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<article article-type="research-article" dtd-version="1.3" 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" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">medgen</journal-id><journal-title-group><journal-title xml:lang="ru">Медицинская генетика</journal-title><trans-title-group xml:lang="en"><trans-title>Medical Genetics</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2073-7998</issn><publisher><publisher-name>Publishing House «Genius Media» LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.25557/2073-7998.2025.06.27-29</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-3015</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>КРАТКОЕ СООБЩЕНИЕ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>BRIEF REPORT</subject></subj-group></article-categories><title-group><article-title>Анализ полиморфизма rs113488022 гена BRAF у женщин из Республики Башкортостан</article-title><trans-title-group xml:lang="en"><trans-title>Analysis of rs113488022 polymorphism of the BRAF gene in women from the Republic of Bashkortostan</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Андреева</surname><given-names>Е. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Andreeva</surname><given-names>E. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>450076, Уфа, ул. Заки Валиди, д. 32; 454092, Челябинск, ул. Курчатова, д. 9</p></bio><bio xml:lang="en"><p>32, Zaki Validi st., Ufa, 450076; 9, Kurchatov st., Chelyabinsk, 454092</p></bio><email xlink:type="simple">ekaterinabiology@yandex.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Аминова</surname><given-names>Э. Т.</given-names></name><name name-style="western" xml:lang="en"><surname>Aminova</surname><given-names>E. T.</given-names></name></name-alternatives><bio xml:lang="ru"><p>450076, Уфа, Россия, ул. Заки Валиди, д. 32</p></bio><bio xml:lang="en"><p>32, Zaki Validi st., Ufa, 450076</p></bio><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Валова</surname><given-names>Я. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Valova</surname><given-names>Y. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>450076, Уфа, ул. Заки Валиди, д. 32; 450106, Уфа, ул. Степана Кувыкина, д. 94</p></bio><bio xml:lang="en"><p>32, Zaki Validi st., Ufa, 450076; 94, Stepan Kuvykin st., Ufa, 450106</p></bio><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Романова</surname><given-names>А. Р.</given-names></name><name name-style="western" xml:lang="en"><surname>Romanova</surname><given-names>A. R.</given-names></name></name-alternatives><bio xml:lang="ru"><p>450008, Уфа, ул. Ленина, д. 3</p></bio><bio xml:lang="en"><p>3, Lenin st., Ufa, 450008</p></bio><xref ref-type="aff" rid="aff-4"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Фаисханова</surname><given-names>Р. Р.</given-names></name><name name-style="western" xml:lang="en"><surname>Faiskhanova</surname><given-names>R. R.</given-names></name></name-alternatives><bio xml:lang="ru"><p>450054, Уфа, пр-т Октября, д. 73/1</p></bio><bio xml:lang="en"><p>73/1, Oktyabrsky st., Ufa, 450054</p></bio><xref ref-type="aff" rid="aff-5"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Загитов</surname><given-names>И. Р.</given-names></name><name name-style="western" xml:lang="en"><surname>Zagitov</surname><given-names>I. R.</given-names></name></name-alternatives><bio xml:lang="ru"><p>450054, Уфа, пр-т Октября, д. 73/1</p></bio><bio xml:lang="en"><p>73/1, Oktyabrsky st., Ufa, 450054</p></bio><xref ref-type="aff" rid="aff-5"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Бабушкин</surname><given-names>Ю. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Babushkin</surname><given-names>Y. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>454007, Челябинск, пр. Ленина, д. 3</p></bio><bio xml:lang="en"><p>3, Lenina pr., Chelyabinsk, 454007</p></bio><xref ref-type="aff" rid="aff-6"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Хуснутдинова</surname><given-names>Э. К.</given-names></name><name name-style="western" xml:lang="en"><surname>Khusnutdinova</surname><given-names>E. K.</given-names></name></name-alternatives><bio xml:lang="ru"><p>450076, Уфа, ул. Заки Валиди, д. 32; 450054, Уфа, проспект Октября, д. 71Е</p></bio><bio xml:lang="en"><p>32, Zaki Validi st., Ufa, 450076; 71, Oktyabrsky st., Ufa, 450054</p></bio><xref ref-type="aff" rid="aff-7"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Прокофьева</surname><given-names>Д. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Prokofyeva</surname><given-names>D. S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>450076, Уфа, ул. Заки Валиди, д. 32</p></bio><bio xml:lang="en"><p>32, Zaki Validi st., Ufa, 450076</p></bio><xref ref-type="aff" rid="aff-2"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГБОУ ВО Уфимский университет науки и технологий; АНО ВО Уральский Медицинский Институт</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Ufa State University of Science and Technology; Ural Medical Institute</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ФГБОУ ВО Уфимский университет науки и технологий</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Ufa State University of Science and Technology</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>ФГБОУ ВО Уфимский университет науки и технологий; ФБУН «Уфимский научно-исследовательский институт медицины труда и