Abstract
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.
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Notes
- 1.
World Health Organization. Available via WHO. https://www.who.int/news-room/fact-sheets/detail/cancer. Accessed 14 October 2022 (In Russ.).
- 2.
CCQM-P184 Copy number concentration and fractional abundance of a mutation (SNV: EGFR or INDEL: BRAF) mixed with wild-type DNA. Comparison Coordinator: National Measurement Institute and LGC Standards, UK. Available via BIPM. https://www.bipm.org/documents/20126/61272029/CCQM-P184.pdf/46956277-38bc-0cd8-5ffd-ea4fa67c421b?version=1.1&t=1643100797100. Accessed 14 October 2022 (In Russ.).
- 3.
CUC “Collection of Vertebrate Cell Cultures” Federal State Budgetary Institution of Science Institute of Cytology of the Russian Academy of Sciences. Available via Community Center Collection of Vertebrate Cell Cultures. https://incras-ckp.ru/. Accessed 12 October 2022 (In Russ.).
- 4.
OFS.1.7.2.0031.15 Test for the presence of mycoplasmas. Available via Pharmacopoeia.ru. https://pharmacopoeia.ru/ofs-1-7-2-0031-15-ispytanie-na-prisutstvie-mikoplazm/. Accessed 16 October 2022 (In Russ.).
- 5.
International System of Units (SI). BIPM. Available VNIIM. https://www.vniim.ru/files/SI-2019.pdf. Accessed 10 October 2022 (In Russ.).
Abbreviations
- EGFR:
-
Epidermal growth factor receptor
- ISH:
-
In situ hybridization
- IS WHO:
-
WHO international standards
- MALDI-TOF MS:
-
Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry
- MLPA:
-
Multiplex ligation-dependent probe amplification
- SI:
-
International System of Units
- NGS:
-
Next-generation sequencing
- WHO:
-
World Health Organization
- DNA:
-
Deoxyribonucleic acid
- BIPM:
-
International Bureau of Weights and Measures
- NMI:
-
National metrological metrology institute
- PCR:
-
Polymerase chain reaction
- qPCR:
-
Quantitative polymerase chain reaction
- dPCR:
-
Digital polymerase chain reaction
- ddPCR:
-
Droplet digital polymerase chain reaction
- CCQM-NAWG:
-
Working Group on Nucleic Acid Analysis of the Consultative Committee for Amount of Substance: Metrology in Chemistry and Biology
- RNA:
-
Ribonucleic acid
- RM:
-
Reference material
- CUC:
-
Common Use Center
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Acknowledgements
Cell cultures were provided by the CUC «Vertebrate Cell Culture Collection». The research was supported by the Ministry of Education and Science of the Russian Federation, Agreement № 075-15-2021-683.
Contribution of the Authors
Vonsky M. S.—development of the research concept, data curation, revision and editing of the text; Runov A. L.—research work, validation, verification, writing a draft version of the article; Gorjachaya T. S.—providing materials for research; Koltsova A. M.—providing materials for research; Kurchakova E. V.—research work; Nazarov V. D.—research work; Lapin S. V.—research work; Mazing A. V.—providing materials for research; Emmanuel V. L.—leadership, supervision, control.
Conflict of Interest
The article was prepared on the basis of a report presented at the V International Scientific Conference “Reference materials in measurements and technologies” (Yekaterinburg, September 13–16, 2022). The article was admitted for publication after the abstract was revised, the article was formalized and the review procedure was carried out.
The version in the Russian language is published in the journal “Measurement Standards. Reference Materials” 2023;19(2):5–17. (In Russ.). https://doi.org/10.20915/2077-1177-2023-19-2-5-17.
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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
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