akusherstvoObstetrics, Gynecology and ReproductionАкушерство, Гинекология и Репродукция2313-73472500-3194IRBIS LLC10.17749/2313-7347/ob.gyn.rep.2025.631akusherstvo-2481Research ArticleREVIEW ARTICLESНАУЧНЫЕ ОБЗОРЫMolecular genetic markers of breast cancer: current advances in understanding the etiology, prognostic value, and therapeutic opportunitiesМолекулярно-генетические маркеры рака молочной железы: современные достижения в понимании этиологии, прогностической ценности и терапевтических возможностейhttps://orcid.org/0009-0003-2971-5915ОмаровМ. М.OmarovM. M.

Омаров Махмуд Магомедович.

355017 Ставрополь, ул. Мира, д. 310

Makhmud M. Omarov.

310 Mira Str., Stavropol 355017

mahmyd00000@gmail.comhttps://orcid.org/0009-0009-1735-0692ТрусоваВ. В.TrusovaV. V.

Трусова Владислава Вячеславовна.

355017 Ставрополь, ул. Мира, д. 310

Vladislava V. Trusova.

310 Mira Str., Stavropol 355017

https://orcid.org/0009-0003-8594-5352АгабекянЛ. М.AgabekyanL. M.

Агабекян Лусине Масисовна.

355017 Ставрополь, ул. Мира, д. 310

Lusine M. Agabekyan.

310 Mira Str., Stavropol 355017

https://orcid.org/0009-0009-9207-8131ГазиевИ. Р.GazievI. R.

Газиев Исмаил Рамазанович.

355017 Ставрополь, ул. Мира, д. 310

Ismail R. Gaziev.

310 Mira Str., Stavropol 355017

https://orcid.org/0009-0001-8583-2409АлибековаЗ. М.AlibekovaZ. M.

Алибекова Заира Магомедкаримовна.

355017 Ставрополь, ул. Мира, д. 310

Zaira M. Alibekova.

310 Mira Str., Stavropol 355017

https://orcid.org/0009-0002-1863-5779АйвазянЛ. А.AivazyanL. A.

Айвазян Луиза Агабековна.

355017 Ставрополь, ул. Мира, д. 310

Luiza A. Aivazyan.

310 Mira Str., Stavropol 355017

https://orcid.org/0009-0008-6038-521XСафароваЭ. А.SafarovaE. A.

Сафарова Элла Арамовна.

355017 Ставрополь, ул. Мира, д. 310

Ella A. Safarova.

310 Mira Str., Stavropol 355017

https://orcid.org/0009-0009-9517-9851АджигуловаА. М.AdzhigulovaA. M.

Аджигулова Аина Махмудовна.

355017 Ставрополь, ул. Мира, д. 310

Alina M. Adzhigulova.

310 Mira Str., Stavropol 355017

https://orcid.org/0009-0003-9579-886XДармиловаА. А.DarmilovaA. A.

Дармилова Азарина Анзоровна.

355017 Ставрополь, ул. Мира, д. 310

Azarina A. Darmilova.

310 Mira Str., Stavropol 355017

https://orcid.org/0009-0005-1352-6719ХанмухометоваЭ. К.KhanmukhometovaE. K.

Ханмухометова Эльза Кельдимуратовна.

355017 Ставрополь, ул. Мира, д. 310

Elza K. Khanmukhometova.

310 Mira Str., Stavropol 355017

https://orcid.org/0009-0008-5064-1128ИвановаИ. Р.IvanovaI. R.

Иванова Инна Романовна.

355017 Ставрополь, ул. Мира, д. 310

Inna R. Ivanova.

310 Mira Str., Stavropol 355017

https://orcid.org/0009-0006-5307-5243ПигареваВ. И.PigarevaV. I.

Пигарева Валерия Игоревна.

355017 Ставрополь, ул. Мира, д. 310

Valeriya I. Pigareva.

310 Mira Str., Stavropol 355017

ФГБОУ ВО «Ставропольский государственный медицинский университет» Министерства здравоохранения Российской ФедерацииРоссияStavropol State Medical University, Ministry of Health of the Russian FederationRussian Federation202510092025194575589Copyright © Omarov M.M., Trusova V.V., Agabekyan L.M., Gaziev I.R., Alibekova Z.M., Aivazyan L.A., Safarova E.A., Adzhigulova A.M., Darmilova A.A., Khanmukhometova E.K., Ivanova I.R., Pigareva V.I., 20252025Омаров М.М., Трусова В.В., Агабекян Л.М., Газиев И.Р., Алибекова З.М., Айвазян Л.А., Сафарова Э.А., Аджигулова А.М., Дармилова А.А., Ханмухометова Э.К., Иванова И.Р., Пигарева В.И.Omarov M.M., Trusova V.V., Agabekyan L.M., Gaziev I.R., Alibekova Z.M., Aivazyan L.A., Safarova E.A., Adzhigulova A.M., Darmilova A.A., Khanmukhometova E.K., Ivanova I.R., Pigareva V.I.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.gynecology.su/jour/article/view/2481 

 

Introduction

Introduction. Breast cancer (BC) is the most common oncology pathology that holds a leading place among the causes of cancer death. Early diagnosis is critically important for successful treatment. Current molecular genetic research has revolutionized oncology allowing to classify breast cancer into various subtypes and, thereby, radically changing the approach to therapy.

