Projects / Programmes
Moderate and high cancer risk population:counseling, mutational screening and prevention strategies
January 1, 2013
- December 31, 2017
| Code |
Science |
Field |
Subfield |
| 3.04.00 |
Medical sciences |
Oncology |
|
| Code |
Science |
Field |
| B007 |
Biomedical sciences |
Medicine (human and vertebrates) |
| Code |
Science |
Field |
| 3.02 |
Medical and Health Sciences |
Clinical medicine |
Researchers (11)
Organisations (3)
Abstract
In hereditary cancer syndromes different highly penetrant genes (for example BRCA and APC genes) are studied. Their mutations cause a high risk of developing a specific cancer or a specific combination of cancers in affected individuals (mutation carriers).
The research group at the Institute of Oncology Ljubljana had focused in the past few years on study of hereditary breast and ovarian cancer, hereditary malignant melanoma and hereditary colorectal cancer. We discovered many families with different BRCA 1/2 mutations and a one mutation specific for Slovenian population. Additionally, we discovered many different mutations in MLH1, MSH2 and APC genes. At the same time the needed infrastructure for a multidisciplinary and a multiprofessional activity was built: molecular laboratory, unit for the genetic counseling, outpatient clinic for follow-up of mutation carriers and other high risk individuals, organization of prophylactic procedures. As a result of our project activities hereditary cancer syndromes were diagnosed in more than 200 Slovenian families. Results of our project activities were published in many important international journals and by this enable recognition of Slovenia as a county with a developed system of detecting these important and dangerous mutations and a proper and on time acting. A highly important result of our work are four elaborated clinical paths which define in details an approach to patients with a high risk of developing cancer. In conclusion, our work on program was a highly successful and as such enabled implementation of its results in a daily clinical practice.
In the future years the research program group will focus its activities in:
continuation and analysis of the genetic counseling and testing of families with hereditary breast and ovarian cancer, melanoma and colorectal cancer;
implementation of a national strategy for testing samples of all primary colorectal cancers and by this increasing the proportion of detected individuals at risk from families with Lynch or FAP syndrome;
determine mutations typical for Slovenian population, their prevalence and penetrance;
update of strategies and specific activities for early detection and prevention of cancer in high risk individuals;
developing a registry of mutation cariers for different hereditary cancers in the frame of a National Cancer Registry.
Significance for science
The expected results of the program will be scientifically important because we will be discovering specific mutation in Slovene population and the specific mutations pattern in Slovene population. These results can only be acquired by the study of our population; results however will be also internationally interesting. Furthermore, work with low penetrance genes in moderately elevated cancer risk families is also expected to be scientifically interesting. During the program specific tests for most common mutation in our population will be discovered. International cooperation will also be intensified.
Significance for the country
The expected results of the research program will be of high importance for Slovenia for various reasons: it will enable the evolution and establishment of the genetic counseling for the most common genetic cancers, the laboratory infrastructure for genetic testing, development of the national registry of the mutation carriers, development of the specific algorithms of prevention methods of families at risk. Taken together it will enable us better care for families and individuals at risk and more rational use of health professionals and equipment. During program we intend to additionally analyze the data fro the mammographic screening program in order to study women at moderate breast cancer risk. The program, which is based on cooperation of several institutions, will be of high importance for the education of devoted health professionals. Particularly important is the cooperation with the University clinical center Maribor for the evolution of genetic counseling. It will also add to the international cooperation of Slovenia.
Most important scientific results
Annual report
2013,
2014,
2015,
final report
Most important socioeconomically and culturally relevant results
Annual report
2013,
2014,
2015,
final report
