<?xml version="1.0" encoding="UTF-8"?>
<!DOCTYPE root>
<article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xmlns:ali="http://www.niso.org/schemas/ali/1.0/" article-type="research-article" dtd-version="1.2" xml:lang="en"><front><journal-meta><journal-id journal-id-type="publisher-id">Russian Journal of Genetics</journal-id><journal-title-group><journal-title xml:lang="en">Russian Journal of Genetics</journal-title><trans-title-group xml:lang="ru"><trans-title>Генетика</trans-title></trans-title-group></journal-title-group><issn publication-format="print">0016-6758</issn><issn publication-format="electronic">3034-5103</issn><publisher><publisher-name xml:lang="en">The Russian Academy of Sciences</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="publisher-id">667266</article-id><article-id pub-id-type="doi">10.31857/S0016675824050053</article-id><article-id pub-id-type="edn">CJMKTT</article-id><article-categories><subj-group subj-group-type="toc-heading"><subject>ГЕНЕТИКА ЧЕЛОВЕКА</subject></subj-group><subj-group subj-group-type="article-type"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title xml:lang="en">Comparative Analysis of Mutation in the Buccal Epithelium and Blood in Patients with Lung Cancer and Healthy People</article-title><trans-title-group xml:lang="ru"><trans-title>Сравнительный анализ мутаций в буккальном эпителии и крови у пациентов с раком легких и здоровых людей</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Serzhantova</surname><given-names>O. V.</given-names></name><name xml:lang="ru"><surname>Сержантова</surname><given-names>О. В.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>gureev@bio.vsu.ru</email><xref ref-type="aff" rid="aff1"/><xref ref-type="aff" rid="aff2"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Novikova</surname><given-names>A. G.</given-names></name><name xml:lang="ru"><surname>Новикова</surname><given-names>А. Г.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>gureev@bio.vsu.ru</email><xref ref-type="aff" rid="aff1"/><xref ref-type="aff" rid="aff2"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Mikhailov</surname><given-names>A. A.</given-names></name><name xml:lang="ru"><surname>Михайлов</surname><given-names>А. А.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>gureev@bio.vsu.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Moshurov</surname><given-names>I. P.</given-names></name><name xml:lang="ru"><surname>Мошуров</surname><given-names>И. П.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>gureev@bio.vsu.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Gureev</surname><given-names>A. P.</given-names></name><name xml:lang="ru"><surname>Гуреев</surname><given-names>А. П.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>gureev@bio.vsu.ru</email><xref ref-type="aff" rid="aff2"/></contrib></contrib-group><aff-alternatives id="aff1"><aff><institution xml:lang="en">Voronezh Regional Clinical Oncological Dispensary</institution></aff><aff><institution xml:lang="ru">Воронежский областной клинический онкологический диспансер</institution></aff></aff-alternatives><aff-alternatives id="aff2"><aff><institution xml:lang="en">Voronezh State University</institution></aff><aff><institution xml:lang="ru">Воронежский государственный университет</institution></aff></aff-alternatives><pub-date date-type="pub" iso-8601-date="2024-05-15" publication-format="electronic"><day>15</day><month>05</month><year>2024</year></pub-date><volume>60</volume><issue>5</issue><fpage>66</fpage><lpage>82</lpage><history><date date-type="received" iso-8601-date="2025-02-26"><day>26</day><month>02</month><year>2025</year></date></history><permissions><copyright-statement