Assessment of \(\it MYC\) and \(\it TERT\) copy number variations in lung cancer using digital PCR

  • \(\bf Objective\) Lung cancer is the second most frequent cancer type and the most common cause of cancer-related deaths worldwide. Alteration of gene copy numbers are associated with lung cancer and the determination of copy number variations (CNV) is appropriate for the discrimination between tumor and non-tumor tissue in lung cancer. As telomerase reverse transcriptase (\(\it TERT\)) and v-myc avian myelocytomatosis viral oncogene homolog (\(\it MYC\)) play a role in lung cancer the aims of this study were the verification of our recent results analyzing \(\it MYC\) CNV in tumor and non-tumor tissue of lung cancer patients using an independent study group and the assessment of \(\it TERT\) CNV as an additional marker. \(\bf Results\) \(\it TERT\) and \(\it MYC\) status was analyzed using digital PCR (dPCR) in tumor and adjacent non-tumor tissue samples of 114 lung cancer patients. The difference between tumor and non-tumor samples were statistically significant (p < 0.0001) for \(\it TERT\) and \(\it MYC\). Using a predefined specificity of 99% a sensitivity of 41% and 51% was observed for \(\it TERT\) and \(\it MYC\), respectively. For the combination of \(\it TERT\) and \(\it MYC\) the overall sensitivity increased to 60% at 99% specificity. We demonstrated that a combination of markers increases the performance in comparison to individual markers. Additionally, the determination of CNV using dPCR might be an appropriate tool in precision medicine.

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Author:Alexander BrikGND, Katharina WichertGND, Daniel G. WeberORCiDGND, Katja SzafranskiGND, Peter RozynekGND, Swetlana MeierGND, Yon-Dschun KoORCiDGND, Reinhard BüttnerORCiDGND, Klaus GerwertORCiDGND, Thomas BehrensORCiDGND, Thomas BrüningORCiDGND, Georg JohnenORCiDGND
Parent Title (English):BMC Research notes
Publisher:BioMed Central, Part of Springer Nature
Place of publication:London
Document Type:Article
Date of Publication (online):2024/04/15
Date of first Publication:2023/10/19
Publishing Institution:Ruhr-Universität Bochum, Universitätsbibliothek
Tag:Open Access Fonds
Copy number variations; Diagnosis; Digital polymerase chain reaction; Frozen tissue; Marker combination; Non‑small cell lung cancer
Issue:Artikel 279
First Page:279-1
Last Page:279-7
Article Processing Charge funded by the Deutsche Forschungsgemeinschaft (DFG) and the Open Access Publication Fund of Ruhr-Universität Bochum.
Institutes/Facilities:Institut für Prävention und Arbeitsmedizin der Deutschen Gesetzlichen Unfallversicherung
Dewey Decimal Classification:Technik, Medizin, angewandte Wissenschaften / Medizin, Gesundheit
open_access (DINI-Set):open_access
Licence (English):License LogoCreative Commons - CC BY 4.0 - Attribution 4.0 International