Background: Activated PI3K generate PIP3 to trigger different signaling pathways which regulate a number of cellular functions including cell survival, apoptosis, proliferation and motility. Mutations in many cancers were discovered in the gene encoding the PI3K catalytic subunit, PIK3CA.
Objective: To date, there has been no report on the association between polymorphism of PIK3CA gene microsatellites and risk of colorectal cancer. In this study, we investigate the relation between the GT dinucleotide repeat in intron 1 of the PIK3CA gene and colorectal cancer risk.
Methods: A case-control study of 103 colorectal cancer patients and 150 controls was conducted in Iranian people.
Results: The results of our study demonstrate that PIK3CA gene allele distribution in Iranian population varies between 13 and 20 repeats. Here we demonstrate that individuals who carry alleles shorter than 17 GT repeat are at higher risk of developing colorectal cancer (OR = 4.0, p= 0), by contrast, those individuals with two alleles longer than 16 GT repeats are at a significantly lower risk of developing colorectal cancer (OR = 0.12, p= 0).
Conclusion: This result suggests polymorphic GT repeat of PIK3CA gene may be a potential predictive marker of colorectal cancer risk in Iranian population.
Keywords: Colorectal cancer; GT repeat; PIK3CA; polymorphism.