xml:lang="en">Copyright ©; 2024, Russian Academy of Sciences</copyright-statement><copyright-statement xml:lang="ru">Copyright ©; 2024, Российская академия наук</copyright-statement><copyright-year>2024</copyright-year><copyright-holder xml:lang="en">Russian Academy of Sciences</copyright-holder><copyright-holder xml:lang="ru">Российская академия наук</copyright-holder></permissions><self-uri xlink:href="https://transsyst.ru/0016-6758/article/view/667266">https://transsyst.ru/0016-6758/article/view/667266</self-uri><abstract xml:lang="en"><p>Lung cancer is one of the leading causes of cancer death. Finding new methods for the early and accurate diagnosis of lung cancer is critical for effective treatment. We have shown that patients with lung cancer have more mutations in the <italic>FLT3</italic>, <italic>PDGFRA</italic>, <italic>KDR</italic>, <italic>PIK3CA</italic>, <italic>HRAS</italic>, <italic>FGFR3</italic> genes in the buccal epithelium than people without diagnosed lung cancer. Thus, study of molecular alterations may be used as a method for the accurate diagnosis of lung cancer in the early stages of investigational procedure.</p></abstract><trans-abstract xml:lang="ru"><p>Рак легких является одной из основных причин смерти от рака. Поиск новых методов ранней и точной диагностики рака легких имеет решающее значение для эффективного лечения. Мы показали, что у пациентов с раком легких в буккальном эпителии больше мутаций в генах <italic>FLT</italic><italic>3</italic>, <italic>PDGFRA</italic>, <italic>KDR</italic>, <italic>PIK</italic><italic>3</italic><italic>CA</italic>, <italic>HRAS</italic>, <italic>FGFR</italic><italic>3</italic>, чем у людей без диагностированного рака легких. Таким образом, изучение молекулярных изменений может быть использовано как метод точной диагностики рака легких на ранних стадиях исследования.</p></trans-abstract><kwd-group xml:lang="en"><kwd>lung cancer</kwd><kwd>sequencin</kwd><kwd>buccal epithelium</kwd><kwd>mutation profile</kwd><kwd>gene</kwd></kwd-group><kwd-group xml:lang="ru"><kwd>рак легкого</kwd><kwd>секвенирование</kwd><kwd>буккальный эпителий</kwd><kwd>мутационный профиль</kwd><kwd>ген</kwd></kwd-group><funding-group><award-group><funding-source><institution-wrap><institution xml:lang="ru">Министерство науки и высшего образования Российской Федерации</institution></institution-wrap><institution-wrap><institution xml:lang="en">Ministry of Science and Higher Education of the Russian Federation</institution></institution-wrap></funding-source><award-id>FZGU-2020-0044</award-id></award-group></funding-group></article-meta></front><body></body><back><ref-list><ref id="B1"><label>1.</label><mixed-citation>Каприн А.Д., Старинский В.В., Шахзадова А.О. Злокачественные новообразования в России в 2019 году (заболеваемость и смертность). М.: МНИОИ им. П.А. Герцена − филиал ФГБУ “НМИЦ радиологии” Минздрава России 2020. 252 с.</mixed-citation></ref><ref id="B2"><label>2.</label><mixed-citation>Wadowska K., Bil-Lula I., Trembecki Ł., Śliwińska-Mossoń M. Genetic Markers in Lung Cancer Diagnosis: A Review // Int. J. Mol. Sci. 2020. V. 21. № 13. https://doi.org/10.3390/ijms21134569</mixed-citation></ref><ref id="B3"><label>3.</label><mixed-citation>Rodionov E.O., Tuzikov S.A., Miller S.V. et al. Methods for early detection of lung cancer (review) // Sib. J. Oncology. 2020. V. 19. № 4. P. 112–122. https://doi.org/10.21294/1814-4861-2020-19-4-112-122</mixed-citation></ref><ref id="B4"><label>4.</label><mixed-citation>Nanavaty P., Alvarez M.S., Alberts W.M. Lung cancer screening: advantages, controversies, and applications // Cancer Control. 