Pathway-Affecting Single Nucleotide Polymorphisms (SNPs) in RPS6KA1 and MBIP Genes are Associated with Breast Cancer
Ghadah Shareefi1, Alaa Nabil Turkistani1, Ahmed Alsayyah2
1Department of Microbiology, College of Medicine, Imam Abdulrahman Bin Faisal University (IAU), Dammam, Saudi Arabia.
Asian Pacific Journal of Cancer Prevention : APJCP
|July 27, 2020
Summary
Genetic variations influence cancer development. This study identified specific single nucleotide polymorphisms (SNPs) associated with increased breast cancer risk in Saudi women, highlighting their potential role in risk assessment.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- Genetic mutations and polymorphisms are crucial in cancer development by disrupting cell cycle, DNA repair, and apoptosis pathways.
- Single nucleotide polymorphisms (SNPs) are investigated for their potential to increase breast cancer risk.
Purpose of the Study:
- To genotype specific SNPs (rs3168891, rs2899849, rs2230394, rs2229714) in Saudi breast cancer patients and controls.
- To determine the association of these SNPs and their haplotypes with breast cancer risk in the Eastern Province of Saudi Arabia.
Main Methods:
- Genotyping of four selected SNPs using TaqMan assay in 81 breast cancer patients and 100 healthy controls.
- Comparison of allele and genotype distributions between cases and controls.
Main Results:
- The G allele of SNP rs3168891 and the T allele of SNP rs2229714 were significantly associated with increased breast cancer risk.
- SNP rs2899849 in the ITGB1 gene showed no association with breast cancer risk in this population.
- Haplotype analysis identified three risk haplotypes (TGGT, TGTA, GATA) that increase breast cancer risk.
Conclusions:
- Three previously untested SNPs are associated with an increased risk of breast cancer in the Saudi population.
- These findings can contribute to breast cancer risk assessment studies.
- The study demonstrates the utility of in-silico prediction for identifying disease risk factors, emphasizing the need for clinical validation.
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