Цитологія і генетика 2023, том 57, № 1, 93-96
Cytology and Genetics 2023, том 57, № 1, 76–86, doi: https://www.doi.org/https://doi.org/10.3103/S0095452723010036

Cystathionine β synthase (CBS 844ins68) and cytosolic serine hydroxy-methyltransferase (SHMT1) (C1420T) gene polymorphisms  and the risk of breast cancer in Egyptian population

Badawy Y.E., Saeed H.M. S., Embaby A.M., Mohamed A.F., Rashad R., M.K., Eldeeb M.K.

  1. Faculty of Pharmacy, Alexandria University, Egypt
  2. Department of Biotechnology, Institute of Graduate Studies and Research, Alexandria University, Egypt
  3. Department of Microbiology, Institute of Graduate Studies and Research, Alexandria University, Egypt
  4. Department of Surgery, Medical Research Institute, Alexandria University, Egypt
  5. Department of Pathology, Medical Research Institute, Alexandria University, Egypt
  6. Chemical Pathology Department, Medical Research Institute, Alexandria University, Egypt

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

Цитологія і генетика
2023, том 57, № 1, 93-96

Current Issue
Cytology and Genetics
2023, том 57, № 1, 76–86,
doi: https://doi.org/10.3103/S0095452723010036

Повний текст та додаткові матеріали

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