2014. V. 21. № 1. P. 9–14. https://doi.org/10.1177/107327481402100102</mixed-citation></ref><ref id="B5"><label>5.</label><mixed-citation>Hubers A.J., Prinsen C.F., Sozzi G. et al. Molecular sputum analysis for the diagnosis of lung cancer // Br. J. Cancer. 2013. V. 109. № 3. P. 530–537. https://doi.org/10.1038/bjc.2013.393</mixed-citation></ref><ref id="B6"><label>6.</label><mixed-citation>Ganeev A.A., Gubal A.R., Lukyano G.N. et al. Analysis of exhaled air for early-stage diagnosis of lung cancer: opportunities and challenges // Russ. Chemical Reviews. 2017. V. 87. № 9. P. 904–921. https://doi.org/10.1070/RCR4831</mixed-citation></ref><ref id="B7"><label>7.</label><mixed-citation>Sidransky D. The oral cavity as a molecular mirror of lung carcinogenesis // Cancer Prev. Res. (Phila). 2008 V. 1. № 1. P. 12–14. https://doi.org/10.1158/1940-6207.CAPR-08-0093</mixed-citation></ref><ref id="B8"><label>8.</label><mixed-citation>Bhutani N., Burns D.M., Blay H.M. DNA Demethylation dynamics // Cell. 2011. V.146. № 6. P. 866–872. https://doi.org/10.1016/j.cell.2011.08.042</mixed-citation></ref><ref id="B9"><label>9.</label><mixed-citation>Kömerik N., Yüce E., Calapoğlu N.S. et al. Oral mucosa and lung cancer: Are genetic changes in the oral epithelium associated with lung cancer? // Nigerian J. Clin. Practice. 2017. V. 20. № 1. P. 12–18. https://doi.org/10.4103/1119-3077.181396</mixed-citation></ref><ref id="B10"><label>10.</label><mixed-citation>Shtivelman E., Hensing T., Simon G.R. et al. Molecular pathways and therapeutic targets in lung cancer // Oncotarget. 2014. V. 5. № 6. P. 1392–1433. https://doi.org/10.18632/oncotarget.1891</mixed-citation></ref><ref id="B11"><label>11.</label><mixed-citation>Collisson E.A., Campbell J.D., Brooks A.N. et al. The Cancer Genome Atlas Research Network. Comprehensive molecular profiling of lung adenocarcinoma // Nature. 2014. V. 511. P. 543–550. https://doi.org/10.1038/nature13385</mixed-citation></ref><ref id="B12"><label>12.</label><mixed-citation>Imielinski M., Berger A.H., Hammerman P.S. et al. Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing // Cell. 2012. V. 150. № 6. P. 1107–1120. https://doi.org/10.1016/j.cell.2012.08.029</mixed-citation></ref><ref id="B13"><label>13.</label><mixed-citation>Rodgers K. Cancer Genome Atlas Research Network. Comprehensive molecular profiling of lung adenocarcinoma // Nature. 2018. V. 559. № 7715. https://doi.org/10.1038/s41586018-0228-6</mixed-citation></ref><ref id="B14"><label>14.</label><mixed-citation>Levy M.A., Lovly C.M., Pao W. Translating genomic information into clinical medicine: lung cancer as a paradigm // Genome Res. 2012. V. 22. № 11. P. 2101–2108. https://doi.org/10.1101/gr.131128.111</mixed-citation></ref><ref id="B15"><label>15.</label><mixed-citation>Drilon A., Wang L., Arcila M.E. et al. Broad, hybrid capture-based next-generation sequencing identifies actionable genomic alterations in lung adenocarcinomas otherwise negative for such alterations by other genomic testing approaches // Clin. Cancer Res. 2015. V. 21. № 16. P. 3631–3639. https://doi.org/10.1158/1078-0432.CCR-14-2683</mixed-citation></ref><ref id="B16"><label>16.</label><mixed-citation>Liu L., Liu J., Shao D. et al. Comprehensive genomic profiling of lung cancer using a validated panel to explore therapeutic targets in East Asian patients // Cancer Sci. 2017. V. 108. № 12. P. 2487–2494. https://doi.org/10.1111/cas.13410</mixed-citation></ref><ref id="B17"><label>17.</label><mixed-citation>Rooney M., Devarakonda S., Govindan R. Genomics of squamous cell lung cancer // Oncologist. 