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Projects / Programmes source: ARIS

MOLEKULAR GENETIC PREDISPOSITION FOR DEVELOPMENT OF SOME CANCERS

Research activity

Code Science Field Subfield
3.08.00  Medical sciences  Public health (occupational safety)   
Keywords
molecular genetic predispositions, Medullary Thyroid Cancer, MTC, HNPCC, Hereditary Non-Polyposis Colorectal Cancer, FAP, Familial Adenomatous Polyposis, Familial Breast Cancer
Evaluation (rules)
source: COBISS
Researchers (13)
no. Code Name and surname Research area Role Period No. of publicationsNo. of publications
1.  05367  PhD Anton Cerar  Oncology  Researcher  2003 - 2004  194 
2.  14575  PhD Maja Čemažar  Oncology  Researcher  2003 - 2005  1,438 
3.  09275  PhD Damjan Glavač  Chemistry  Researcher  2003 - 2005  565 
4.  12023  PhD Marko Hočevar  Oncology  Researcher  2003 - 2005  472 
5.  20201  PhD Maja Jerše  Oncology  Researcher  2005  50 
6.  19130  PhD Jera Jeruc  Microbiology and immunology  Researcher  2005  167 
7.  11771  MSc Ksenija Mahkovic-Hergouth  Oncology  Researcher  2003 - 2005  48 
8.  16340  PhD Uroš Potočnik  Microbiology and immunology  Researcher  2003 - 2004  634 
9.  01502  PhD Metka Ravnik-Glavač  Biochemistry and molecular biology  Head  2003 - 2005  268 
10.  01528  PhD Stanislav Repše  Oncology  Researcher  2003 - 2005  309 
11.  14576  PhD Primož Strojan  Oncology  Researcher  2003 - 2005  809 
12.  19205  PhD Zdravko Štor  Oncology  Researcher  2003 - 2005  196 
13.  21598  PhD Maja Zupančič  Microbiology and immunology  Researcher  2003 - 2004  26 
Organisations (3)
no. Code Research organisation City Registration number No. of publicationsNo. of publications
1.  0302  Institute of Oncology Ljubljana  Ljubljana  5055733000  15,789 
2.  0312  University Medical Centre Ljubljana  Ljubljana  5057272000  77,948 
3.  0381  University of Ljubljana, Faculty of Medicine  Ljubljana  1627066  48,729 
Abstract
We will try to identify families with Medullary Thyroid Cancer (MTC), Hereditary Non-Polyposis Colorectal Cancer (HNPCC) and Familial Adenomatous Polyposis (FAP) on the basis of molecular genetic analysis and positive family history. We will compare frequency of constitutional genotypes between breast cancer patients and controls by analysing several polymorphic loci. The role of genotypes will be evaluated with the respect of environmental factors. Hereditary form of MTC will be detected by analysing RET proto-oncogen, since mutations in this gene are responsible for the development of hereditary MTC. The aim of this part of the research is to identify among patients with MTC those with hereditary forms of MTC in the Slovenian population and to offer possibilities for early detection and treatment of the disease to family members who carry the mutation. HNPCC syndrome is connected with mutations in mismatch repair (MMR) genes. Analysis of microsatellite instability and MMR genes will be a strategy for identification and final diagnosis of patients. To clinically presymtomatic carriers of inherited mutation in the family period examinations for early detection and prevention will be offered. Since pentrance is complet, molecular genetic analysis of APC gene in families with FAP enables presymtomatic diagnosis for early detection and treatment of the disease. In breast cancer we will be focused in the analysis of high polymorphic low-penetrance genes in breast cancer patients with at least one first or second degree affected relatives. This iclude the analysis of genes that encode enzymes that metabolize and detoxify enogenous and exogenous substances, enzymes of reactive oxygen metabolism, growth factors, signal transducers, transporters. Comparison of results with the control group will anable us to determine the contribution of alleles of studied genes to increased/decreased susceptibility to breast cancer development.
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