Copy Number Variation of PIK3CA Gene in 30 Iranian Women withSporadic Breast Cancer

Introduction: The PI3K pathway is the most frequently enhanced oncogenic pathway in breast cancer. The major genetic alternation of PI3K pathway components is related to PIK3CA gene that encodes P110α protein catalytic subunit of pi3k. Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit α(PIK3CA) has a key role in this signaling pathway. In addition to the PIK3CA mutations, PIK3CA amplification has been shown to lead increased PI3K activity and was reported in various malignancies, including approximately 10% of cases of breast cancer. In order to find out the frequency of CNV (copy number variations) in a sample of Iranian population, we examined the copy number variation of PIK3CA in 30 Iranian women with invasive sporadic breast cancer. Methods/Materials: DNA samples were extracted from paraffin embedded tumortissue blocks and copy number changes were evaluated by MLPA Technique.Results were analyzed by coffalyzer software. Results and Discussion: 5 cases (16%) were detected with duplications in PIK3CA gene. The frequency of gene alterations in our study is close to the other similar studies throughout the world.

Keywords:

PIK3CA , Breast Cancer , Copy Number Variations