Analysis of polymorphisms / mutations of PTEN, CDKN2A, TP53 genes and of hMSH6 gene in endometrial hyperplasia and carcinoma
Journal Title: Folia Medica Lodziensia - Year 2014, Vol 41, Issue 1
Abstract
Endometrial cancer belongs to the most frequent malignancies in the female genital organs with a growing incidence trend. The molecular changes, which are specific for particular stages of neoplastic transformation or the histopathological type of neoplasm, have not yet been described in any more uniform way. The goal of the undertaken studies was the evaluation of the polymorphisms / mutations of PTEN, CDKN2A, TP53 suppressor genes and of hMSH6 gene of incorrectly paired base-pairs in a group of female patients with endometrial hyperplasia and endometrial cancer. The studies involved forty-four (44) female patients: five (5) cases, despite the fact that clinical inclusion criteria had been met, no hyperplastic features were confirmed in a histopathological analysis. Twenty-six (26) patients with histopathologically confirmed endometrial hyperplasia and thirteen (13) patients with diagnosed carcinoma of uterine body mucosa were added into the study. The sequencing method was used for the identification of mutations / polymorphisms in MSH6, CDKN2A, PTEN and TP53 genes. Two changes were identified in TP53 gene: R175H G>A (CGC>CAC) polymorphism in exon 5 and R213R (CGA>CGG) synonimic change in exon 6 in 15% of the examined patients (2/13 cases of endometrial cancer). Regarding DNA sequence of exon 3 in MSH6 gene, the following polymorphism was found in 29% of the patients: D180D (GAT>GAC). None of the patients demonstrated any changes, either in DNA sequence of CDKN2A gene or in exons 2, 5, 7 and 8 of the PTEN gene.
Authors and Affiliations
Bogdan Kałużewski, Michał Bednarek, Maria Constantinou
Keywords
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