2013. V. 18. № 6. P. 707–716. https://doi.org/10.1634/theoncologist.2013-0063</mixed-citation></ref><ref id="B18"><label>18.</label><mixed-citation>Rodgers K. Cancer genome atlas research network. Comprehensive genomic characterization of squamous cell lung cancers // Nature. 2012. V. 489. № 7417. P. 519–525. https://doi.org/10.1038/nature11404</mixed-citation></ref><ref id="B19"><label>19.</label><mixed-citation>Kim Y., Hammerman P.S., Kim J. et al. Integrative and comparative genomic analysis of lung squamous cell carcinomas in East Asian patients // J. Clin. Oncol. 2014. V. 32. № 2. P. 121–128. https://doi.org/10.1200/JCO.2013.50.8556</mixed-citation></ref><ref id="B20"><label>20.</label><mixed-citation>Wang R., Pan Y., Li C. et al. Analysis of major known driver mutations and prognosis in resected adenosquamous lung carcinomas // J. Thorac. Oncol. 2014. V. 9. № 6. P. 760–768. https://doi.org/10.1097/JTO.0b013e3182a406d1</mixed-citation></ref><ref id="B21"><label>21.</label><mixed-citation>Voortman J., Lee J.H., Killian J.K. et al. Array comparative genomic hybridization-based characterization of genetic alterations in pulmonary neuroendocrine tumors // Proc. Natl Acad. Sci. U.S.A. 2010. V. 107. № 29. P. 13040–13045. https://doi.org/10.1073/pnas.1008132107</mixed-citation></ref><ref id="B22"><label>22.</label><mixed-citation>Imielinski M., Berger A.H., Hammerman P.S. et al. Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing // Cell. 2012. V. 150. № 6. P. 1107–1120. https://doi.org/10.1016/j.cell.2012.08.029</mixed-citation></ref><ref id="B23"><label>23.</label><mixed-citation>Zwick E., Bange J., Ullrich A. Receptor tyrosine kinase signalling as a target for cancer intervention strategies // Endocrine-Related Cancer J. 2001. V. 8. № 3. P. 161–173. https://doi.org/10.1677/erc.0.0080161</mixed-citation></ref><ref id="B24"><label>24.</label><mixed-citation>Small D. FLT3 mutations: biology and treatment // Hematology. 2006. V. 1. P. 178–184. https://doi.org/10.1182/asheducation-2006.1.178</mixed-citation></ref><ref id="B25"><label>25.</label><mixed-citation>Uscanga-Perales G.I., Santuario-Facio S.K., Sanchez-Dominguez C.N. et al. Genetic alterations of triple negative breast cancer (TNBC) in women from Northeastern Mexico // Oncol. Lett. 2019. V. 17. № 3. P. 3581–3588. https://doi.org/10.3892/ol.2019.9984</mixed-citation></ref><ref id="B26"><label>26.</label><mixed-citation>Guo M., Tomoshige K., Meister M. et al. Gene signature driving invasive mucinous adenocarcinoma of the lung // EMBO Mol. Med. 2017. V. 9. № 4. P. 462–481. https://doi.org/10.15252/emmm.201606711</mixed-citation></ref><ref id="B27"><label>27.</label><mixed-citation>Qiu Z., Ye B., Wang K. et al. Unique genetic characteristics and clinical prognosis of female patients with lung cancer harboring RET fusion gene // Sci. Rep. 2020. V. 10. № 10387. https://doi.org/10.1038/s41598-020-66883-0</mixed-citation></ref><ref id="B28"><label>28.</label><mixed-citation>Zhuo Y.J., Shi Y., Wu T. NRP-1 and KDR polymorphisms are associated with survival time in patients with advanced gastric cancer // Oncol. Lett. 2019. V. 18. № 5. P. 4629–4638. https://doi.org/10.3892/ol.2019.10842</mixed-citation></ref><ref id="B29"><label>29.</label><mixed-citation>Cebrián A., Gómez Del Pulgar T., Méndez-Vidal M.J. et al. Functional PTGS2 polymorphism-based models as novel predictive markers in metastatic renal cell carcinoma patients receiving first-line sunitinib // Sci. Rep. 2017. V. 7. № 41371. https://doi.org/10.1038/srep41371</mixed-citation></ref><ref id="B30"><label>30.</label><mixed-citation>O’Brien T.J., Harralson A.F., Tran T. et al. Kinase insert domain receptor/vascular endothelial growth factor receptor 2 (KDR) genetic variation is associated with ovarian hyperstimulation syndrome // Reprod. Biol. Endocrinol. 