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Keywords = therascreen rotor gene Q

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12 pages, 669 KiB  
Article
Comparative Study of NGS Platform Ion Torrent Personal Genome Machine and Therascreen Rotor-Gene Q for the Detection of Somatic Variants in Cancer
by Angela Lombardi, Margherita Russo, Amalia Luce, Floriana Morgillo, Virginia Tirino, Gabriella Misso, Erika Martinelli, Teresa Troiani, Vincenzo Desiderio, Gianpaolo Papaccio, Francesco Iovino, Giuseppe Argenziano, Elvira Moscarella, Pasquale Sperlongano, Gennaro Galizia, Raffaele Addeo, Alois Necas, Andrea Necasova, Fortunato Ciardiello, Andrea Ronchi, Michele Caraglia and Anna Grimaldiadd Show full author list remove Hide full author list
High-Throughput 2020, 9(1), 4; https://doi.org/10.3390/ht9010004 - 11 Feb 2020
Cited by 2 | Viewed by 9171
Abstract
Molecular profiling of a tumor allows the opportunity to design specific therapies which are able to interact only with cancer cells characterized by the accumulation of several genomic aberrations. This study investigates the usefulness of next-generation sequencing (NGS) and mutation-specific analysis methods for [...] Read more.
Molecular profiling of a tumor allows the opportunity to design specific therapies which are able to interact only with cancer cells characterized by the accumulation of several genomic aberrations. This study investigates the usefulness of next-generation sequencing (NGS) and mutation-specific analysis methods for the detection of target genes for current therapies in non-small-cell lung cancer (NSCLC), metastatic colorectal cancer (mCRC), and melanoma patients. We focused our attention on EGFR, BRAF, KRAS, and BRAF genes for NSCLC, melanoma, and mCRC samples, respectively. Our study demonstrated that in about 2% of analyzed cases, the two techniques did not show the same or overlapping results. Two patients affected by mCRC resulted in wild-type (WT) for BRAF and two cases with NSCLC were WT for EGFR according to PGM analysis. In contrast, these samples were mutated for the evaluated genes using the therascreen test on Rotor-Gene Q. In conclusion, our experience suggests that it would be appropriate to confirm the WT status of the genes of interest with a more sensitive analysis method to avoid the presence of a small neoplastic clone and drive the clinician to correct patient monitoring. Full article
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