Projects / Programmes source: ARIS

Moderate and high cancer risk population:counseling, mutational screening and prevention strategies

Research activity

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 
Evaluation (rules)
source: COBISS
Researchers (11)
no. Code Name and surname Research area Role Period No. of publicationsNo. of publications
1.  26175  PhD Bogdan Čizmarević  Oncology  Researcher  2013 - 2017  242 
2.  12023  PhD Marko Hočevar  Oncology  Researcher  2013 - 2017  472 
3.  08007  PhD Srdjan Novaković  Oncology  Researcher  2013 - 2017  499 
4.  26530  PhD Andraž Perhavec  Medical sciences  Researcher  2013 - 2017  141 
5.  04399  PhD Maja Primic-Žakelj  Oncology  Researcher  2013 - 2017  834 
6.  23767  PhD Janez Rebol  Oncology  Researcher  2013 - 2017  239 
7.  23343  PhD Vida Stegel  Oncology  Researcher  2013 - 2017  118 
8.  28388  PhD Petra Škerl  Medical sciences  Researcher  2013 - 2017  95 
9.  15401  PhD Veronika Velenšek  Oncology  Researcher  2013 - 2017  38 
10.  23050  PhD Vesna Zadnik  Public health (occupational safety)  Researcher  2013 - 2017  512 
11.  12767  PhD Janez Žgajnar  Oncology  Head  2013 - 2017  354 
Organisations (3)
no. Code Research organisation City Registration number No. of publicationsNo. of publications
1.  0302  Institute of Oncology Ljubljana  Ljubljana  5055733000  15,816 
2.  0312  University Medical Centre Ljubljana  Ljubljana  5057272000  77,903 
3.  0334  University Medical Centre Maribor  Maribor  5054150000  23,077 
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
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