PRELIMINARY STUDY ON THE OCCURRENCE OF PTEN AND PIK3CA GENE.pdfVIP

RESEARCH JUMMEC 2013: 16(1) PRELIMINARY STUDY ON THE OCCURRENCE OF PTEN AND PIK3CA GENE MUTATIONS IN ENDOMETRIAL CANCER AMONG MALAYSIAN WOMEN 1,3 1,3 2,3 2 1 1,3 Subramaniam KS , Wong MS , Woo YL , Mat Adenan NA , Mohamed Z , Chung I 1 2 Departments of Pharmacology and Obstetrics Gynecology, Faculty of Medicine, University of Malaya, Malaysia 3 University of Malaya Cancer Research Institute, University of Malaya, Malaysia Correspondence: Ivy Chung Associate Professor, Department of Pharmacology, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia. Phone: 60-3-7967-6685. Fax: 60-3-7967-4791. E-mail: ivychung@.my ABSTRACT Genetic mutations in endometrial cancer (EC) have been extensively studied in the Western population but not much in Asian cohorts. This study has demonstrated that PTEN and PIK3CA mutations are commonly found in EC among Malaysian women. Following RNA extraction from 20 cancerous and 18 non-cancerous tissues, the presence of mutations in 9 exons of PTEN and 3 exons of PIK3CA genes were detected using real- time PCR, accompanied by High Resolution Melt (HRM) analysis. Sequencing confirmed specificity of each PCR product. The mutations for both genes were detected in the samples with varying frequencies. Notably, all samples expressed mutation of PTEN at exon 7 but none in exon 4. Further analysis demonstrated that strong concurrent mutations occurred between exons 7 of PTEN with exon 20 region 1 of PIK3CA gene (90%). Our data showed mutations are present in EC and not the non-cancerous tissues. Larger samples are being collected to va