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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 custom-type="elpub" pub-id-type="custom">medgen-1395</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>КРАТКИЕ СООБЩЕНИЯ</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>Значение генетического тестирования герминальных опухолевых мутаций в скрининге и профилактике злокачественных образований</article-title><trans-title-group xml:lang="en"><trans-title>Value of genetic testing of herminal tumor mutations in screening and prevention of malignant formations</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>Буяновская</surname><given-names>О. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Buyanovskaya</surname><given-names>O. A.</given-names></name></name-alternatives><email xlink:type="simple">o_buyanovskaya@oparina4.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>Бурменская</surname><given-names>О. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Burmenskaya</surname><given-names>O. V.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.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>Гольцов</surname><given-names>А. Ю.</given-names></name><name name-style="western" xml:lang="en"><surname>Goltsov</surname><given-names>А. .</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.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>Кочеткова</surname><given-names>Т. О.</given-names></name><name name-style="western" xml:lang="en"><surname>Kochetkova</surname><given-names>T. .</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.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>Шубина</surname><given-names>Е. .</given-names></name><name name-style="western" xml:lang="en"><surname>Shubina</surname><given-names>J. .</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.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>Мишина</surname><given-names>Н. Д.</given-names></name><name name-style="western" xml:lang="en"><surname>Mishina</surname><given-names>N. .</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.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>Трофимов</surname><given-names>Д. Ю.</given-names></name><name name-style="western" xml:lang="en"><surname>Trofimov</surname><given-names>D. Yu.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГБУ Научный центр акушерства, гинекологии и перинатологии имени академика В.И. Кулакова Минздрава России</institution><country>Россия</country></aff><aff xml:lang="en"><institution>National Medical Research Center for Obstetrics, Gynecology and Perinatology, 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>13</day><month>11</month><year>2020</year></pub-date><volume>19</volume><issue>6</issue><fpage>40</fpage><lpage>41</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Буяновская О.А., Бурменская О.В., Гольцов А.Ю., Кочеткова Т.О., Шубина Е..., Мишина Н.Д., Трофимов Д.Ю., 2020</copyright-statement><copyright-year>2020</copyright-year><copyright-holder xml:lang="ru">Буяновская О.А., Бурменская О.В., Гольцов А.Ю., Кочеткова Т.О., Шубина Е..., Мишина Н.Д., Трофимов Д.Ю.</copyright-holder><copyright-holder xml:lang="en">Buyanovskaya O.A., Burmenskaya O.V., Goltsov А..., Kochetkova T..., Shubina J..., Mishina N..., Trofimov D.Y.</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/1395">https://www.medgen-journal.ru/jour/article/view/1395</self-uri><abstract><p>Проанализированы современные данные о роли генетического тестирования мутаций в генах, ответственных за предрасположенность к наследственному раку половых органов у женщин. Представлены данные о важности использования генетического тестирования в клинической практике для прогнозирования развития заболевания, необходимости последующего мониторинга при наличии мутационной нагрузки и выбора тактики комбинированной терапии при злокачественных новообразованиях</p></abstract><trans-abstract xml:lang="en"><p>The authors analyzed available data in modern literature on the role of genetic testing for mutations in genes responsible for predisposing to hereditary cancers of reproductive organs in women. They are looking at data on the importance of using genetic testing in clinical practice to predict the disease development, need for follow-up monitoring in the presence of mutation load, and determination of combined chemotherapy policy for malignant neoplasms.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>наследственные опухолевые синдромы</kwd><kwd>рак молочной железы</kwd><kwd>рак яичников</kwd><kwd>высокий риск</kwd><kwd>скрининг</kwd><kwd>высокопроизводительное секвенирование (NGS)</kwd></kwd-group><kwd-group xml:lang="en"><kwd>Inherited Tumor Syndrome</kwd><kwd>Breast Cancer</kwd><kwd>Ovarian Cancer</kwd><kwd>High Risk</kwd><kwd>Screening</kwd><kwd>next generation sequencing (NGS)</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
