Association of CCR5Δ32 Mutation in Breast Cancer Patients of Pakistan. — ASN Events

Association of CCR5Δ32 Mutation in Breast Cancer Patients of Pakistan. (#357)

Faria Fatima 1 , Abdul Hameed 2 , Naheed Sultan 3 , Abid Azhar 1 , Saima Saleem 1
  1. The Karachi Institute of Biotechnology and Genetic Engineering (KIBGE), University of Karachi, Karachi, SINDH, Pakistan
  2. Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan
  3. Dow University of Health Sciences, Karachi , Pakistan

Introduction/Aim: A cell surface protein called C-C chemokine receptor 5 (CCR5) have preferential attraction of chemokines. It has been reported that CCR5 plays a key role in cancer progression, on the other hand also induces cancer regression. Open reading frame of the CCR5 gene contain a deletion of 32 base pairs (bp) known as CCR5Δ32 leading to the synthesis of deformed protein. This may influence the functionality of receptor. This study investigates the implicated role of CCR5Δ32 mutation in breast cancer development and metastasis. Methodology: In this study blood samples of 500 breast cancer patients were collected. The samples were compared with age and sex matched healthy controls. Polymerase chain reaction (PCR) was used to analyze deletion by sequence specific primers. Heterozygosity/ variations were examined on agarose gel electrophoresis. Results: Breast cancer samples contain two types of allelic mutations. Mutation encompasses a DNA stretch of 32 bp. Regulatory region of the gene contains homozygous insertion (I/I) and heterozygous deletion (I/D). Significant association was found between CCR5Δ32 and breast cancer progression (p<0.001 χ2 =15.015). Conclusion: Increased inflammation leading to the advancement of breast tumor was observed by the malformation of non-functional receptor. This is because of deletion in regulatory region of CCR5 gene open reading frame.

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