Preliminary study on the occurrence of pten and PIK3CA gene mutations in endometrial cancer among Malaysian women
- Author:
Subramaniam KS
;
Wong MS
;
Woo Yl
;
Mat Adenan NA
;
Mohamed Z
;
Chung
- Publication Type:Journal Article
- Keywords:
Uterine cancer;
Malaysian;
genetic abnormalities
- MeSH:
Uterine Neoplasms
- From:Journal of University of Malaya Medical Centre
2013;16(1):1-5
- CountryMalaysia
- Language:English
-
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 realtime
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.
- Full text:P020150603371888118021.pdf
