Моногенная предрасположенность к развитию колоректального рака: особенности канцерогенеза и трансляционные аспекты

Цель исследования – обобщение имеющихся сведений о наследственных разновидностях колоректального рака.

Материал и методы. Поиск соответствующих источников производился в системах Medline, Cochrane Library, Elibrary, включались публикации с января 2002 г. по октябрь 2025 г. Из 3 000 найденных исследований 79 были использованы для написания систематического обзора.

Результаты. На долю известных наследственных разновидностей приходится до 4–5 % всех случаев колоректального рака. Помимо семейного аденоматозного полипоза, синдрома Линча и MUTYH-ассоциированного полипоза, можно выделить еще как минимум 15 более редких нозологических форм наследственного рака толстой кишки (РТК). Каждое из этих заболеваний отличается своеобразием клинической картины и биологической природы. Эти особенности обусловливают отличия в подходах к профилактике и лечению разных форм наследственного РТК. В отличие от большинства опухолевых синдромов других локализаций, для которых характерен аутосомно-доминантный тип наследования, некоторые разновидности РТК наследуются по аутосомно-рецессивному механизму. Изучение наследственного РТК способствует разработке новых подходов к терапии спорадических опухолей толстой кишки, имеющих соматические повреждения в тех же генах.

Заключение. В обзоре представлены подробные сведения о генетических причинах, механизмах канцерогенеза и клинических особенностях как хорошо известных, так и недавно открытых типов наследственного РТК.

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