Molecular Diagnostics of Oncological Disease: Prospects for the Development of a Reference Material for the HER2 Gene Content

Автор:  Vonsky M., Runov A., Goryachaya T., Koltsova A., Kurchakova E., Nazarov V., Lapin S., Mazing A., Emanuel V.

Год:  2024

The development of oncological pathologies is closely related to various genomic rearrangements. Studies of DNA isolated from a patient’s biological material, as well as identification and determination of the content of nucleotide sequences acting as cancer biomarkers, can be used to determine genetic factors in cancer development, provide early diagnosis, determine a treatment strategy, monitor it, and confirm the patient’s recovery. The study aims to develop the main approaches to the design of DNA reference materials (RMs) on the example of an HER2 RM to provide metrological support for the molecular diagnostics of oncological pathologies. To that end, a procedure was developed for determining HER2 gene copy number via the digital PCR method. The study demonstrated a repeatability of measurements for the results obtained according to the developed procedure and those obtained using an MLPA commercial kit with human biological material samples. Five permanent tissue cultures were characterized in terms of the copy number ratios of HER2 to CEP17 and RPPH1 sequences. A tissue culture with HER2 gene amplification was identified. The obtained results will be used to create an RM for the copy number ratio of HER2 to RPPH1 and CEP17.

Процитировать:

Vonsky, M.S. et al. (2024). Molecular Diagnostics of Oncological Disease: Prospects for the Development of a Reference Material for the HER2 Gene Content. In: Sobina, E.P., et al. Reference Materials in Measurement and Technology . RMMT 2022. Springer, Cham. https://doi.org/10.1007/978-3-031-49200-6_7