^
    3ms
    Repeat Next-Generation Sequencing (15-Gene Panel) in Unifocal, Synchronous, and Metachronous Non-Small-Cell Lung Cancer-A Single-Center Experience. (PubMed, Curr Oncol)
    These changes may reflect separate primary lung carcinomas, tumor heterogeneity among intrapulmonary metastases, and clonal evolution. NGS testing of multiple tumors may enhance the identification of therapeutic targets for treatment decisions.
    Journal • Next-generation sequencing
    |
    EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53)
    |
    TruSight Tumor 15 Assay
    4ms
    The Advantage of Targeted Next-Generation Sequencing over qPCR in Testing for Druggable EGFR Variants in Non-Small-Cell Lung Cancer. (PubMed, Int J Mol Sci)
    Additionally, we observed TP53 to be a frequently co-mutated gene in EGFR-positive NSCLC patients. In conclusion, targeted NGS showed a number of superior features over qPCR in EGFR variant detection (exact identification of variants, calculation of allelic frequency, high analytical sensitivity), which might enhance the basic diagnostic report.
    Journal • Next-generation sequencing
    |
    EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53)
    |
    cobas® EGFR Mutation Test v2 • TruSight Tumor 15 Assay
    4ms
    A Landscape of the Driver Alterations in 920 Brazilian Lung Cancer Patients. (IASLC-WCLC 2024)
    Co-occurrence of TP53 and EGFR mutations suggested an unfavorable prognosis for TKi-treated patients. Our results reinforce the importance of molecular characterization in ethnic admixed NSCLC patients.
    Clinical
    |
    EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53)
    |
    TP53 mutation • KRAS mutation • EGFR mutation • ALK fusion
    |
    TruSight Tumor 15 Assay
    6ms
    Improved detection of druggable EGFR variants in non-small cell lung cancer using targeted next-generation sequencing (ERS 2024)
    NGS showed a number of superior features over qPCR in EGFR variant detection (exact identification of variants, calculation of allelic frequency, high analytical sensitivity) which might enhance the basic diagnostic report.
    Next-generation sequencing
    |
    cobas® EGFR Mutation Test v2 • TruSight Tumor 15 Assay
    6ms
    Somatic mutational profiling and clinical impact of driver genes in Latin-Iberian medulloblastomas: Towards precision medicine. (PubMed, Neuropathology)
    Latin-Iberian medulloblastomas, particularly the MBSHH, exhibit higher mutation frequencies than other populations. We corroborate the TP53 mutation status as an important prognostic factor, while PIK3CA and KIT are potential therapeutic targets.
    Journal
    |
    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)
    |
    TP53 mutation • PIK3CA mutation
    |
    TruSight Tumor 15 Assay
    9ms
    Use of Streck nucleic acid BCT with plasma nucleic acid next-generation sequencing workflows (AACR 2024)
    Our data demonstrate that Nucleic Acid BCT maintains mutant allele frequencies and the plasma transcriptome profile of blood samples during ambient temperature storage. This provides precious sample integrity during whole blood storage and transport, offering laboratories and assay developers reduced preanalytical variability for NGS-based analysis of gene mutations, fusions, indels, and the plasma transcriptome. Nucleic Acid BCT is for Research Use Only.
    Next-generation sequencing
    |
    KRAS (KRAS proto-oncogene GTPase)
    |
    KRAS mutation • EGFR mutation • PIK3CA mutation • EGFR L858R • KRAS G12D • KRAS G12 • PIK3CA E545
    |
    TruSight Tumor 15 Assay
    over1year
    Application of Next-Generation Sequencing Tests for Cancer Treatment to Guide Oncologists in Pakistan (AMP Europe 2023)
    Our current study consists of small data with limited targeting of prognostic and actionable markers in solid tumors to predict the targeted therapy and characterize tumors. NGS testing is changing the paradigm for molecular testing in these patients; with time, it should be possible to apply NGS to routine diagnostics. More research is needed to establish the clinical usefulness of these tests and develop evidence-based clinical guidelines for their use in practice.
