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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">oncotomsk</journal-id><journal-title-group><journal-title xml:lang="ru">Сибирский онкологический журнал</journal-title><trans-title-group xml:lang="en"><trans-title>Siberian journal of oncology</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">1814-4861</issn><issn pub-type="epub">2312-3168</issn><publisher><publisher-name>Tomsk National Research Medical Сепtеr of the Russian Academy of Sciences</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.21294/1814-4861-2022-21-5-123-134</article-id><article-id custom-type="elpub" pub-id-type="custom">oncotomsk-2315</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>ОБЗОРЫ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>REVIEWS</subject></subj-group></article-categories><title-group><article-title>Наследственные злокачественные опухоли яичника</article-title><trans-title-group xml:lang="en"><trans-title>Hereditary ovarian cancer</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-0486-2404</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Котив</surname><given-names>Х. Б.</given-names></name><name name-style="western" xml:lang="en"><surname>Kotiv</surname><given-names>Kh. B.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Котив Христина Богдановна, кандидат медицинских наук, научный сотрудник отделения онкогинекологии; ассистент кафедры акушерства и гинекологии</p><p>SPIN-код: 3049-8250. Author ID (Scopus): 57193895371</p><p> Россия, 197758, г. Санкт-Петербург, пос. Песочный, ул. Ленинградская, 68 </p><p> Россия, 191015, г. Санкт-Петербург, ул. Кирочная, 41 </p></bio><bio xml:lang="en"><p> Khristina B. Kotiv, MD, PhD, Researcher of the Department of Gynecologic Oncology; Assistant of the Department of Obstetrics and Gynecology</p><p>Author ID (Scopus): 57193895371 </p><p>68, Leningradskaya St., 197758, St. Petersburg, Russia</p><p>41, Kirochnaya St., 191015, St. Petersburg, Russia</p></bio><email xlink:type="simple">kotiv.onc@gmail.com</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-1719-7498</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Городнова</surname><given-names>Т. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Gorodnova</surname><given-names>T. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Городнова Татьяна Васильевна, кандидат медицинских наук, научный сотрудник</p><p>SPIN-код: 2661-9106. Author ID (Scopus): 36010503000</p><p> Россия, 197758, г. Санкт-Петербург, пос. Песочный, ул. Ленинградская, 68 </p></bio><bio xml:lang="en"><p> Tatiana V. Gorodnova, MD, PhD, Researcher of the Department of Gynecologic Oncology</p><p>Author ID (Scopus): 36010503000 </p><p>68, Leningradskaya St., 197758, St. Petersburg, Russia</p><p> </p></bio><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-6304-1609</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Соколенко</surname><given-names>А. П.</given-names></name><name name-style="western" xml:lang="en"><surname>Sokolenko</surname><given-names>A. P.</given-names></name></name-alternatives><bio xml:lang="ru"><p> Соколенко Анна Петровна, кандидат медицинских наук, научный сотрудник отделения молекулярной онкологии; доцент кафедры общей и молекулярной медицинской генетики </p><p> Researcher ID (WOS): G-3123-2013. Author ID (Scopus):7004209770 </p><p> Россия, 197758, г. Санкт-Петербург, пос. Песочный, ул. Ленинградская, 68 </p><p> Россия, 194100, г. Санкт-Петербург, ул. Литовская, 2 </p></bio><bio xml:lang="en"><p>Anna P. Sokolenko, MD, PhD, Researcher of the Department of Tumor Biology; Assistant Professor of the Department of General and Molecular Medical Genetic</p><p>Researcher ID (WOS): G-3123-2013. Author ID (Scopus): 7004209770 </p><p>68, Leningradskaya St., 197758, St. Petersburg, Russia</p><p>2, Litovskaya St., 194100, St. Petersburg, Russia</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>Берлев</surname><given-names>И. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Berlev</surname><given-names>I. