Author/Authors :
Subramaniam, KS university of malaya - Faculty of Medicine, Cancer Research Institute - Departments of Pharmacology, Malaysia , Wong, MS university of malaya - Faculty of Medicine, Cancer Research Institute - Departments of Pharmacology, Malaysia , Woo, YL university of malaya - Faculty of Medicine, Cancer Research Institute - Departments of Obstetrics Gynecology, Malaysia , Mat Adenan, NA university of malaya - Faculty of Medicine - Departments of Obstetrics Gynecology, Malaysia , Mohamed, Z university of malaya - Faculty of Medicine - Departments of Pharmacology, Malaysia , Chung, Ivy university of malaya - Faculty of Medicine, Cancer Research Institute - Departments of Pharmacology, Malaysia
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 validate this observation.
