Journal of Modern OncologyJournal of Modern OncologyСовременная онкология1815-14341815-1442LLC Obyedinennaya Redaktsiya26550ArticlesСтатьиResearch ArticleKliniko-geneticheskaya geterogennost' semeynogo raka molochnoy zhelezyКлинико-генетическая гетерогенность семейного рака молочной железыLyubchenkoL NЛюбченкоЛ НGar'kavtsevaR FГарькавцеваР ФГУ Российский онкологический научный центр им. Н.Н.Блохина РАМН1506200462VOL 6, NO2 (2004)ТОМ 6, №2 (2004)676909042020Copyright ©; 2004, Consilium MedicumCopyright ©; 2004, ООО "Консилиум Медикум"2004Consilium MedicumООО "Консилиум Медикум"https://creativecommons.org/licenses/by-nc/4.0https://modernonco.orscience.ru/1815-1434/article/view/26550

В последнее десятилетие решение вопросов этиологии, патогенеза, ранней диагностики и профилактики рака молочной железы (РМЖ) связывают с открытиями в области молекулярной генетики, благодаря чему появилась возможность выявить гены предрасположенности, которые вовлекаются в процесс канцерогенеза при РМЖ. Фундаментальные исследования в этой области существенно изменили и конкретизировали представления о структуре генов, взаимоотношениях ген-белок, ген-признак и генотип-фенотип, что имеет огромное прикладное значение для трактовки клинического, биохимического и морфологического фенотипа РМЖ, а также для прогнозирования развития, доклинической диагностики и профилактики наследственных вариантов РМЖ. Выявление пациентов с онкологически отягощенным анамнезом и синдромальной патологией, последующее квалифицированное медико-генетическое консультирование с использованием ДНК-диагностических методов позволяют разработать индивидуальный подход к ранней диагностике, тактике ведения, профилактике и модификации риска развития наследуемых форм рака.

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