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p> Берлев Игорь Викторович, доктор медицинских наук, профессор, заведующий отделением онкогинекологии; заведующий кафедрой акушерства и гинекологии</p><p>Author ID (Scopus): 6603322008 </p><p> Россия, 197758, г. Санкт-Петербург, пос. Песочный, ул. Ленинградская, 68 </p><p> Россия, 191015, г. Санкт-Петербург, ул. Кирочная, 41 </p></bio><bio xml:lang="en"><p> Igor V. Berlev, MD, Professor, Head of the Department of Gynecologic Oncology; Head of the Department of Obstetrics and Gynecology</p><p>Author ID (Scopus): 6603322008 </p><p>68, Leningradskaya St., 197758, St. Petersburg, Russia</p><p>41, Kirochnaya St., 191015, St. Petersburg, Russia</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-4529-7891</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Имянитов</surname><given-names>Е. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Imyanitov</surname><given-names>E. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p> Имянитов Евгений Наумович, доктор медицинских наук, профессор, член-корреспондент РАН, заведующий научным отделом биологии опухолевого роста; заведующий кафедрой общей и молекулярной медицинской генетики</p><p>SPIN-код: 1909-7323. Author ID (Scopus): 7003644486</p><p> Россия, 197758, г. Санкт-Петербург, пос. Песочный, ул. Ленинградская, 68 </p><p> Россия, 194100, г. Санкт-Петербург, ул. Литовская, 2 </p></bio><bio xml:lang="en"><p>Evgeny N. Imyanitov, MD, Professor, Corresponding Member of the Russian Academy of Sciences, Head of the Department of Tumor Biology; Head of the Department of Tumor Biology</p><p>Author ID (Scopus): 7003644486 </p><p>68, Leningradskaya St., 197758, St. Petersburg, Russia</p><p>2, Litovskaya St., 194100, St. Petersburg, Russia</p></bio><xref ref-type="aff" rid="aff-3"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГБУ «Национальный медицинский исследовательский центр онкологии им. Н.Н. Петрова» Минздрава России;&#13;
ФГБОУ ВО «Северо-Западный государственный медицинский университет им. И.И. Мечникова» Минздрава России</institution><country>Россия</country></aff><aff xml:lang="en"><institution>N.N. Petrov National Medical Research Center of Oncology;&#13;
I.I. Mechnikov North-Western State Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ФГБУ «Национальный медицинский исследовательский центр онкологии им. Н.Н. Петрова» Минздрава России</institution><country>Россия</country></aff><aff xml:lang="en"><institution>N.N. Petrov National Medical Research Center of Oncology</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>ФГБУ «Национальный медицинский исследовательский центр онкологии им. Н.Н. Петрова» Минздрава России;&#13;
ФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Минздрава России</institution><country>Россия</country></aff><aff xml:lang="en"><institution>N.N. Petrov National Medical Research Center of Oncology;&#13;
St. Petersburg State Pediatric Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2022</year></pub-date><pub-date pub-type="epub"><day>31</day><month>10</month><year>2022</year></pub-date><volume>21</volume><issue>5</issue><fpage>123</fpage><lpage>134</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Котив Х.Б., Городнова Т.В., Соколенко А.П., Берлев И.В., Имянитов Е.Н., 2022</copyright-statement><copyright-year>2022</copyright-year><copyright-holder xml:lang="ru">Котив Х.Б., Городнова Т.В., Соколенко А.П., Берлев И.В., Имянитов Е.Н.</copyright-holder><copyright-holder xml:lang="en">Kotiv K.B., Gorodnova T.V., Sokolenko A.P., Berlev I.V., Imyanitov E.