Copy Number Variation and Rearrangements Assessment in Cancer: Comparison of Droplet Digital PCR with the Current Approaches
| Autor: | Vincenza Ylenia Cusenza, Alessandra Bisagni, Monia Rinaldini, Raffaele Frazzi, Chiara Cattani |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
DNA Copy Number Variations
Oncogene Proteins Fusion QH301-705.5 Endpoint Determination Computational biology Review Biology Molecular oncology Polymerase Chain Reaction Sensitivity and Specificity Catalysis droplet digital PCR Inorganic Chemistry FISH Neoplasms copy number variation assessment medicine Humans Digital polymerase chain reaction Multiplex Fluorometry Multiplex ligation-dependent probe amplification Copy-number variation Physical and Theoretical Chemistry Biology (General) Molecular Biology QD1-999 Spectroscopy In Situ Hybridization Fluorescence Chromosome Aberrations Gene Rearrangement Digital Technology medicine.diagnostic_test business.industry Organic Chemistry Cancer General Medicine DNA Neoplasm medicine.disease Computer Science Applications Neoplasm Proteins MLPA Chemistry Emulsions Personalized medicine business Multiplex Polymerase Chain Reaction Fluorescence in situ hybridization |
| Zdroj: | International Journal of Molecular Sciences International Journal of Molecular Sciences, Vol 22, Iss 4732, p 4732 (2021) |
| ISSN: | 1422-0067 |
| Popis: | The cytogenetic and molecular assessment of deletions, amplifications and rearrangements are key aspects in the diagnosis and therapy of cancer. Not only the initial evaluation and classification of the disease, but also the follow-up of the tumor rely on these laboratory approaches. The therapeutic choice can be guided by the results of the laboratory testing. Genetic deletions and/or amplifications directly affect the susceptibility or the resistance to specific therapies. In an era of personalized medicine, the correct and reliable molecular characterization of the disease, also during the therapeutic path, acquires a pivotal role. Molecular assays like multiplex ligation-dependent probe amplification and droplet digital PCR represent exceptional tools for a sensitive and reliable detection of genetic alterations and deserve a role in molecular oncology. In this manuscript we provide a technical comparison of these two approaches with the golden standard represented by fluorescence in situ hybridization. We also describe some relevant targets currently evaluated with these techniques in solid and hematologic tumors. |
| Databáze: | OpenAIRE |
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