РЕЗЮМЕ. Рак молочної залози (РМЗ) – це надзвичайно поширене онкологічне захворювання серед жінок. Летальні випадки, спричинені РМЗ, становлять близько 15 % всіх смертей жінок від раку. Фактори ризику РМЗ поділяють на незмінні та змінні. Було проведено велику кількість досліджень щодо фолатного шляху як можливого механізму виникнення раку. Мета цієї роботи полягала у вивченні генетичних поліморфізмів у генах цистатіонін бета-синтази CBS (CBS 844ins68) та цитозольної серин-гідроксиметилтрансферази-1 SHMT1 (C1420T) та їхнього вираження у пацієнтах із раком молочної залози. Методологія дослідження передбачала участь 100 пацієнток із діагнозом раку молочної залози та 100 здорових жінок в якості контрольної групи. Результати дослідження показали значний зв’язок між поліморфізмом CBS 844ins68 і вищим ризиком карциноми молочної залози. Також існують суттєві відмінності між пацієнтками з раком молочної залози та здоровою контрольною групою щодо частоти вставленого мутантного алеля. Що стосується SHMT1 C1420T SNP, було виявлено суттєву різницю між пацієнтками та контрольною групою щодо частоти мутантного Т алеля. Це означає, що SHMT1 C1420T може мати захисний вплив проти виникнення раку молочної залози. На рівні експресії генів CBS та SHMT1 було виявлено незначну різницю між зразками злоякісних та прилеглих нормальних тканин, використаних в якості контролю.
Ключові слова: рак молочної залози, CBS (CBS 844ins68), SHMT1 (C1420T), експресія генів
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