treatments in advanced BTC.
    Journal
    |
    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • SMAD4 (SMAD family member 4) • TNFRSF14 (TNF Receptor Superfamily Member 14)
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    TruSight Oncology 500 Assay
    |
    cisplatin • gemcitabine • albumin-bound paclitaxel
    1m
    Development and Clinical Validation of OncCNV: A Pipeline for Comprehensive Genome-Wide Analysis of Oncogene Amplifications, Homozygous Deletions, and Biallelic Inactivation of Tumor Suppressor Genes Using the TSO500 Kit. (PubMed, J Mol Diagn)
    Sensitivity for HMZ-Del and BI detection decreased to 62-70% at tumor content 20-39% in in silico dilution experiments; however, intra- and inter-run and inter-analyst precision remained >99%. OncCNV extends the analytical capabilities of TSO500 by enabling robust, precise, and accurate detection of GAMP, HMZ-Del, and BI events, enhancing solid tumors comprehensive molecular profiling.
    Journal
    |
    TruSight Oncology 500 Assay
    1m
    Clinicopathological and genomic profiling in undifferentiated pleomorphic sarcoma: Small series, clear message. (PubMed, J Appl Genet)
    All tumours demonstrated a low tumour mutation burden (TMB) (1.6-3.9 mut/Mb) and no microsatellite instability (MSI), explaining no sensitivity to immune checkpoint inhibitors. NGS assays may enable accurate diagnosis and identify predictive biomarkers and novel therapeutic targets - of particular importance in poor-prognosis entities such as UPS. Our report is consistent with the literature classifying UPS as malignancy with a high frequency of CNAs and low TBM.
    Journal • Tumor mutational burden • IO biomarker
    |
    TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • FGFR1 (Fibroblast growth factor receptor 1) • CCND1 (Cyclin D1) • CCNE1 (Cyclin E1)
    |
    TMB-L
    |
    TruSight Oncology 500 Assay
    1m
    Comprehensive molecular profiling of urologic tumors presented in a molecular tumor board: insights from a real-world precision oncology cohort. (PubMed, Front Oncol)
    Comprehensive molecular profiling in a MTB setting reveals distinct and therapeutically relevant mutational patterns across urologic cancers. These data support the integration of MTBs into clinical workflows and highlight the potential of co-mutational signatures to guide personalized treatment strategies.
    Journal • Real-world evidence • Tumor mutational burden • BRCA Biomarker • PARP Biomarker
    |
    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PBRM1 (Polybromo 1) • KMT2D (Lysine Methyltransferase 2D) • LRP1B (LDL Receptor Related Protein 1B) • KMT2C (Lysine Methyltransferase 2C) • APC (APC Regulator Of WNT Signaling Pathway) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • PARP1 (Poly(ADP-Ribose) Polymerase 1) • SPTA1 (Spectrin Alpha) • SFTPA1 (Surfactant Protein A1)
    |
    TP53 mutation
    |
    TruSight Oncology 500 Assay
    1m
    Genomic copy number burden distinguishes the diagnosis and prognosis of primary dermal melanoma. (PubMed, Br J Dermatol)
    We found that CNVs were the strongest discriminative features between PDMs and non-epidermal cutaneous metastases, with large-scale and focal CNVs abundant in metastases but not in PDMs. Notably, integrating BRAF copy number analysis with standard clinical criteria for diagnosing PDMs improved risk stratification after surgery. These data highlight the ability of panel-based genomic sequencing that enables detection of CNVs to inform clinical management of melanoma.
    Journal
    |
    BRAF (B-raf proto-oncogene)
    |
    TruSight Oncology 500 Assay
    2ms
    Isocitrate Dehydrogenase-Mutant WHO Grade 4 Astrocytoma with BCOR Alteration: Case Report. (PubMed, Case Rep Oncol)
    This case represents the first report of a BCOR ITD in an IDH-mutant WHO grade 4 astrocytoma. The discovery expands the molecular spectrum of high-grade astrocytomas and highlights the need for further research into the biological, prognostic, and therapeutic significance of BCOR alterations in these tumors.
    Journal
    |
    EGFR (Epidermal growth factor receptor) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • ATRX (ATRX Chromatin Remodeler) • BCOR (BCL6 Corepressor)
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    EGFR mutation • IDH1 mutation
    |
    TruSight Oncology 500 Assay