    Next-generation sequencing • MSi-H Biomarker
    |
    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MSI (Microsatellite instability)
    |
    TP53 mutation • KRAS mutation • MSI-H/dMMR • PIK3CA mutation
    |
    TruSight Tumor 15 Assay
    over1year
    Association of acrochordons and colorectal polyps: A pilot study to identify potential genetic or viral etiology (ESMO-GI 2023)
    In this small cohort of patients, no associations between acrochordons and colorectal polyps in terms of viral or genetic etiology were identified. An extensive investigation of several other predictors for colonic polyps may be valuable in detecting early carcinogenesis. These could help for future guidance in building effective screening programs, which is critical in preventing unnecessary patient morbidity and mortality.
    Clinical
    |
    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11) • FOXL2 (Forkhead Box L2)
    |
    TruSight Tumor 15 Assay
    over1year
    Impact on turnaround times (TAT) among non-squamous non-small cell lung cancer (NSCLC) patients across three time periods with varying biomarker testing techniques. (ASCO 2023)
    As more comprehensive biomarker testing became available, more AGAs are identified with an increase in TAT from biopsy to sign-out and treatment start. Despite our institutional policy of reflex testing, future endeavours will be focus on ways to reduce TAT. >
    Clinical • Biomarker testing
    |
    EGFR (Epidermal growth factor receptor) • ALK (Anaplastic lymphoma kinase) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS)
    |
    Oncomine™ Comprehensive Assay v3M • TruSight Tumor 15 Assay
    over1year
    Somatic mutation detection and KRAS amplification in testicular germ cell tumors. (PubMed, Front Oncol)
    Variants were also detected in genes such as KIT, KRAS, PDGFRA, EGFR, BRAF, RET, NRAS, PIK3CA, MET, and ERBB2, with some of them potentially targetable. Although larger studies incorporating collaborative networks may shed the light on the molecular landscape of TGCT, our findings unveal the potential of actionable variants in clinical management for applying targeted therapies.
    Journal
    |
    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)
    |
    KRAS mutation
    |
    TruSight Tumor 15 Assay
    almost2years
    KRAS codon 12 mutations characterize a subset of de novo proliferating "metaplastic" Warthin tumors. (PubMed, Virchows Arch)
    Our findings are in line with a neoplastic nature of the epidermoid/ mucoepidermoid proliferations in non-injured "metaplastic" Warthin tumors. We propose the descriptive term "de novo proliferating Warthin tumor" for this variant to distinguish it from infarcted/inflamed genuine metaplastic Warthin tumor.
    Journal
    |
    KRAS (KRAS proto-oncogene GTPase)
    |
    KRAS mutation
    |
    TruSight Tumor 15 Assay
    almost2years
    Mutational Profile of Never-Smoker Patients With Lung Adenocarcinoma From a Single-Center in Brazil (LALCA 2023)
    We identified that about 80% of Brazilian never-smoker patients with lung adenocarcinoma harbor at least one driver alteration, and most of these patients could be benefited by targeted-therapy treatments.
    Clinical
    |
    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • GNAQ (G Protein Subunit Alpha Q) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • GNA11 (G Protein Subunit Alpha 11) • FOXL2 (Forkhead Box L2)
    |
    TP53 mutation • KRAS mutation • EGFR mutation • BRAF mutation • ALK translocation • AKT1 mutation
    |
    TruSight Tumor 15 Assay
    almost2years
    Uveal Melanoma Cytology Specimens with Equivocal Clinical Presentation: Triage for Diagnosis and Molecular Assay (USCAP 2023)
    For clinically equivocal uveal melanocytic lesions, a triage system provided a means to diagnosis and sufficient molecular yield in majority of cases.
    Clinical • Cytology
    |
    BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • GNAQ (G Protein Subunit Alpha Q) • SF3B1 (Splicing Factor 3b Subunit 1) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11)
    |
    TruSight Tumor 15 Assay
    2years
    DETECTION OF BRAFV600E MUTATION ON AN ECUADORIAN PATIENT SELF‐IDENTIFIED AS MESTIZO DIAGNOSED WITH PAPILLARY THYROID CARCINOMA USING NEXT‐GENERATION SEQUENCING: A CASE REPORT (ATA 2022)
    Our results are consistent with other series. Data on more patients are needed to characterize our population better.
