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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">vmireaviz</journal-id><journal-title-group><journal-title xml:lang="ru">Вестник медицинского института «РЕАВИЗ». Реабилитация, Врач и Здоровье</journal-title><trans-title-group xml:lang="en"><trans-title>Bulletin of the Medical Institute "REAVIZ" (REHABILITATION, DOCTOR AND HEALTH)</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2226-762X</issn><issn pub-type="epub">2782-1579</issn><publisher><publisher-name>РЕАВИЗ</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.20340/vmi-rvz.2023.1.CLIN.6</article-id><article-id custom-type="elpub" pub-id-type="custom">vmireaviz-654</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>Клиническая медицина</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>Clinical medicine</subject></subj-group></article-categories><title-group><article-title>Роль выявления мутаций в генах BRСA1,2, СHЕK2, PALB2 при диагностике онкологических заболеваний и определении стратегии терапии</article-title><trans-title-group xml:lang="en"><trans-title>Role of detection of mutations in the BRСA1,2, CHEK2, PALB2 genes in diagnosis of oncological diseases and determination of the therapy strategy</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-9779-5708</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Тороповский</surname><given-names>А. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Toropovskii</surname><given-names>A. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Тороповский Андрей Николаевич, кандидат медицинских наук, генеральный директор Вклад в статью 20 % – определение задач и дизайна исследования</p><p>Ульяновск</p></bio><bio xml:lang="en"><p>Ulyanovsk</p></bio><email xlink:type="simple">director@testgen.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/0000-0001-9762-3383</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Никитин</surname><given-names>А. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Nikitin</surname><given-names>A. G.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Никитин Алексей Георгиевич, кандидат биологических наук, советник по науке Вклад в статью 20 % – анализ данных литературы</p><p>Ульяновск</p></bio><bio xml:lang="en"><p>Ulyanovsk</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/0000-0002-4837-2554</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Соловьев</surname><given-names>А. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Solovyev</surname><given-names>A. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Соловьев Алексей Вячеславович, руководитель отдела ПЦР-разработок Вклад в статью 20 % – анализ данных литературы </p><p>Ульяновск</p></bio><bio xml:lang="en"><p>Ulyanovsk</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/0000-0003-2993-4045</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Хузина</surname><given-names>Р. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Khuzina</surname><given-names>R. M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Хузина Рузалия Маратовна, младший научный сотрудник Вклад в статью 20 % – анализ данных литературы </p><p>Ульяновск</p></bio><bio xml:lang="en"><p>Ulyanovsk</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/0000-0002-8055-1958</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Павлова</surname><given-names>О. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Pavlova</surname><given-names>O. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Павлова Ольга Николаевна, доктор биологических наук, доцент, научный сотрудник; заведующая кафедрой физиологии с курсом безопасности жизнедеятельности и медицины катастроф Вклад в статью 20 % – подведение итогов исследования, формурирование выводов</p><p>Ульяновск;Самара</p></bio><bio xml:lang="en"><p>Ulyanovsk;Samara</p></bio><email xlink:type="simple">casiopeya13@mail.ru</email><xref ref-type="aff" rid="aff-3"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ООО «ЭС ДЖИ»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>"SJI"</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ООО «ТЕСТГЕН»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>TESTGEN</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>ООО «ТЕСТГЕН»;&#13;
Самарский государственный медицинский университет</institution><country>Россия</country></aff><aff xml:lang="en"><institution>TESTGEN;&#13;
Samara State Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2023</year></pub-date><pub-date pub-type="epub"><day>06</day><month>02</month><year>2023</year></pub-date><volume>13</volume><issue>1</issue><fpage>85</fpage><lpage>91</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Тороповский А.Н., Никитин А.Г., Соловьев А.В., Хузина Р.М., Павлова О.Н., 2023</copyright-statement><copyright-year>2023</copyright-year><copyright-holder xml:lang="ru">Тороповский А.Н., Никитин А.Г., Соловьев А.В., Хузина Р.М., Павлова О.Н.</copyright-holder><copyright-holder xml:lang="en">Toropovskii A.N., Nikitin A.G., Solovyev A.V., Khuzina R.M., Pavlova O.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://vestnik.reaviz.ru/jour/article/view/654">https://vestnik.reaviz.ru/jour/article/view/654</self-uri><abstract><p>Рак молочной железы (РМЖ) является наиболее часто встречающимся среди злокачественных новообразований у женщин на территории Российской Федерации. На сегодняшний день важное значение для диагностики и лечения пациентов с РМЖ имеют биологические маркеры, характеризующие индивидуальные особенности опухоли, такие как склонность к метастазированию, гормональная чувствительность. Среди генов, связанных с наследственным РМЖ, различают гены с высокой пенетрантностью (BRСA1, BRСA2, MLH1, MSH2, STK11, PTЕN, TP53 и APС) и гены с умеренной пенетрантностью (СHЕK2, ATM и PALB2). В основном, всё вышеперечисленные гены ответственны за репарацию ДНК путем гомологичной рекомбинации, то есть представляют собой группу HRR-генов (hоmоlоgоus rесоmbinatiоn-rеlatеd gеnеs). Мутации в генах BRСA1, BRСA2 способны инициировать также рак яичников, поджелудочной железы и предстательной железы. Понимание молекулярно-генетической природы онкологического заболевания позволяет применять таргетные препараты для терапии заболевания.</p></abstract><trans-abstract xml:lang="en"><p>Breast cancer (BC) is the most common malignant neoplasm in women in the Russian Federation. Today, biological markers that characterize the individual characteristics of the tumor, such as the tendency to metastasize, hormonal sensitivity, are of great importance for the diagnosis and treatment of patients with breast cancer. Among the genes associated with hereditary breast cancer, there are genes with high penetrance (BRCA1, BRCA2, MLH1, MSH2, STK11, PTEN, TP53 and APC) and genes with moderate penetrance (CHEK2, ATM and PALB2). All of the listed above genes are responsible for DNA repair by homologous recombination, and they represent a group of HRR genes (homologous recombination-related genes). Mutations in the BRCA1 and BRCA2 genes can also initiate cancer of the ovaries, pancreas, and prostate. Understanding of the molecular and genetic nature of an oncological disease allows applying targeted drugs to therapy of a disease.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>рак молочной железы</kwd><kwd>рак яичников</kwd><kwd>рак предстательной железы</kwd><kwd>рак поджелудочной железы</kwd><kwd>BRСA1</kwd><kwd>2</kwd><kwd>СHЕK2</kwd><kwd>PALB2</kwd></kwd-group><kwd-group xml:lang="en"><kwd>breast cancer</kwd><kwd>ovarian cancer</kwd><kwd>prostate cancer</kwd><kwd>pancreatic cancer</kwd><kwd>BRCA1</kwd><kwd>2</kwd><kwd>CHEK2</kwd><kwd>PALB2</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">Исследование проводилось без спонсорской поддержки</funding-statement><funding-statement xml:lang="en">This research received no external funding.</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">Выхристюк Ю.В., Ройтберг Г.Е., Дорош Ж.В., Карасёва Н.В., Акобова Р.А. 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