Droplet digital PCR-based EGFR mutation detection with an internal quality control index to determine the quality of DNA
| Autor: | Seoung Wan Chae, Young-Ho Moon, Jae Seok Lee, Lina Jia, Jae Kyung Won, In Seon Lee, Sarah Park, Soo Youn Cho, Myung Ryurl Oh, Hyun Jeung Choi, Jin Ju Kim, M. Sun Kim, Byung-Ho Nam, Jihun Kim, Jin-Soo Kim, Young Kee Shin, Joon Seok Choi, Bohyun Byun, Byung Soh Min, Yoon-La Choi, Sung-Su Kim |
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| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Oncology medicine.medical_specialty Lung Neoplasms lcsh:Medicine Biology medicine.disease_cause Polymerase Chain Reaction Article 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Internal medicine Carcinoma Non-Small-Cell Lung medicine Carcinoma Biomarkers Tumor Humans Digital polymerase chain reaction lcsh:Science Mutation Multidisciplinary lcsh:R Clinical performance DNA Reference Standards medicine.disease Internal quality ErbB Receptors 030104 developmental biology chemistry Molecular Diagnostic Techniques Egfr mutation 030220 oncology & carcinogenesis lcsh:Q Non small cell |
| Zdroj: | Scientific Reports Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018) |
| ISSN: | 2045-2322 |
| Popis: | In clinical translational research and molecular in vitro diagnostics, a major challenge in the detection of genetic mutations is overcoming artefactual results caused by the low-quality of formalin-fixed paraffin-embedded tissue (FFPET)-derived DNA (FFPET-DNA). Here, we propose the use of an ‘internal quality control (iQC) index’ as a criterion for judging the minimum quality of DNA for PCR-based analyses. In a pre-clinical study comparing the results from droplet digital PCR-based EGFR mutation test (ddEGFR test) and qPCR-based EGFR mutation test (cobas EGFR test), iQC index ≥ 0.5 (iQC copies ≥ 500, using 3.3 ng of FFPET-DNA [1,000 genome equivalents]) was established, indicating that more than half of the input DNA was amplifiable. Using this criterion, we conducted a retrospective comparative clinical study of the ddEGFR and cobas EGFR tests for the detection of EGFR mutations in non-small cell lung cancer (NSCLC) FFPET-DNA samples. Compared with the cobas EGFR test, the ddEGFR test exhibited superior analytical performance and equivalent or higher clinical performance. Furthermore, iQC index is a reliable indicator of the quality of FFPET-DNA and could be used to prevent incorrect diagnoses arising from low-quality samples. |
| Databáze: | OpenAIRE |
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