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Polymorphisms and mutations in chromosomal segregation genes in Slovenian patients with gastric cancer

Research activity

Code Science Field Subfield
3.04.00  Medical sciences  Oncology   

Code Science Field
B200  Biomedical sciences  Cytology, oncology, cancerology 
B550  Biomedical sciences  Gastro-enterology 
Keywords
chromosomal segregation, gastric cancer, polymorphisms, mutations
Evaluation (rules)
source: COBISS
Researchers (1)
no. Code Name and surname Research area Role Period No. of publicationsNo. of publications
1.  21395  PhD Petra Hudler  Medical sciences  Head  2008 - 2010  152 
Organisations (1)
no. Code Research organisation City Registration number No. of publicationsNo. of publications
1.  0381  University of Ljubljana, Faculty of Medicine  Ljubljana  1627066  48,203 
Abstract
Gastric cancer is due to high mortality one of major health problems in Slovenia. It is genetically heterogenous disease and although many genes, probably implicated in its pathogenesis, have been studied, the exact mechanisms of carcinogenesis remain unclear. Studies have shown that genetic changes, lifestyle, age and genetic background of individuals are implicated in its development and progression. The last characteristic, genetic background, is largely unknown in Slovenian patients. Recent studies showed that for development of gastric adenocarcinoma are not only responsible changes in gene expression, but also subtle changes in nucleotide sequences of "modifier" genes which do not confer to phenotypic changes. The possible consequeces of modified activity of these genes are chromosomal instability and aneuploidy, which are common in several types of cancer, among them also in gastric cancer. Researchers showed that changes in mitotic genes could be responsible for these cancer characteristics. Therefore, we want to identify polymorphisms in selected genes in Slovenian patients with gastric cancer and to compare this group of patients with healthy control group. We would like to conduct a haplotype analysis, in order to discern information about simultaneous involvement of more polymorphisms in different candidate genes and their possible additive effect on the disease development. We would also like to search for new nucleotide changes and with CGH microarrays determine DNA copy changes in a selected smaller sample. We hope to gain new information on chromosomal instability and the effect of SNPs. The results could be helpful for the improvement of therapies and for prognosis.
Significance for science
The main objective of the research is obtaining new information about the importance of SNPs in genes, which are implicated in cell replication, for gastric cancer development. Detailed analyses of selected genomic SNPs will expand current knowledge of gastric cancer predisposition and could provide information about cancer risk and susceptibility in individuals and predict responses to therapy. Due to slow progression of the disease from early chromosomal instability and aneuploidy to malignant phenotype, the analyses of polymorphisms could provide opportunities for the development of effective diagnostic methods. Mitotic genes could also be targets for development of biological therapeutics, because their inactivity leads to apoptosis and consequently death of malignant cells.
Significance for the country
The analyses of candidate genes and determination of their possible interconnected effect on gastric cancer development, could contribute to better clinical diagnostics. The data could enable better prediction of the disease progression. On the other hand, mitotic genes could also be appropriate targets for the development of biological pharmaceuticals. The samples were obtained from the Institute of Oncology, therefore we will inform the physicians about the results and findings of the study. A direct cooperation of researchers and physicians could enable fast transfer of research findings and knowledge from laboratories to clinical practice; what in the end affects also the quality and efficacy of treatment of cancer patients. We also included two students from undergraduate programme of Biochemistry in the research process. Involvement of students in research is an important contribution to the educational activities and pedagogical process.
Most important scientific results Final report, complete report on dLib.si
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