The technical challenges of validating an NGS oncological diagnostic targeted assay for clinical grade accuracy and sensitivity for patient care are presented and how copy number alterations provide a more comprehensive description of the tumors genomic profile are shown.
Screening tumor types for which a first-line, integrated DNA-RNA NGS strategy provides a valuable advantage for rapid therapeutic decisions demonstrates that integrated DNA-RNA high-throughput NGS enables timely, precise molecular profiling for personalized therapy in solid tumors.
A. Destro, Federica Panebianco, Cecília Durães et al.· Virchows Archiv· 0 citations
Triple-negative breast cancer (TNBC) is characterized by aggressive behaviour, high tumor heterogeneity, and an increased likelihood of recurrence and early metastasis. These factors hinder successful treatment. Genetic diagnosis enables personalized clinical recommendations and treatment options. The objective of this...
D. Alzate, A. Y. Sánchez, Yovana Pacheco et al.· PLoS ONE· 0 citations
The value of genomic profiling in advanced solid tumors using whole-exome, whole-transcriptome sequencing (WES/WTS) in comparison to 50-gene panels is evaluated to identify potential matched therapies, thereby informing clinical decision-making and potentially improving outcomes for more patients.
J. De La O, David W Hall, Jess R. Hoag et al.· Scientific Reports· 0 citations
Analysis of circulating tumor-DNA (ctDNA) provides a molecular assessment that can complement routine imaging in childhood cancer management. Detailed monitoring of ctDNA levels may provide information on treatment efficacy and resistance, minimal residual disease and allows for early detection of relapse. Here, tumor-...
T. Österlund, Daniel Andersson, Raghda R. Ibrahim et al.· Journal of Molecular Diagnos...· 0 citations
Routine genomic profiling in NSCLC provides clinically relevant information beyond actionable driver detection when interpreted together with stage, smoking history, age, sex, and regional molecular context, and support a more context-aware interpretation of routine molecular diagnostics in thoracic oncology.
N. Karlowatz, L. Kohn, C. Patthey et al.· Frontiers in Oncology· 0 citations
The findings support implementing testing for use of a safe, inexpensive repurposed drug and underscore the importance of upfront testing for timely treatment decision-making and implementation of trial findings into routine practice.
L. Kerrin, Osamah Al Haddad, Ellen Reid et al.· Frontiers in Oncology· 0 citations
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