Скрининг рака молочной железы у носителей герминальных мутаций. Обзор литературы

Носители герминальных мутаций имеют повышенный риск развития злокачественных новообразований. Наиболее изучены мутации в гене BRCA1/2, приводящие к повышенному риску возникновения рака молочной железы, характеризующегося ранней манифестацией и агрессивным течением. Разработка мер скрининга, направленного на выявление характерных для определенных мутаций опухолей, позволит увеличить шансы пациентов на радикальное лечение, а значит, и уменьшить затраты на лечение запущенных форм злокачественных новообразований. Важно знание корреляции мутаций с особенностями их клинической манифестации, изучение данного вопроса приведет к формированию медико-экономического обоснования дополнительных диагностических процедур.

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