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Khirurgii

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Year 2023 Vol. 31 No 2

SCIENTIFIC PUBLICATIONS

N.A. KARPUK 1, S.P. RUBNIKOVICH 2, I.V. ZHYLTSOU 1, O.C. MAZUR 3, I.YU. KARPUK 1, A.P. MIKHALENKA3

SOMATIC MUTATIONS IN ORAL SQUAMOUS CELL CARCINOMAS

Vitebsk State Medical University 1, Vitebsk,
Belorusian State Medical University 2, Republic of Belarus
Institute of Genetics and Cytology of the Belorusian National Academy of Sciences, Laboratory of Environmental Genetics and Biotechnology 3, Minsk,
Republic of Belarus

Objective. The number of cases of oral squamous cell carcinoma (OSCC) is increasing annually all over the world. At the same time, the prediction of the development and early diagnosis of OSCC are consided to be the most important health problems. By using high throughput DNA sequencing (DNA-seq) technologies, it is possible to identify genetic variants that play a role in human health.
Methods. The samples (n=48) of altered oral mucosal epithelium of patients with oral mucosal leukoplakia (n=24) and oral squamous cell carcinomas (n=24) were the material for the study. The QIAamp DNA FFPE Tissue Kit (Qiagen, Germany) was used to isolate DNA from the samples. DNA sequencing was performed with Illumina NextSeq 550 sequencer and TruSight™ Oncology 500 DNA Kit, For Use with NextSeq (Illumina, USA). All operations for DNA extraction from biological samples, preparation of DNA libraries, and sequencing were performed step by step in strict accordance with the instructions supplied with the reagent kits. The bioinformatic analysis was performed by an experienced professional using Illumina BaseSpace and Galaxy Project specialized software and in accordance with current guidelines.
Results. Identified pathogenic and probably pathogenic variants in ERCC3, HOXB13, KRAS, MSH3, MSH6, PIK3CA, and TP53 genes are associated with a high probability (RR 90-22000) of oral squamous cell carcinomas development.
Conclusion. This information allows working out PCR and NGS test systems for predicting the development and early diagnosis of oral squamous cell carcinomas.

Keywords: DNA sequencing, somatic mutations, oral squamous cell carcinomas
p. 137-145 of the original issue
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Address for correspondence:
210009, Republic of Belarus,
Vitebsk, Frunze Ave., 27,
Vitebsk State Medical University,
tel.: +375-29-596-10-83,
e-mail: ms.karpuk@mail.ru,
Karpuk Natalia A.
Information about the authors:
Karpuk Natalia A., PhD, Associate Professor, Associate Professor of the Department of General and Orthopedic Dentistry with the Course of FAT and RP Vitebsk State Medical University, Vitebsk, Republic of Belarus.
http://orcid.org/0000-0001-9991-7034
Rubnikovich Sergey P. Corresponding Member of NASB, MD, Professor, Rector of Belarusian State Medical University, Minsk, Republic of Belarus.
http://orcid.org/0000-0002-7450-3757
Zhyltsou Ivan V, MD, Professor, Head of the Department of Evidence-Based Medicine and Clinical Diagnostics of the Faculty of Advanced Training and Retraining of Vitebsk State Medical University, Vitebsk, Republic of Belarus.
http://orcid.org/0000-0002-4912-2880
Mazur Oksana C., Researcher, Laboratory of Environmental Genetics and Biotechnology, Institute of Genetics and Cytology of the National Academy of Sciences of Belarus, Minsk, Belarus
http://orcid.org/0000-0002-6093-4548
Karpuk Ivan Yu., MD, Dean of the Faculty of Dentistry, Professor of the Department of General Dentistry with the Course of Prosthodontic Dentistry of. Vitebsk State Medical University, Vitebsk, Republic of Belarus.
http://orcid.org/0000-0001-9991-7035
Mikhalenka Alena P., PhD (Biol.), Senior Researcher, Laboratory of Environmental Genetics and Biotechnology, Institute of Genetics and Cytology of the National Academy of Sciences of Belarus , Minsk, Belarus.
http://orcid.org/0000-0003-4543-2862.
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