DOI: 10.18413/2658-6533-2021-7-4-0-2

Рак яичников в составе наследственных онкологических синдромов (обзор)

Яна Валерьевна Валова
Эльвира Тагировна Мингажева
Дарья Симоновна Прокофьева
Руслан Радисович Валиев
Альфия Хаматьяновна Нургалиева
Эльза Камилевна Хуснутдинова

Актуальность: Наследственные формы рака яичников (РЯ) составляют более одной пятой случаев злокачественных новообразований данной локализации. Открытие новых молекулярно-генетических предикторов развития РЯ привело к совершенствованию системы ранней диагностики и терапевтических подходов к лечению, что позволило значительно сократить смертность от данной онкопатологии. Однако существующие системы скрининга охватывают лишь небольшой спектр патогенных вариантов, из-за чего их прогностическая значимость сильно снижается. Цель исследования:На основании изучения данных современной литературы рассмотреть представленность рака яичников в составе наследственных сидромов и оценить вклад генетических факторов в развитие наследственных форм рака яичников. Материалы и методы:Анализ литературных данных проводился по ключевым словам: наследственный рак яичников, синдром рака груди и яичников, синдром Коудена, синдром Линча, синдром Неймегена, атаксия-телеангиэктазия, анемия Фанкони, синдром Пейтца-Егерса за период 1981-2021 гг. в базах данных PubMed, PMC, eLibrary. Результаты:Синдром рака молочной железы и яичников является наиболее распространенной формой семейного РЯ, который в 65–85% случаев обусловлен герминальными мутациями в генах BRCA1/BRCA2. Однако на сегодняшний день известно еще по крайней мере шесть опухолевых синдромов, связанных с наследственным РЯ и обусловленных мутациями в других генах-супрессорах и онкогенах, включая гены MSH6,MLH1,MSH2 (синдром Линча), NBN (синдом Неймегена), АТМ (атаксия-телеангиэктазия), STK11 (синдром Пейтца-Егерса), RAD51С, RAD51D, BRIP1, PALB (анемия Фанкони), PTEN (синдром Коудена). В совокупности герминальные мутации в вышеупомянутых генах ответственны примерно за 15-20% случаев наследственных форм РЯ. Тем не менее спектр патогенных вариантов в этих генах и их вклад в развитие РЯ изучен недостаточно, что усложняет разработку молекулярных диагностических стратегий. Заключение:Разработка и внедрение новейших технологий секвенирования позволили существенно расширить знания о молекулярных механизмах опухолеобразования яичников и выявить множество новых молекулярных маркеров этого процесса. Однако вклад выявленных вариантов в формирование предрасположенности к РЯ изучен недостаточно и требует проведения дальнейших исследований.

Ключевые слова: наследственный рак яичников, синдром рака молочной железы и яичников, синдром Коудена, синдром Линча, синдром Неймегена, атаксия-телеангиэктазия, анемия Фанкони, синдром Пейтца-Егерса.

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Валова ЯВ, Мингажева ЭТ, Прокофьева ДС, и др. Рак яичников в составе наследственных онкологических синдромов (обзор). Научные результаты биомедицинских исследований. 2021;7(4): 330-362. [Valova YV, Mingazheva ET, Prokofieva DS, et al. Ovarian cancer as part of hereditary cancer syndromes (review). Research Results in Biomedicine. 2021;7(4): 330-362. Russian.]. DOI: 10.18413/2658-6533-2021-7-4-0-2

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Учредитель: федеральное государственное автономное образовательное учреждение высшего образования «Белгородский государственный национальный исследовательский университет» (НИУ «БелГУ»). Адрес: 308015, Белгородская область, г. Белгород, ул. Победы, 85.

Издатель: федеральное государственное автономное образовательное учреждение высшего образования «Белгородский государственный национальный исследовательский университет» (НИУ «БелГУ»). Адрес: 308015, Белгородская область, г. Белгород, ул. Победы, 85.

Редакция: главный редактор Михаил Иванович Чурносов, e-mail: RR_MedPharm@bsu.edu.ru, тел.: +7 (4722) 30-14-03.

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