TSitologiya i Genetika 2023, vol. 57, no. 1, 93-96
Cytology and Genetics 2023, vol. 57, no. 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

Breast Cancer BC is the extreme most frequent cancer among women. Death from BC is around 15 % of all cancer deaths among women. BC risk factors are classified into non-modifiable risk factors and modifiable risk factors. Excessive studies on folate pathway have been done as a possible mechanism for rising cancer. The present work aimed to study genetic polymorphisms in cystathionine beta-synthase CBS (CBS 844ins68) and the cytosolic serine hydroxy-methyltransferase-1 SHMT1 (C1420T) genes and their expression in patients with breast cancer . Methodology the study included 100 diagnosed breast cancer patient and 100 healthy as a control. Conclusion of this study, results obtained indicated that; there is a significant association between CBS 844ins68 polymorphism and increased risk of breast carcinoma as There was a significant difference in the frequency of the mutant insertion allele between breast cancer patients and control subjects, Also for SHMT1 C1420T SNP, there was a significant difference in the frequency of the mutant T allele between breast cancer patients and control subjects that reflected that SHMT1 C1420T may has a protective effect against breast cancer. On The level of gene expression of CBS and SHMT1 genes, there was insignificant difference between malignant and adjacent normal tissue samples as a control.

Keywords: Breast cancer, CBS (CBS 844ins68), SHMT1 (C1420T), gene expression

TSitologiya i Genetika
2023, vol. 57, no. 1, 93-96

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

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