2014. V. 12. № 36. https://doi.org/10.1186/1477-7827-12-36</mixed-citation></ref><ref id="B31"><label>31.</label><mixed-citation>Jastania R.A., Saeed M., Al-Khalidi H. et al. Adamantinomatous craniopharyngioma in an adult: A case report with NGS analysis // Int. Med. Case Rep. J. 2020. V. 13. P. 123–137. https://doi.org/10.2147/IMCRJ.S243405</mixed-citation></ref><ref id="B32"><label>32.</label><mixed-citation>Goriely A., Hansen R.M., Taylor I.B. et al. Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors // Nat. Genet. 2009. V. 41. № 11. P. 1247–1252. https://doi.org/10.1038/ng.470</mixed-citation></ref><ref id="B33"><label>33.</label><mixed-citation>Рахимова С.Е., Саматкызы Д., Кожамкулов У.А. и др. Опыт применения панели для секвенирования следующего поколения AmpliSeq Cancer HotSpot v.2 у казахстанских пациентов с плоскоклеточным раком пищевода // Вестник Казахского Нац. Мед. Ун-та. 2020. № 3. С. 76–80.</mixed-citation></ref><ref id="B34"><label>34.</label><mixed-citation>Tomei S., Adams S., Uccellini L. et al. Association between HRAS rs12628 and rs112587690 polymorphisms with the risk of melanoma in the North American population // Med. Oncol. 2012. V. 29. № 5. P. 3456–3461. https://doi.org/10.1007/s12032-012-0255-3</mixed-citation></ref><ref id="B35"><label>35.</label><mixed-citation>Jin M., Li Z., Sun Y. et al. Association analysis between the interaction of RAS family genes mutations and papillary thyroid carcinoma in the Han Chinese population // Int. J. Med. Sci. 2021. V. 18. № 2. P. 441–447. https://doi.org/10.7150/ijms.50026</mixed-citation></ref><ref id="B36"><label>36.</label><mixed-citation>Testa U., Castelli G., Pelosi E. Lung cancers: Molecular characterization, clonal heterogeneity and evolution, and cancer stem cells // Cancers (Basel). 2018. V. 10. № 8. https://doi.org/10.3390/cancers10080248</mixed-citation></ref><ref id="B37"><label>37.</label><mixed-citation>Mogi A., Kuwano H. TP53 Mutations in nonsmall cell lung cancer // J. Biomedicine and Biotechnology. 2011. V. 2011. № 583929. https://doi.org/10.1155/2011/583929</mixed-citation></ref><ref id="B38"><label>38.</label><mixed-citation>Tao D., Han X., Zhang N. et al. Genetic alteration profiling of patients with resected squamous cell lung carcinomas // Oncotarget. 2016. V. 7. № 24. P. 36590–36601. https://doi.org/10.18632/oncotarget.9096</mixed-citation></ref><ref id="B39"><label>39.</label><mixed-citation>Scheffler M., Bos M., Gardizi M. et al. PIK3CA mutations in non-small cell lung cancer (NSCLC): Genetic heterogeneity, prognostic impact and incidence of prior malignancies // Oncotarget. 2015. V. 6. № 2. P. 1315–1326. https://doi.org/10.18632/oncotarget.2834</mixed-citation></ref><ref id="B40"><label>40.</label><mixed-citation>Beenken A., Mohammadi M. The FGF family: biology, pathophysiology and therapy // Nat. Reviews. Drug Discovery. 2013. V. 8. № 3. P. 235–253. https://doi.org/10.1038/nrd2792</mixed-citation></ref><ref id="B41"><label>41.</label><mixed-citation>Jing P., Zhao N., Xie N. et al. miR-24-3p/FGFR3 signaling as a novel axis Is involved in epithelial-mesenchymal transition and regulates lung adenocarcinoma progression // J. Immunol. Res. 2018. V. 2018. № 2834109. https://doi.org/10.1155/2018/2834109</mixed-citation></ref><ref id="B42"><label>42.</label><mixed-citation>Gasche C., Chang C.L., Rhees J. et al. Oxidative stress increases frameshift mutations in human colorectal cancer cells // Cancer Research. 2001. V. 61. P. 7444–7448.</mixed-citation></ref></ref-list></back></article>