    Clinical • Next-generation sequencing
    |
    BRAF (B-raf proto-oncogene)
    |
    BRAF V600E • BRAF V600
    |
    TruSight Tumor 15 Assay
    over2years
    Evolution of biomarker testing among non-squamous/non-small cell lung cancer (NSCLC) patients (Pts) and impact on turnaround times (TAT) (ESMO 2022)
    The TAT of larger comprehensive versus smaller NGS panels appears similar. The impact on patient treatment will be updated for ESMO 2022.
    Clinical • Biomarker testing
    |
    EGFR (Epidermal growth factor receptor) • ALK (Anaplastic lymphoma kinase) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS)
    |
    Oncomine™ Comprehensive Assay v3M • TruSight Tumor 15 Assay
    over2years
    Upfront Next Generation Sequencing in Non-Small Cell Lung Cancer. (PubMed, Curr Oncol)
    Reflex upfront NGS identified at least one actionable variant in more than 70% of patients with NSCLC, with minimal increase in testing cost. Implementation of NGS panels remains essential as treatment paradigms continue to evolve.
    Journal • Next-generation sequencing
    |
    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • GNAQ (G Protein Subunit Alpha Q) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • GNA11 (G Protein Subunit Alpha 11) • FOXL2 (Forkhead Box L2)
    |
    KRAS mutation • EGFR mutation • BRAF mutation • AKT1 mutation
    |
    TruSight Tumor 15 Assay
    over2years
    Co-occurring Mutations, Smoking Status and Prognosis of Early-stage Resected NSCLCs with EGFR Mutations (IASLC-WCLC 2022)
    In this cohort, co-mutation rates in early-EGFRm NSCLC were not significantly different by smoking status. Numerically, never-smokers with co-mutations had worse overall survival than patients with only EGFRm NSCLC. Co-mutations in early-EGFRm NSCLC may negatively influence survival outcomes, similar to accumulated evidence in late-stage EGFRm NSCLC.
    EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53)
    |
    TP53 mutation • KRAS mutation • EGFR mutation • BRAF mutation • EGFR L858R • EGFR exon 19 deletion • KRAS deletion
    |
    TruSight Tumor 15 Assay
    over2years
    Implementation of Next-Generation Sequencing in Saudi Arabia for HER2-Positive Breast Cancer. (PubMed, Saudi J Biol Sci)
    Our results recommend that patients with HER2 positive breast cancer in Saudi Arabia have a high mutational burden, which may be related to trastuzumab resistance. We expect that in the future, targeting these mutations will be a promising therapeutic method for the treatment of breast cancer.
    Journal • Tumor mutational burden • Next-generation sequencing
    |
    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • MET (MET proto-oncogene, receptor tyrosine kinase) • KIT (KIT proto-oncogene, receptor tyrosine kinase)
    |
    HER-2 positive • KRAS mutation • EGFR mutation • TMB-H • BRAF mutation • HER-2 mutation • HER-2 expression
    |
    TruSight Tumor 15 Assay
    |
    Herceptin (trastuzumab)
    over3years
    [VIRTUAL] Clinicopathological and Genetic Ancestry Impact of TP53 Mutations in Brazilian Lung Adenocarcinoma Patients (IASLC-WCLC 2021)
    Conclusion TP53 mutations are present in 59.0% in Brazilian lung adenocarcinoma patients. TP53 mutations are associated with younger patients, quitter and current smokers, patients with African genetic ancestry background.
    Clinical
    |
    EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53)
    |
    TP53 mutation • EGFR mutation
    |
    TruSight Tumor 15 Assay
    over3years
    [VIRTUAL] EGFR Mutational Status and PD - L1 in Early - Stage Brazilian Non - Small - Cell Lung Cancer (IASLC-WCLC 2021)
    Conclusion The frequency of EGFR mutations was 17.3% and PD-L1 positivity was 36.7 in early-stage non-squamous NSCLC patients from Brazil. These resectable patients EGFRm or PD-L1-positive could be eligible for adjuvant tailored treatment.
    PD(L)-1 Biomarker • IO biomarker
    |
    EGFR (Epidermal growth factor receptor) • PD-L1 (Programmed death ligand 1)
    |
    PD-L1 expression • EGFR mutation • PD-L1 overexpression • PD-L1 negative
    |
    PD-L1 IHC 22C3 pharmDx • cobas® EGFR Mutation Test v2 • TruSight Tumor 15 Assay