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3ms
Next-Generation Sequencing Experience of Colorectal Cancer at a Quebec Health Care Centre (USCAP 2024)
Our study is concordant with larger CRC sequencing studies. Although, the main targetable mutations are covered by the Focus Panel, a considerable proportion of specimens had no identifiable mutations. As more treatments become available, more extensive panels are necessary.
Next-generation sequencing
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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) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2)
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KRAS mutation • BRAF mutation • PIK3CA mutation • HER-2 mutation • APC mutation • PMS2 mutation
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Illumina Focus Panel
3ms
Comprehensive genomic characterization of thyroid cancers: real-world implementation and impact on clinical decisions (MHNCS 2024)
In this population, 42% have received standard lenvatinib and 13% have received genotype-matched targeted therapy... In our real-world study, NGS testing revealed high rates of Tier I-II actionable genomic alterations in PTC (77%), MTC (81%), and ATC (31%). NGS-identified BRAF V600E mutations in ATC has a high rate of triggering matched targeted therapy. NGS identification of RET-mutated MTC facilitated use of RET inhibitors.
Real-world evidence • Clinical • Real-world
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RET (Ret Proto-Oncogene) • NTRK (Neurotrophic receptor tyrosine kinase)
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BRAF V600E • BRAF V600 • RET fusion • RET mutation • NTRK fusion
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Illumina Focus Panel
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Lenvima (lenvatinib)
1year
Molecular profiling in a Peruvian population with advanced non-small cell lung cancer assessed by NGS. (ASCO 2023)
Peruvian patients are a population with a high mutation rate, in this cohort almost 50% of them had a target mutation, especially the EGFR mutation. Likewise, it was found that the detection rate of the EGFR mutation was higher with NGS in liquid biopsy than in tissue samples, both in the diagnostic and in the disease progression samples. On the other hand, it is important to mention that the frequency of KRAS mutations found is higher than previous Peruvian reports.
Clinical • Next-generation sequencing • Metastases
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EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase)
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KRAS mutation • EGFR mutation
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Illumina Focus Panel
1year
Role of first-line immune checkpoint inhibitors monotherapy for oncogene-driven non-small cell lung cancer (AACR 2023)
In this study, after excluding NSCLC patients harboring driven oncogenes as EGFR, ALK and ROS1 mutation, twenty NSCLC patents with higher Programmed cell death 1 ligand 1 (PD-L1) expression (PD-L1 ≧ 50%, immunohistochemical stained by SP263 or 22C3) were administered with Pembrolizumab alone as first-line immunotherapy...In conclusion, NGS analysis was recommended even the NSCLC patients with higher PD-L1 expression before immunnotherapy. First-line ICIs monotherapy should be cautious for oncogene-driven NSCLC patients.
Checkpoint inhibition • Clinical • PD(L)-1 Biomarker • IO biomarker
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EGFR (Epidermal growth factor receptor) • PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • NRAS (Neuroblastoma RAS viral oncogene homolog) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • PD-1 (Programmed cell death 1)
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PD-L1 expression • EGFR mutation • ALK mutation • ROS1 mutation
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PD-L1 IHC 22C3 pharmDx • VENTANA PD-L1 (SP263) Assay • Illumina Focus Panel
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Keytruda (pembrolizumab)
almost2years
Molecular characterization of KRAS NSCLC all stages: A single-center cohort (ESMO 2022)
This is necessary in metastatic patients but also in the early stages, taking into account the relationship observed between the subtype and the risk of metastasis. PD-L1 status could be a prognostic factor in KRASm patients, but more investigations are required.
Clinical • PD(L)-1 Biomarker • IO biomarker
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KRAS (KRAS proto-oncogene GTPase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
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PD-L1 expression • KRAS mutation • PD-L1 overexpression • KRAS G12C • PIK3CA mutation • KRAS G12D • KRAS G12V • KRAS G12 • KRAS Q61H
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VENTANA PD-L1 (SP263) Assay • Illumina Focus Panel