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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">ymj</journal-id><journal-title-group><journal-title xml:lang="ru">Якутский медицинский журнал</journal-title><trans-title-group xml:lang="en"><trans-title>Yakut Medical Journal</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">1813-1905</issn><issn pub-type="epub">2312-1017</issn><publisher><publisher-name>ЯНЦ КМП</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.25789/YMJ.2020.72.21</article-id><article-id custom-type="elpub" pub-id-type="custom">ymj-732</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>АКТУАЛЬНАЯ ТЕМА</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>ACTUAL TOPIC</subject></subj-group></article-categories><title-group><article-title>Мутации в генах BRCA1/2</article-title><trans-title-group xml:lang="en"><trans-title>Mutations in BRCA1/2 genes in female patients of southern Russia with ovarian malignant tumors</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>Петрусенко</surname><given-names>Н. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Petrusenko</surname><given-names>N. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Петрусенко Наталья Александровна – м.н.с.</p><p>г. Ростов-на-Дону</p></bio><bio xml:lang="en"><p>Petrusenko Natalia Aleksandrovna. – junior researcher</p><p>Rostov-on-Don</p></bio><email xlink:type="simple">petrusenko-natulya@mail.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>Вереникина</surname><given-names>Е. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Verenikina</surname><given-names>E. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Вереникина Екатерина Владимировна – к.м.н., зав. отд. Гинекологии</p><p>г. Ростов-на-Дону</p></bio><bio xml:lang="en"><p>Verenikina Ekaterina Vladimirovna. - PhD, head of the Department of gynecology</p><p>Rostov-on-Don</p></bio><email xlink:type="simple">petrusenko-natulya@mail.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>Якубова</surname><given-names>Д. Ю.</given-names></name><name name-style="western" xml:lang="en"><surname>Yakubova</surname><given-names>D. Yu.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Якубова Дарья Юрьевна – врач-онколог</p><p>г. Ростов-на-Дону</p></bio><bio xml:lang="en"><p>Yakubova Darya Yurievna. – oncologist</p><p>Rostov-on-Don</p></bio><email xlink:type="simple">darayakubova@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>Тимошкина</surname><given-names>Н. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Timoshkina</surname><given-names>N. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Тимошкина Наталья Николаевна – к.б.н., зав. лаб.</p><p>г. Ростов-на-Дону</p></bio><bio xml:lang="en"><p>Timoshkina Natalia Nikolaevna - PhD, head of the laboratory</p><p>Rostov-onDon</p></bio><email xlink:type="simple">timoshkinann@rnioi.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГБУ «Национальный медицинский исследовательский центр онкологии» Минздрава России</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Federal state budgetary institution, National Medical research center of Oncology of the Ministry of health of Russia</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2020</year></pub-date><pub-date pub-type="epub"><day>02</day><month>06</month><year>2025</year></pub-date><volume>0</volume><issue>4</issue><fpage>87</fpage><lpage>89</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Петрусенко Н.А., Вереникина Е.В., Якубова Д.Ю., Тимошкина Н.Н., 2025</copyright-statement><copyright-year>2025</copyright-year><copyright-holder xml:lang="ru">Петрусенко Н.А., Вереникина Е.В., Якубова Д.Ю., Тимошкина Н.Н.</copyright-holder><copyright-holder xml:lang="en">Petrusenko N.A., Verenikina E.V., Yakubova D.Y., Timoshkina N.N.</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://ymj.elpub.ru/jour/article/view/732">https://ymj.elpub.ru/jour/article/view/732</self-uri><abstract><p>В статье представлены результаты исследования спектра мутаций в генах BRCA1/2, ассоциированных с развитием наследственного рака молочной железы и яичников, у пациенток юга России со злокачественными новообразованиями яичников. Частота мутаций в генах BRCA1/2 у обследованных пациенток оставила 20,8 %. Распределение типов мутаций с преобладанием 5382insC BRCA1 соответствует соотношению их встречаемости в популяциях европейских стран. Носителей мутаций BRCA1/2 регистрировали чаще в группе пациенток с низкодифференцированной серозной карциномой.</p></abstract><trans-abstract xml:lang="en"><p>The article presents the results of a study of the spectrum of mutations in the BRCA1 / 2 genes associated with the development of hereditary breast and ovarian cancer in patients of South Russia with malignant ovarian neoplasms.Mutations in the BRCA1 gene were determined by real-time PCR: 185delAG, 300T&gt; C, 2080delA, 4153delA, 5382insC, 3819delGTAAA, 3875delGTCT; in the BRCA2 gene - 6174delT in 178 patients with a histologically verified diagnosis of ovarian cancer.The study included epithelial tumors (malignant) - 98.1%, and granulosa cell tumors - 1.9%. Of the epithelial tumors, the most common was high-grade serous carcinoma (78%). Based on the results of genotyping, the prevalence of germline mutations in the BRCA1 / 2 genes was revealed at 20.8%. The higher rate of genetic changes is obviously associated with hereditary history (40% of patients). Of the seven identified mutations, 5382insC (67.6%) was revealed more frequently. All patients confirmed the same mutation in the tumor. There were no cases of somatic changes in BRCA1/2. The prevalence of BRCA1 mutations was noted in the group of patients with low-grade serous carcinoma, in which all cases of mutations in the BRCA2 gene were identified.Thus, in patients with OC living in the south of Russia, the mutation frequency in the BRCA1 / 2 genes was 20.8%. The distribution of mutation types with predominance of 5382insC BRCA1 (67.6%) corresponds to the ratio of their occurrence in populations of European countries. BRCA1 / 2 mutations were recorded more frequently in the group of patients with high-grade serous carcinoma.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>рак яичников</kwd><kwd>мутации</kwd><kwd>BRCA1/2</kwd><kwd>ПЦР</kwd></kwd-group><kwd-group xml:lang="en"><kwd>ovarian cancer</kwd><kwd>mutations</kwd><kwd>BRCA1/2</kwd><kwd>PCR</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Франк Г.А. Новая классификация опухолей яичников / Г.А. Франк, Л.В. Москвина, Ю.Ю. Андреева // Архив патологии. – 2015. - №4. - С. 40-50. doi: 10.17116/patol201577440-50.</mixed-citation><mixed-citation xml:lang="en">Frank G.A., Moscvina L.V., Andreeva Yu.Yu. A new classification of ovarian tumors. 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