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Polymorphic GT dinucleotide repeat in the PIK3CA gene and risk of colorectal cancer

Soha Parsafar1, Simin Hematti2, Fateme Ghorbani1

  • 1Department of Biology, Faculty of Sciences, University of Isfahan, Hezar-Jarib, Isfahan, Iran.

Cancer Biomarkers : Section a of Disease Markers
|April 4, 2015
PubMed
Abstract

Insights

Polymorphisms in the PIK3CA gene

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Phosphoinositide 3-kinases (PI3K) signaling regulates crucial cellular functions.
  • Mutations in the PIK3CA gene, encoding the PI3K catalytic subunit, are prevalent in various cancers.

Purpose of the Study:

  • Investigate the association between PIK3CA gene microsatellite (GT dinucleotide repeat) polymorphism and colorectal cancer risk.
  • Determine if specific PIK3CA alleles are predictive markers for colorectal cancer in the Iranian population.

Main Methods:

  • A case-control study was conducted.
  • 103 colorectal cancer patients and 150 controls were recruited from the Iranian population.

Main Results:

  • PIK3CA gene allele distribution in the Iranian population ranges from 13 to 20 GT repeats.
  • Alleles with fewer than 17 GT repeats are associated with a fourfold increased risk of colorectal cancer (OR = 4.0).
  • Individuals with two alleles longer than 16 GT repeats exhibit a significantly lower risk (OR = 0.12).

Conclusions:

  • The polymorphic GT repeat in the PIK3CA gene may serve as a potential predictive marker for colorectal cancer risk.
  • This finding is specific to the Iranian population studied.
Keywords:
Colorectal cancerGT repeatPIK3CApolymorphism

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