Практические аспекты тестирования наследственных мутаций в генах BRCA1/2: позиция Межрегиональной организации молекулярных генетиков в онкологии и онкогематологии
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Ключевые слова

наследственный рак,
мутации,
генетическое тестирование,
BRCA1/2,
лекарственная чувствительность,
диагностика,

Как цитировать

Имянитов, Е. ., Филипенко, М. ., Кекеева , Т. ., & Демидова , И. . (2022). Практические аспекты тестирования наследственных мутаций в генах BRCA1/2: позиция Межрегиональной организации молекулярных генетиков в онкологии и онкогематологии . Вопросы онкологии, 68(3), 260–266. https://doi.org/10.37469/0507-3758-2022-68-3-260-266

Аннотация

Выявление мутаций в генах BRCA1/2 стало неотъемлемым компонентом современной онкологии. Многие существенные аспекты, связанные с диагностикой наследственных опухолевых синдромов, в частности, принципы отбора пациентов для BRCA1/2-тестирования, оптимальный объём молекулярно-генетического анализа, характер медицинских мероприятий в отношении выявленных носителей и т.д. могут вызывать затруднения у практикующих онкологов и являются предметом для дискуссии у специалистов лабораторного профиля. Данная работа является итогом обсуждения различных нюансов BRCA1/2-диагностики, в котором участвовали специалисты с многолетним опытом в области генетики рака, и которое проводилось под эгидой Межрегиональной общественной организации молекулярных генетиков в онкологии и онкогематологии.

https://doi.org/10.37469/0507-3758-2022-68-3-260-266
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