экологии человека»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Ufa State University of Science and Technology; Ufa Research Institute of Occupational Health and Human Ecology</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-4"><aff xml:lang="ru"><institution>ФГБОУ ВО Башкирский государственный медицинский университет</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Bashkir State Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-5"><aff xml:lang="ru"><institution>ГАУЗ Республиканский клинический онкологический диспансер</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Republican Clinical Oncology Dispensary</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-6"><aff xml:lang="ru"><institution>ГАУЗ Городская клиническая поликлиника №8</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Clinical Polyclinic №8 of Chelyabinsk</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-7"><aff xml:lang="ru"><institution>ФГБОУ ВО Уфимский университет науки и технологий; Институт биохимии и генетики – обособленное структурное подразделение Федерального государственного бюджетного научного учреждения Уфимского федерального исследовательского центра Российской академии наук</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Ufa State University of Science and Technology; Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2025</year></pub-date><pub-date pub-type="epub"><day>21</day><month>08</month><year>2025</year></pub-date><volume>24</volume><issue>6</issue><fpage>27</fpage><lpage>29</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Андреева Е.А., Аминова Э.Т., Валова Я.В., Романова А.Р., Фаисханова Р.Р., Загитов И.Р., Бабушкин Ю.В., Хуснутдинова Э.К., Прокофьева Д.С., 2025</copyright-statement><copyright-year>2025</copyright-year><copyright-holder xml:lang="ru">Андреева Е.А., Аминова Э.Т., Валова Я.В., Романова А.Р., Фаисханова Р.Р., Загитов И.Р., Бабушкин Ю.В., Хуснутдинова Э.К., Прокофьева Д.С.</copyright-holder><copyright-holder xml:lang="en">Andreeva E.A., Aminova E.T., Valova Y.V., Romanova A.R., Faiskhanova R.R., Zagitov I.R., Babushkin Y.V., Khusnutdinova E.K., Prokofyeva D.S.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.medgen-journal.ru/jour/article/view/3015">https://www.medgen-journal.ru/jour/article/view/3015</self-uri><abstract><sec><title>Введение</title><p>Введение. В связи с отсутствием специфических симптомов и эффективных методов ранней диагностики рака яичников, поиск новых молекулярно-генетических маркеров этого заболевания становится критически важной проблемой.</p></sec><sec><title>Цель</title><p>Цель: исследование полиморфного варианта rs113488022/BRAF у женщин из Республики Башкортостан.</p></sec><sec><title>Методы</title><p>Методы. В исследование были включены образцы ДНК женщин, больных спорадическим раком яичников (n=210), наследственным раком (n=72), и условно-здоровых доноров (n=208). Генотипирование проводилось методом ПЦР в режиме реального времени (ПЦР-real time).</p></sec><sec><title>Результаты</title><p>Результаты. Среди включенных в исследование женщин не выявлено носителей минорного аллеля полиморфного локуса rs113488022 гена BRAF.</p></sec><sec><title>Выводы</title><p>Выводы. Отсутствие носителей редкого аллеля rs113488022/BRAF может объясняться низкой распространенностью этого полиморфизма в регионе, подчеркивая необходимость дальнейших генетических исследований для выявления других потенциальных генетических предикторов рака яичников.</p></sec></abstract><trans-abstract xml:lang="en"><sec><title>Introduction</title><p>Introduction. The absence of pathognomonic symptoms and effective early screening methods of ovarian cancer dictates the need for search new molecular genetic markers of this disease.</p></sec><sec><title>Aim</title><p>Aim: to find the polymorphic variant rs113488022/BRAF in women from the Republic of Bashkortostan.</p></sec><sec><title>Methods</title><p>Methods. This study included DNA samples from women with sporadic ovarian cancer (n=210), hereditary ovarian cancer (n=72), and women without oncopathology (n=208). Genotyping was performed using real-time PCR.</p></sec><sec><title>Results</title><p>Results. No carriers of the minor allele of the polymorphic locus rs113488022 of the BRAF gene were identified among the women included in the study.</p></sec><sec><title>Conclusions</title><p>Conclusions. The absence of carriers of the rare allele rs113488022/BRAF may be explained by the low prevalence of this polymorphism in the region, highlighting the need for further genetic research to identify other potential genetic predictors of ovarian cancer.</p></sec></trans-abstract><kwd-group xml:lang="ru"><kwd>онкогенетика</kwd><kwd>генетика рака яичников</kwd><kwd>SNP</kwd><kwd>BRAF</kwd></kwd-group><kwd-group xml:lang="en"><kwd>oncogenetics</kwd><kwd>ovarian cancer genetics</kwd><kwd>SNP</kwd><kwd>BRAF</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">Работа выполнена по государственному заданию Министерства науки и высшего образования РФ № 075-03-2024-123/1.</funding-statement><funding-statement xml:lang="en">The work was carried out according to the state assignment of the Ministry of Science and Higher Education of the Russian Federation No. 075-03-2024-123/1.</funding-statement></funding-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Ferlay J., Ervik M., Lam F., et al. 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