Clinical application of a cancer genomic profiling assay to guide precision medicine decisions
| Autor: | Joerg Heyer, Ruobai Sun, Maria Lvova, Meaghan Russell, Jennifer E. Ring, Cheryl Eifert, Julie Y. Tse, Alexei Protopopov, Pablo Cingolani, Jia Xu, Stephen Lyle, Angeliki Pantazi |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Genomic profiling analytical validation medicine.disease_cause Bioinformatics Clinical decision support system 03 medical and health sciences 0302 clinical medicine medicine diagnostics Allele next-generation sequencing (NGS) Pharmacology Mutation business.industry Microsatellite instability Cancer General Medicine medicine.disease Precision medicine gene-panels Immune checkpoint 030104 developmental biology 030220 oncology & carcinogenesis precision oncology Molecular Medicine business Research Article |
| Zdroj: | Personalized Medicine |
| ISSN: | 1741-0541 |
| Popis: | Aim: Develop and apply a comprehensive and accurate next-generation sequencing based assay to help clinicians to match oncology patients to therapies. Materials & methods: The performance of the CANCERPLEX® assay was assessed using DNA from well-characterized routine clinical formalin-fixed paraffin-embedded (FFPE) specimens and cell lines. Results: The maximum sensitivity of the assay is 99.5% and its accuracy is virtually 100% for detecting somatic alterations with an allele fraction of as low as 10%. Clinically actionable variants were identified in 93% of patients (930 of 1000) who underwent testing. Conclusion: The test's capacity to determine all of the critical genetic changes, tumor mutation burden, microsatellite instability status and viral associations has important ramifications on clinical decision support strategies, including identification of patients who are likely to benefit from immune checkpoint blockage therapies. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|