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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">clinvest</journal-id><journal-title-group><journal-title xml:lang="ru">Качественная клиническая практика</journal-title><trans-title-group xml:lang="en"><trans-title>Kachestvennaya Klinicheskaya Praktika = Good Clinical Practice</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2588-0519</issn><issn pub-type="epub">2618-8473</issn><publisher><publisher-name>ООО «Издательство ОКИ</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.37489/2588-0519-2023-1-47-55</article-id><article-id custom-type="elpub" pub-id-type="custom">clinvest-650</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>ПАЦИЕНТООРИЕНТИРОВАННАЯ МЕДИЦИНА</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>PATIENT-ORIENTED MEDICINE</subject></subj-group></article-categories><title-group><article-title>Психологическое сопровождение носителей мутаций в генах, ассоциированных с наследственным раком молочной железы</article-title><trans-title-group xml:lang="en"><trans-title>Psychological support for carriers of mutations in genes associated with hereditary breast 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/0000-0001-9356-2288</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Фирсова</surname><given-names>Л. Д.</given-names></name><name name-style="western" xml:lang="en"><surname>Firsova</surname><given-names>L. D.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Фирсова Людмила Дмитриевна, д. м. н., заведующая лабораторией клинической психологии </p><p>Москва</p></bio><bio xml:lang="en"><p>Firsova Ludmila D., Dr. Sci. (Med.), Head of the Laboratory of Clinical Psychology</p><p>Moscow</p></bio><email xlink:type="simple">l.firsova@mknc.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-6585-0917</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Огарев</surname><given-names>В. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Ogarev</surname><given-names>V. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Огарёв Валерий Владимирович, к. псх. н., медицинский психолог Центра персонализированной медицины; старший преподаватель кафедры клинической психологии</p><p>Москва</p></bio><bio xml:lang="en"><p>Ogarev Valery V., Cand. Sci. Psychology, medical psychologist of the Center for Personalized Medicine; senior lecturer of the Department of Clinical Psychology </p><p>Moscow</p></bio><email xlink:type="simple">v.ogarev@mknc.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Канатбек кызы</surname><given-names>Айдана</given-names></name><name name-style="western" xml:lang="en"><surname>Kanatbek kyzy</surname><given-names>Aydana</given-names></name></name-alternatives><bio xml:lang="ru"><p>Канатбек кызы Айдана, медицинский психолог Центра персонализированной медицины; старший преподаватель кафедры клинической психологии </p><p>Москва</p></bio><bio xml:lang="en"><p>Kanatbek kyzy Aydana, Medical psychologist of the Center for Personalized  Medicine;  senior lecturer of the Department of Clinical Psychology </p><p>Moscow</p></bio><email xlink:type="simple">A.kanatbek@mknc.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-4501-8031</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Ромашкина</surname><given-names>Н. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Romashkina</surname><given-names>N. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Ромашкина Наталья Витальевна, врач-психиатр Центра персонализированной медицины</p><p>Москва</p></bio><bio xml:lang="en"><p>Romashkina Nataliya V., Psychiatrist of the Center for Personalized Medicine </p><p>Moscow</p></bio><email xlink:type="simple">n.romashkina@mknc.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-5146-6925</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Янова</surname><given-names>Т. И.</given-names></name><name name-style="western" xml:lang="en"><surname>Yanova</surname><given-names>T. I.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Янова Татьяна Ивановна, врач-генетик Центра персонализированной медицины</p><p>Москва</p></bio><bio xml:lang="en"><p>Yanova Tatiana I., Geneticist of the Center for Personalized Medicine </p><p>Moscow</p></bio><email xlink:type="simple">t.yanova@mknc.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-3573-8342</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Данишевич</surname><given-names>А. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Danishevich</surname><given-names>A.  M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Данишевич Анастасия Михайловна, врач-генетик Центра персонализированной медицины </p><p>Москва</p></bio><bio xml:lang="en"><p>Danishevich Anastasia M., Geneticist of the Center for Personalized Medicine</p><p>Moscow</p></bio><email xlink:type="simple">a.danishevich@mknc.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-3119-7673</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Бодунова</surname><given-names>Н. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Bodunova</surname><given-names>N. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Бодунова Наталья Александровна, к. м. н., заведующая Центром персонализированной медицины </p><p>Москва</p></bio><bio xml:lang="en"><p>Bodunova Natalia A., Cand. Sci. Med., Head of the Center for Personalized Medicine </p><p>Moscow</p></bio><email xlink:type="simple">n.bodunova@mknc.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Государственное бюджетное учреждение здравоохранения города Москвы «Московский клинический  научно-практический центр имени А. С. Логинова Департамента здравоохранения города Москвы»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>SBIH Moscow Clinical Scientific Center named after Loginov MHD</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Государственное бюджетное учреждение здравоохранения города Москвы «Московский клинический  научно-практический центр имени А. С. Логинова Департамента здравоохранения города Москвы»; Федеральное государственное бюджетное образовательное учреждение высшего образования  &#13;
