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4ms
Evaluating Liquid Biopsy for Circulating Tumor DNA (ctDNA) Detection as a Complementary Diagnostic Tool in Thyroid Cancer Among Ecuadorian Women. (PubMed, Int J Mol Sci)
Liquid biopsy demonstrates high concordance with tumor tissue analysis and holds potential as a complementary diagnostic tool for thyroid cancer. However, challenges such as low ctDNA yield and underrepresentation in genetic databases highlight the need for improved protocols and increased inclusion of admixed populations in genomic studies.
Journal • Liquid biopsy • Complementary diagnostic • Circulating tumor DNA
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TP53 (Tumor protein P53)
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TruSight Tumor 15 Assay
12ms
Exploring somatic mutations in BRAF, KRAS, and NRAS as therapeutic targets in Saudi colorectal cancer patients through massive parallel sequencing and variant classification. (PubMed)
Molecular docking demonstrated that Encorafenib inhibits the V600E variant BRAF protein less effectively compared to its wild-type counterpart. Overall, this study highlights the importance of comprehensive molecular screening and bioinformatics in understanding the mutational landscape of CRC in the Saudi population, ultimately improving targeted drug treatments.
Journal
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TruSight Tumor 15 Assay
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Braftovi (encorafenib)
over1year
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
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EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53)
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TruSight Tumor 15 Assay
over1year
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
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EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53)
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cobas® EGFR Mutation Test v2 • TruSight Tumor 15 Assay
over1year
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
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EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53)
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TP53 mutation • KRAS mutation • EGFR mutation • ALK fusion
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TruSight Tumor 15 Assay
over1year
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
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cobas® EGFR Mutation Test v2 • TruSight Tumor 15 Assay
over1year
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
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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)
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TP53 mutation • PIK3CA mutation
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TruSight Tumor 15 Assay
almost2years
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
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KRAS (KRAS proto-oncogene GTPase)
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KRAS mutation • EGFR mutation • PIK3CA mutation • EGFR L858R • KRAS G12D • KRAS G12 • PIK3CA E545
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TruSight Tumor 15 Assay
over2years
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
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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)
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TP53 mutation • KRAS mutation • MSI-H/dMMR • PIK3CA mutation
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TruSight Tumor 15 Assay
over2years
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
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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)
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TruSight Tumor 15 Assay
over2years
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
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EGFR (Epidermal growth factor receptor) • ALK (Anaplastic lymphoma kinase) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS)
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Oncomine™ Comprehensive Assay v3M • TruSight Tumor 15 Assay
over2years
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
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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)
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KRAS mutation
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TruSight Tumor 15 Assay