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://www.siboncoj.ru/jour/article/view/2315">https://www.siboncoj.ru/jour/article/view/2315</self-uri><abstract><p>Введение. Наследственные дефекты генов – достоверный фактор риска злокачественной трансформации клеток и развития онкологических заболеваний. На долю наследственных форм приходится 15–25 % всех случаев карцином яичника. Цель исследования – обобщить имеющиеся данные о наследственных злокачественных опухолях яичников: ассоциированных генетических дефектах, особенностях клинического течения, лечения и профилактических мероприятий. Материал и методы. Поиск литературных источников выполнялся в базах PubMed, Medline, Cochrane Library, включались публикации с 1999 по 2021 г. Результаты. Описаны основные генетические дефекты и ассоциированные с ними опухолевые синдромы, предрасполагающие к развитию наследственных злокачественных опухолей яичника. Представлены особенности клинического течения и чувствительность к лекарственной терапии. Обобщены рекомендации профессиональных сообществ: Национальной онкологической сети США (National Comprehensive Cancer Network, NCCN), Американского общества клинической онкологии (American Society Of Clinical Oncology, ASCO), Рабочей группы по профилактике заболеваний в США (The U.S. Preventive Services Task Force), Европейского общества медицинской онкологии (European Society For Medical Oncology, ESMO), направленные на раннее выявление новообразований, и представлен комплекс профилактических мер для предотвращения развития злокачественных опухолей яичника у носителей герминальных мутаций. Заключение. Выявление наследственных опухолевых синдромов имеет важное значение для пациентов и их семей. Своевременное определение предрасположенности к развитию злокачественных опухолей позволяет оптимизировать программы скрининга и профилактики онкологических заболеваний.</p></abstract><trans-abstract xml:lang="en"><p>Background. Hereditary genetic mutations are a significant risk factor for malignant transformation of cells and cancer development. Hereditary genetic mutations account for 15 to 25 % of all ovarian carcinomas. Purpose of the study: to summarize data on hereditary ovarian malignancies, namely: genetic defects, features of the clinical course, treatment options, and disease prevention. Material and methods. A systemic search was undertaken using PubMed, Medline, Cochrane Library databases for publications from 1999 to 2021. Results. The review describes the main genetic defects and hereditary cancer syndromes predisposing to the development of hereditary malignant ovarian tumors. The features of the clinical course and response to drug therapy have been presented. This article summarizes clinical guidelines of the professional communities (National Comprehensive Cancer Network (NCCN), American Society Of Clinical Oncology (ASCO), The U.S. Preventive Services Task Force, and European Society For Medical Oncology (ESMO). These guidelines contain early detection strategies and approaches to prevent the development of cancers in mutation carriers. Conclusion. Detection of hereditary cancer syndromes is important for patients and their families. Recognizing hereditary predisposition to cancer is important to allow timely surveillance and preventative interventions for both patients and family members.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>наследственные злокачественные опухоли яичника</kwd><kwd>BRca мутации</kwd><kwd>синдром Линча</kwd><kwd>мутации в генах MSH2</kwd><kwd>MLH1</kwd><kwd>MSH6</kwd><kwd>PMS2</kwd><kwd>EPCAM</kwd><kwd>BRIP1</kwd><kwd>RAD51C</kwd><kwd>RAD51D</kwd><kwd>АТМ</kwd><kwd>NBN</kwd><kwd>STK11</kwd><kwd>PALB2</kwd></kwd-group><kwd-group xml:lang="en"><kwd>hereditary ovarian cancer</kwd><kwd>BRca mutations</kwd><kwd>lynch syndrome</kwd><kwd>mutations in the genes MSH2</kwd><kwd>MLH1</kwd><kwd>MSH6</kwd><kwd>PMS2</kwd><kwd>EPCAM</kwd><kwd>BRIP1</kwd><kwd>RAD51C</kwd><kwd>RAD51D</kwd><kwd>ATM</kwd><kwd>NBN</kwd><kwd>STK11</kwd><kwd>PALB2</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">Работа выполнена при поддержке гранта РНФ №21-75-30015.</funding-statement><funding-statement xml:lang="en">The study was supported by the Russian Science Foundation grant No. 21-75-30015.</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">Имянитов Е.Н. 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