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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">10.25557/2073-7998.2023.12.12-19</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-2383</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>НАУЧНЫЙ ОБЗОР</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>REVIEW</subject></subj-group></article-categories><title-group><article-title>Клиническая значимость мутаций в гене PIK3CA в различных молекулярных подтипах рака молочной железы</article-title><trans-title-group xml:lang="en"><trans-title>Clinical significance of PIK3CA mutations in breast cancer subtypes</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>Королева</surname><given-names>Е. И.</given-names></name><name name-style="western" xml:lang="en"><surname>Koroleva</surname><given-names>E. I.</given-names></name></name-alternatives><bio xml:lang="ru"><p>197022, г. Санкт-Петербург, ул. Льва Толстого, д. 6–8</p></bio><bio xml:lang="en"><p>6-8 Lva Tolstogo st., Saint Petersburg, 197022</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Назаров</surname><given-names>В. Д.</given-names></name><name name-style="western" xml:lang="en"><surname>Nazarov</surname><given-names>V. D.</given-names></name></name-alternatives><bio xml:lang="ru"><p>197022, г. Санкт-Петербург, ул. Льва Толстого, д. 6–8</p></bio><bio xml:lang="en"><p>6-8 Lva Tolstogo st., Saint Petersburg, 197022</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Лапин</surname><given-names>С. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Lapin</surname><given-names>S. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>197022, г. Санкт-Петербург, ул. Льва Толстого, д. 6–8</p></bio><bio xml:lang="en"><p>6-8 Lva Tolstogo st., Saint Petersburg, 197022</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Владыкина</surname><given-names>А. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Vladykina</surname><given-names>A. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>197022, г. Санкт-Петербург, ул. Льва Толстого, д. 6–8</p></bio><bio xml:lang="en"><p>6-8 Lva Tolstogo st., Saint Petersburg, 197022</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Анисимов</surname><given-names>С. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Anisimov</surname><given-names>S. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>194100, г. Санкт-Петербург, ул. Литовская, д. 17А, литер А</p></bio><bio xml:lang="en"><p>17A Litovskaya st., Saint Petersburg, 194100</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>Щелканова</surname><given-names>И. Ю.</given-names></name><name name-style="western" xml:lang="en"><surname>Shchelkanova</surname><given-names>I. Yu.</given-names></name></name-alternatives><bio xml:lang="ru"><p>194100, г. Санкт-Петербург, ул. Литовская, д. 17А, литер А</p></bio><bio xml:lang="en"><p>17A Litovskaya st., Saint Petersburg, 194100</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>Эмануэль</surname><given-names>В. Л.</given-names></name><name name-style="western" xml:lang="en"><surname>Emanuel</surname><given-names>V. L.</given-names></name></name-alternatives><bio xml:lang="ru"><p>197022, г. Санкт-Петербург, ул. Льва Толстого, д. 6–8</p></bio><bio xml:lang="en"><p>6-8 Lva Tolstogo st., Saint Petersburg, 197022</p></bio><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГБОУ ВО «Первый Санкт-Петербургский государственный медицинский университет имени академика И.П. Павлова» Минздрава России</institution><country>Россия</country></aff><aff xml:lang="en"><institution>I.P. Pavlov First Saint-Petersburg State Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ООО «Национальный БиоСервис»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>National BioService, Ltd</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2023</year></pub-date><pub-date pub-type="epub"><day>23</day><month>12</month><year>2023</year></pub-date><volume>22</volume><issue>12</issue><fpage>12</fpage><lpage>19</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Королева Е.И., Назаров В.Д., Лапин С.В., Владыкина А.В., Анисимов С.В., Щелканова И.Ю., Эмануэль В.Л., 2023</copyright-statement><copyright-year>2023</copyright-year><copyright-holder xml:lang="ru">Королева Е.И., Назаров В.Д., Лапин С.В., Владыкина А.В., Анисимов С.В., Щелканова И.Ю., Эмануэль В.Л.</copyright-holder><copyright-holder xml:lang="en">Koroleva E.I., Nazarov V.D., Lapin S.V., Vladykina A.V., Anisimov S.V., Shchelkanova I.Y., Emanuel V.L.</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/2383">https://www.medgen-journal.ru/jour/article/view/2383</self-uri><abstract><p>Ген PIK3CA входит в число трех наиболее часто мутирующих онкогенов в структуре различных злокачественных новообразований: его дефекты обнаруживаются в образцах рака молочной железы, эндометрия, мочевого пузыря и других видах опухолей. В настоящий момент наибольшую практическую значимость имеет выявление мутаций у пациентов с гормонположительным HER2-отрицательным раком молочной железы, что обусловлено возможностью применения ингибиторов PI3K в терапии данного заболевания. При других молекулярных подтипах воздействие на мутации гена может позволить преодолеть резистентность и увеличить эффективность стандартного лечения. В данной статье изложено клиническое значение выявления мутаций при гормонположительном, HER2-положительном и трижды негативном раке молочной железы, их влияние на прогноз и тактику ведения пациентов, а также описаны проблемы молекулярно-генетического исследования структуры гена. Кроме того, в статье приведены результаты анализа распространенности конкретных мутаций по данным молекулярно-генетического тестирования 118 пациентов, проведенного в лаборатории ПСПбГМУ имени академика И.П. Павлова.</p></abstract><trans-abstract xml:lang="en"><p>PIK3CA is one of the three most frequently mutated oncogenes in human cancers. The highest rate of mutations is found in breast cancer, endometrial cancer, bladder cancer and some other tumors. Due to integration of PI3K inhibitors in clinical practice, PIK3CA testing is necessary for developing treatment strategies for HR-positive HER2-negative patients. However, PIK3CA testing may play an important role in understanding and treatment of HER2-positive and triple-negative subtypes as well. We hereby discuss clinical significance of PIK3CA mutations in different molecular breast cancer subtypes and possible genetic testing challenges. The article also presents a frequency analysis of different PIK3CA mutations in a study of 118 patients.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>PIK3CA</kwd><kwd>PI3K ингибиторы</kwd><kwd>рак молочной железы</kwd><kwd>алпелисиб</kwd></kwd-group><kwd-group xml:lang="en"><kwd>PIK3CA</kwd><kwd>PI3K inhibitors</kwd><kwd>breast cancer</kwd><kwd>alpelisib</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">Willis O., Choucair K., Alloghbi A., et al. PIK3CA gene aberrancy and role in targeted therapy of solid malignancies. Cancer Gene Ther. 2020;27(9):634-644. doi:10.1038/s41417-020-0164-0</mixed-citation><mixed-citation xml:lang="en">Willis O., Choucair K., Alloghbi A., et al. PIK3CA gene aberrancy and role in targeted therapy of solid malignancies. 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