Aim

Aim: to analyze the literature data on up-to-date information regarding the molecular genetic BC markers and the prospects of their use for BC diagnostics and treatment.

Materials and Methods

Materials and Methods. In accordance with the PRISMA guidelines, a systematic search was conducted in the PubMed/ MEDLINE, eLibrary, and Google Scholar databases using Russian and English keywords: «breast cancer», «early breast cancer», «molecular markers of tumor cells», «chemotherapy», «hormone therapy», «estrogen and progesterone receptors», «triple-negative breast cancer», «neoadjuvant chemotherapy», «complete pathological response», «immunohistochemistry». Peer-reviewed publications in Russian or English containing original data on BC molecular diagnostics were included, with total of 39 publications selected for analysis.

Results

Results. High diagnostic and prognostic value was found for mutations in the BRCA1/2, PIK3CA, TP53, CHEK2, PALB2, and ESR1 genes, as well as for the expression of PD-L1, TIL (tumor-infiltrating lymphocytes), and Foxp3+ regulatory T cell levels. Modern technologies such as liquid biopsy, analysis of circulating tumor cells, and circulating tumor DNA allow for real-time tumor molecular profiling. This markedly expands the potential for personalized treatment strategies. HER2-low subtype and ESR1 mutations require individualized therapeutic approaches.

Conclusion

Conclusion. BC molecular markers have become a cornerstone for accurate diagnosis, risk stratification, and personalized therapy. Despite substantial research advances, the accessibility of molecular diagnostics, standardization of procedures, and integration of innovative technologies into clinical practice remain pressing issues. Systemic support is needed to implement molecular techniques into standard care protocols and ensure their broader application in real-world oncology settings.

Введение

Введение. Рак молочной железы (РМЖ) – наиболее распространенное онкологическое заболевание, занимающее лидирующую позицию среди причин смерти от рака. Ранняя диагностика критически важна для успешного лечения. Современные молекулярно-генетические исследования произвели революцию в онкологии, позволив классифицировать РМЖ на различные подтипы, тем самым кардинально изменив подход к терапии.

Цель

Цель: проанализировать литературные данные, посвященные актуальной информации о молекулярно-генетических маркерах РМЖ и перспективам их использования для диагностики и лечения РМЖ.

Материалы и методы

Материалы и методы. Поиск информации проводился в соответствии с рекомендациями PRISMA в базах данных PubMed/MEDLINE, eLibrary и Google Scholar с использованием ключевых слов на русском и английском языках: «рак молочной железы», «ранний рак молочной железы», «молекулярные маркеры опухолевых клеток», «химиотерапия», «гормонотерапия», «рецепторы эстрогенов и прогестерона», «трижды негативный рак молочной железы», «неоадъювантная химиотерапия», «полный патоморфологический ответ», «иммуногистохимия», «breast cancer», «early breast cancer», «molecular markers of tumor cells», «chemotherapy», «hormone therapy», «estrogen and progesterone receptors», «triple-negative breast cancer», «neoadjuvant chemotherapy», «complete pathological response», «immunohistochemistry». В обзор включались статьи, опубликованные в рецензируемых изданиях, содержащие оригинальные данные по молекулярной диагностике РМЖ. Всего отобрано 39 публикаций.

Результаты

Результаты. Установлена высокая диагностическая и прогностическая значимость мутаций в генах BRCA1/2, PIK3CA, TP53, CHEK2, PALB2 и ESR1, а также экспрессии маркеров PD-L1, TIL и Foxp3+ Treg. Современные технологии, включая жидкостную биопсию, анализ циркулирующих опухолевых клеток и циркулирующей опухолевой ДНК, позволяют формировать молекулярный профиль опухоли в реальном времени. Это существенно расширяет возможности персонализированного подхода к терапии. HER2-low подтип и мутации ESR1 требуют индивидуальных стратегий лечения.

Заключение

Заключение. Современные молекулярные маркеры РМЖ становятся основой точной диагностики, стратификации риска и персонализированной терапии. Несмотря на значительный научный прогресс, остаются актуальными вопросы доступности молекулярной диагностики, стандартизации процедур и внедрения новых технологий в клиническую практику. Необходима системная поддержка для интеграции молекулярных методов в стандартные протоколы лечения.

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The authors declare that there are no conflicts of interest present.