Molecular analysis of PTEN gene in some Iraqi colorectal cancer patients

Wafaa Sabri Mahood¹*, ²Ibtisam Hammood Naserand AL Musawi, ¹Mohammed Mahdi Jawad

¹College of Education-Ibn AL-Haytham, Baghdad University. ²Research and Training Forensic DNA Centre, AL Nahrain University.

Abstract

PTEN gene is refer to Phosphatase and TENsin homolog deleted on chromosome 10 which is a tumor suppressor gene located at chromosome 10q23.31, encoding for protein that have both lipid and protein phosphatase activities. The essential function of PTEN is to block the PI3K pathway by dephosphorylating phosphatidylinositol (PI) 3,4,5-triphosphate to PI-4,5-bisphosphate thus neutralize PI3K function Genetic alterations of the genes related to PI3K/Akt pathway, including mutations of PI3K and PTEN, facilitate tumor genesis and are common in human cancers. The aim of this study is to assess a molecular analysis of PTEN gene in some colorectal Iraqi patients. Twenty two patients, 11 colorectal cancer and 11 with bowel inflammation from Iraqi patients were screened in exon 7 of PTEN gene using PCR and sequencing analysis. The results showed 23% (3 out of 22) patients were detected mutations. All 45% (10 out of 22) PTEN mutations in 3 colorectal patients were single base substitutions. In this study there are 60% (6 out of 10) transition mutations, 30 % (3out of 10) transversion mutations and 10% (1 out of 10) insertion mutation. In conclusion PTEN gene mutations may cause the etiology of CRC as there were genetic alterations in bowel inflammation and colorectal patients.

Keywords: PTEN; Colorectal cancer; PI3K

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