Projects / Programmes
MOLEKULAR GENETIC PREDISPOSITION FOR DEVELOPMENT OF SOME CANCERS
| Code |
Science |
Field |
Subfield |
| 3.08.00 |
Medical sciences |
Public health (occupational safety) |
|
molecular genetic predispositions, Medullary Thyroid Cancer, MTC, HNPCC, Hereditary Non-Polyposis Colorectal Cancer, FAP, Familial Adenomatous Polyposis, Familial Breast Cancer
Researchers (13)
Organisations (3)
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.
