Однонуклеотидные полиморфизмы: роль в развитии рака молочной железы и перспективы клинического применения

Однонуклеотидные полиморфизмы: роль в развитии рака молочной железы и перспективы клинического применения

Автор: Батенева Е.И., Мещеряков А.А., Крохина О.В., Петровский А.В., Рагимов А.А., Кадочникова В.В., Трофимов Д.Ю., Любченко Л.Н.

Журнал: Злокачественные опухоли @malignanttumors

Рубрика: Фундаментальная онкология и экспериментальная медицина

Статья в выпуске: 2 (13), 2015 года.

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Введение: Рак молочной железы - самое распространённое онкологическое заболевание у женщин во всём мире. Генетическая предрасположенность к раку молочной железы гетерогенна, обусловлена мутациями с высокой и средней пенетрантностьюи однонуклеотидными полиморфизмами с низкой пенетрантностью. Точная оценка генетического риска позволит персонализировать программы профилактики и лечения, а также снизить смертность от рака молочной железы. Задачи исследования: Определить частоты встречаемости однонуклеотидных полиморфизмов rs2981582 (FGFR2), rs3817198 (LSP1), rs889312 (5q11), rs13281615 (8q24), rs13387042 (2q35),rs3803662 (16q12) в неотобранной выборке больных раком молочной железы и у здоровых женщин в российской популяции, выявить возможные ассоциации указанных полиморфизмовс развитием рака молочной железы. Материал и методы: Обследованы неотобранные выборки больных раком молочной железы (963 человека), здоровыхженщин-доноров крови (591 человек). Материалом служила цельная периферическая кровь, генотипирование проведено методом ПЦР в режиме реального времени с анализом кривых плавления с использованием оригинальных олигонуклеотидов. Результаты: Частоты минорных аллелей однонуклеотидных полиморфизмов составили 41,6±1,1% и 36,2±1,1% для rs2981582 (FGFR2), 35,3±1,1% и 34,3±1,1% для rs3817198 (LSP1), 39,3±1,1%и 43,7±1,1% для rs13387042 (2q35), 27,7±1,0% и 27,8±1,0% для rs889312 (5q11), 46,2±1,1% и 44,7±1,1% для rs13281615 (8q24),35,7±1,1% и 29,9±1,1% для rs3803662 (16q12) в группах больных РМЖ и здоровых женщин, соответственно. Достоверные ассоциации с развитием рака молочной железы выявлены для полиморфизмов

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Рак молочной железы, наследственная предрасположенность, однонуклеотидный полиморфизм

Короткий адрес: https://sciup.org/14045528

IDR: 14045528

Список литературы Однонуклеотидные полиморфизмы: роль в развитии рака молочной железы и перспективы клинического применения

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  • Sawyer S., Mitchell G., McKinley J., et al. A role for common genomic variants in the assessment of familial breast cancer//J. Clin.Oncol.-2012.-V. 30.-P. 4330-4336
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