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4d
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
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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
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TruSight Oncology 500 Assay
14d
A signal-seeking phase 2 study of tremelimumab in advanced cancers with high tumour mutational burden. (PubMed, NPJ Precis Oncol)
Seven tremelimumab-related serious adverse events (grade 2-3) occurred in 5 patients. While the primary PFS6 endpoint was not met, there were two durable objective responses in rare cancers and a favourable change in disease trajectory for an additional five patients based on TTP ratio 1.3.
P2 data • Journal • Tumor mutational burden
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TMB (Tumor Mutational Burden)
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TMB-H
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FoundationOne® CDx • TruSight Oncology 500 Assay • TruSight Tumor 170 Assay
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Imjudo (tremelimumab-actl)
18d
Distinct molecular signatures of upper tract urothelial carcinoma in Southwestern Taiwan: implications for targeted therapy and disease progression. (PubMed, Am J Cancer Res)
Our findings reveal a distinct molecular signature of UTUC in Southwestern Taiwan, with early- and late-stage tumors showing divergent mutational landscapes. These insights emphasize the importance of molecular stratification in UTUC management and suggest that a broader repertoire of targeted therapies could benefit patients in this high-incidence region.
Journal • Tumor mutational burden • BRCA Biomarker
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HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • FGFR3 (Fibroblast growth factor receptor 3)
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TP53 mutation • TMB-H • PIK3CA mutation • HER-2 mutation • FGFR3 mutation
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TruSight Oncology 500 Assay
1m
Multi-Modal Biomarker Profiling of Tumor Microenvironment and Genomic Alterations to Enhance Immunotherapy Stratification in Melanoma. (PubMed, Curr Issues Mol Biol)
Dabrafenib docking to the BRAF ATP site was performed with Glide SP/XP and rescored with Prime MM-GBSA...Single biomarkers are insufficient for diagnosis. A multiparametric framework combining histology, cytokine immunohistochemistry (IHC), and genomic profiling enhances stratification and reveals immune escape pathways, with BRAF modeling providing a mechanistic anchor for the targeted therapy.
Journal • Tumor mutational burden • IO biomarker
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BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • IFNG (Interferon, gamma) • TNFA (Tumor Necrosis Factor-Alpha)
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TMB-H
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TruSight Oncology 500 Assay
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Tafinlar (dabrafenib)
2ms
Clinical significance of concurrent TP53 mutations in KRAS-mutant invasive mucinous adenocarcinoma patients undergoing curative-intent lung surgery. (PubMed, Cancer Treat Res Commun)
Concurrent TP53 mutations have significant prognostic implications in KRAS-mutant IMAs. This finding underscores the potential role of TP53 mutations in guiding personalized treatment approaches to improve patient outcomes.
Journal
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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) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NRG1 (Neuregulin 1)
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TP53 mutation • KRAS mutation
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TruSight Oncology 500 Assay • CancerSCAN
2ms
Calcifying nested stromal-epithelial tumor of the liver: Report of two cases revealing novel WT1 mutation and distinct epigenetic features. (PubMed, Virchows Arch)
Given the metastatic potential and chemotherapy resistance of CNSET, understanding its molecular background is important for potential alternative targeted treatment. Methylation profiling confirms CNSET as a distinct entity, separate from hepatoblastoma and SPN of the pancreas.
Journal
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TERT (Telomerase Reverse Transcriptase) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • WT1 (WT1 Transcription Factor) • NCAM1 (Neural cell adhesion molecule 1)
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TruSight Oncology 500 Assay
2ms
Checkpoint Blockade Combinations in High Tumor Mutational Burden/Load Tumors: Insights from the Atezolizumab + Bevacizumab and Nivolumab + Ipilimumab Cohorts in DRUP. (PubMed, Clin Cancer Res)
Atezo+beva and nivo+ipi showed durable responses in patients with TMB >20, underscoring their tumor-agnostic efficacy in this patient population.
Journal • Checkpoint inhibition • Tumor mutational burden • PD(L)-1 Biomarker
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TMB (Tumor Mutational Burden)
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TMB-H
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TruSight Oncology 500 Assay
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Opdivo (nivolumab) • Avastin (bevacizumab) • Tecentriq (atezolizumab) • Yervoy (ipilimumab)
2ms
Optimization of DNA Fragmentation Techniques to Maximize Coverage Uniformity of Clinically Relevant Genes Using Whole Genome Sequencing. (PubMed, Diagnostics (Basel))
This study introduces a novel framework for evaluating WGS coverage uniformity, providing guidance for optimizing library preparation protocols in clinical and translational research. By quantifying how fragmentation strategies influence coverage depth and variant calling accuracy, laboratories can refine their sequencing workflows to ensure more reliable detection of clinically actionable variants-especially in high-GC regions often implicated in hereditary disease and oncology.
Journal
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TruSight Oncology 500 Assay
3ms
Combination of BRCA deep targeted sequencing and shallow whole genome sequencing to detect homologous recombination deficiency in ovarian cancer. (PubMed, Front Oncol)
Age at diagnosis was not affected by both BRCA and wGI status. HRD Insight assay could accurately and robustly determine the HRD status of ovarian tissue samples, including those with low quality.
Journal • BRCA Biomarker • PARP Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • BRCA (Breast cancer early onset)
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HRD • BRCA wild-type • BRCA mutation
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TruSight Oncology 500 Assay • AmoyDx® HRD Focus Panel • SOPHiA DDM HRD Solution • TruSight Oncology 500 HRD Assay
3ms
Development and Performance Validation of a Comprehensive Liquid Biopsy Genotyping Panel for Pan-cancer Analysis. (PubMed, Ann Lab Med)
Its sensitivity for low-frequency variants enables real-time treatment adaptation, supporting precision oncology. Its comprehensive design is particularly valuable for challenging diagnoses and clonal evolution monitoring.
Journal • Liquid biopsy • Pan tumor
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TruSight Oncology 500 Assay • TruSight Tumor 170 Assay
4ms
Genomic trajectories of colorectal cancer with choroidal metastasis: longitudinal insights from tissue and liquid biopsy via next-generation sequencing. (PubMed, Front Genet)
To our knowledge, this is the first report integrating both tissue- and liquid-based NGS in a CRC case with ocular metastasis. These findings highlight the value of comprehensive genomic monitoring in metastatic CRC and may offer insights into the molecular landscape of rare metastatic sites such as the choroid.
Journal • Liquid biopsy • Next-generation sequencing • Tumor mutational burden
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BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • JAK2 (Janus kinase 2)
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TP53 mutation • BRAF mutation • EGFR amplification • BRAF wild-type
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TruSight Oncology 500 Assay
4ms
Comprehensive genomic profiling of Taiwanese triple-negative breast cancer samples with medium- and large-sized sequencing panels: A comparative study implicating treatment allocations. (PubMed, Biomed Rep)
The large-sized panel detected more variants, thereby enhancing clinical actionability. With more therapeutic targets revealed in the future, CGP may be particularly impactful in refining strategies for TNBC management.
Journal • BRCA Biomarker
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HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • PALB2 (Partner and localizer of BRCA2)
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PALB2 mutation
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TruSight Oncology 500 Assay • Oncomine™ Comprehensive Assay Plus