«Московский государственный медико-стоматологический университет имени А. И. Евдокимова»  Министерства здравоохранения Российской Федерации</institution><country>Россия</country></aff><aff xml:lang="en"><institution>SBIH Moscow Clinical Scientific Center named after Loginov MHD; Federal State Budgetary Educational Institution of Higher Education «A. I. Yevdokimov Moscow State University  of Medicine and Dentistry» of the Ministry of Healthcare of the Russian Federation</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2023</year></pub-date><pub-date pub-type="epub"><day>19</day><month>04</month><year>2023</year></pub-date><volume>0</volume><issue>1</issue><fpage>47</fpage><lpage>55</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Фирсова Л.Д., Огарев В.В., Канатбек кызы А., Ромашкина Н.В., Янова Т.И., Данишевич А.М., Бодунова Н.А., 2023</copyright-statement><copyright-year>2023</copyright-year><copyright-holder xml:lang="ru">Фирсова Л.Д., Огарев В.В., Канатбек кызы А., Ромашкина Н.В., Янова Т.И., Данишевич А.М., Бодунова Н.А.</copyright-holder><copyright-holder xml:lang="en">Firsova L.D., Ogarev V.V., Kanatbek kyzy A., Romashkina N.V., Yanova T.I., Danishevich A.M., Bodunova N.A.</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.clinvest.ru/jour/article/view/650">https://www.clinvest.ru/jour/article/view/650</self-uri><abstract><sec><title>Актуальность</title><p>Актуальность. Информирование пациентов о наличии патогенной мутации в генах может стать для них психотравмирующей ситуацией, проявляющейся как острыми стрессовыми реакциями, так и симптомами посттравматического стрессового расстройства или тревожно-депрессивного расстройства. Это обусловливает значимость психологического консультирования.</p></sec><sec><title>Цель</title><p>Цель. Исследование эффективности психологического сопровождения у пациентки с наличием мутаций в генах, ассоциированных с наследственным раком молочной железы.</p></sec><sec><title>Методы исследования</title><p>Методы исследования. Описание анамнестических данных и результатов инструментального психодиагностического обследования пациентки, у которой при молекулярно-генетическом тестировании выявлена патогенная мутация в гене CHEK2, чреватая риском развития рака молочной железы в 20–40 % случаев.</p></sec><sec><title>Результаты</title><p>Результаты. Характер эмоционального реагирования в данном случае обусловлен особенностями личной истории — отождествлением представлений о своём возможном заболевании с болезнью матери. Проведённые психологические консультации выполнили задачу купирования острой стрессовой реакции и минимизировали восприятие полученной генетической информации как психотравмирующего события. Кроме того, их результатом явились существенные позитивные сдвиги в формировании адаптивных стратегий совладания со стрессом, осознание собственного психического ресурса и укрепление приверженности составленному плану динамического наблюдения.</p></sec><sec><title>Ключевые выводы</title><p> Ключевые выводы. Пациенты в ситуации выявления мутации в генах наследственного рака молочной железы нуждаются в персонализированном подходе. Разработка критериев психологического сопровождения должна быть направлена на повышение качества жизни пациентов не только при максимально интенсивном реагировании непосредственно после информирования, но и в более долгосрочной перспективе.</p></sec></abstract><trans-abstract xml:lang="en"><sec><title>Relevance</title><p>Relevance. Informing patients about the carriage of a pathogenic mutation may result in a psychologically traumatizing situation, characterized by acute stress reactions, post-traumatic stress disorder symptoms, or anxiety-depressive disorder. This highlights the importance of psychological counseling.</p></sec><sec><title>Objective</title><p>Objective. To investigate the effectiveness of psychological support in a patient with mutations in genes associated with hereditary breast cancer.</p></sec><sec><title>Materials and methods</title><p>Materials and methods. Description of patient's medical history and results of instrumental psychological diagnosis after identifying a pathogenic mutation in the CHEK2 gene, which increases a risk of developing breast cancer to 20–40 % via genetic testing.</p></sec><sec><title>Results</title><p>Results. The nature of emotional response in this case is determined by personal history — identification of ideas about one's possible disease with mother's one. The conducted psychological consultations mitigated acute stress reactions and minimized the perception of received genetic information as a psychologically traumatic event. Furthermore, significant positive shifts were observed in the formation of adaptive stresscoping strategies, awareness of one's own mental resources, and reinforcement of adherence to the dynamic observation plan.</p></sec><sec><title>Conclusion</title><p>Conclusion: Patients in situations involving the identification of mutations in genes associated with hereditary breast cancer require a personalized approach. Development of criteria for psychological support should be aimed at improving patients' quality of life not only in the immediate aftermath of information disclosure but also in the long term.</p></sec></trans-abstract><kwd-group xml:lang="ru"><kwd>рак молочной железы</kwd><kwd>ген CHEK2</kwd><kwd>тревога</kwd><kwd>качество жизни</kwd><kwd>психологическое сопровождение</kwd></kwd-group><kwd-group xml:lang="en"><kwd>breast cancer</kwd><kwd>CHEK2 gene</kwd><kwd>anxiety</kwd><kwd>quality of life</kwd><kwd>psychological support</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">Estimated number of cases in 2020, worldwide, both sexes, all ages. World Health Organization. December, 2020. https://gco.iarc.fr/today/data/factsheets/cancers/20-Breast-fact-sheet.pdf</mixed-citation><mixed-citation xml:lang="en">Estimated number of cases in 2020, worldwide, both sexes, all ages. 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