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Projects / Programmes source: ARIS

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

Periods
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 
Keywords
Oncology, hereditary cancers, councelling, testing, mutations , variants of unknown clinicall significance, cancer prevention, early cancer diagnosis, cancer registry
Evaluation (rules)
source: COBISS
Researchers (16)
no. Code Name and surname Research area Role Period No. of publicationsNo. of publications
1.  32428  Ana Blatnik  Oncology  Technical associate  2018 - 2021  128 
2.  26175  PhD Bogdan Čizmarević  Oncology  Researcher  2018 - 2023  242 
3.  12023  PhD Marko Hočevar  Oncology  Researcher  2018 - 2023  469 
4.  28272  Vijoleta Kaluza  Oncology  Technical associate  2018 - 2023 
5.  08007  PhD Srdjan Novaković  Oncology  Researcher  2018 - 2023  478 
6.  51414  Tjaša Oblak  Medical sciences  Junior researcher  2018 - 2020  17 
7.  26530  PhD Andraž Perhavec  Medical sciences  Researcher  2018 - 2023  139 
8.  24299  PhD Barbara Perić  Oncology  Researcher  2018 - 2023  154 
9.  04399  PhD Maja Primic-Žakelj  Oncology  Retired researcher  2018 - 2023  834 
10.  23767  PhD Janez Rebol  Oncology  Researcher  2018 - 2023  232 
11.  23343  PhD Vida Stegel  Oncology  Researcher  2018 - 2023  104 
12.  51869  PhD Ksenija Strojnik  Oncology  Researcher  2022 - 2023  76 
13.  28388  PhD Petra Škerl  Medical sciences  Researcher  2018 - 2023  83 
14.  15401  PhD Veronika Velenšek  Oncology  Researcher  2018 - 2023  38 
15.  23050  PhD Vesna Zadnik  Public health (occupational safety)  Researcher  2018 - 2021  494 
16.  12767  PhD Janez Žgajnar  Oncology  Head  2018 - 2023  351 
Organisations (3)
no. Code Research organisation City Registration number No. of publicationsNo. of publications
1.  0302  Institute of Oncology Ljubljana  Ljubljana  5055733000  15,391 
2.  0312  University Medical Centre Ljubljana  Ljubljana  5057272000  76,723 
3.  0334  University Medical Centre Maribor  Maribor  5054150000  22,601 
Abstract
All cancers are characterized by genetic changes that allow the malignant transformation of cells. After occurrence, there are two major groups of cancers: sporadic and the inherited. Inherited predispositions are the subject of research in the research program. In the past 15 years we have developed a comprehensive oncological genetic service at the Institute of Oncology Ljubljana. Due to new insights and technological development further research and development of alternative measures and strategies for at-risk individuals and families is needed. Within the proposed research program we will further develop the oncological genetic counselling in the field of breast/ovarian cancer, colorectal cancer, malignant melanoma and some rare hereditary cancer syndromes. We will use new technologies available (e.g. next generation sequencing) to further study the known and unknown mutations in an expanded set of genes related to hereditary cancers. Additionally, we will focus on the variants of unknown clinical significance (VUS) in the studied genes. Based on our own results specific for the Slovenian population we will adjust the cancer risk reducing and cancer early diagnosis strategies. We will establish a national hereditary cancer registry within the Slovenian Cancer registry. PROGRAM OBJECTIVES Looking ahead, we intend to draw attention to the following specific objectives: 1. 1. continue the genetic counseling and testing for hereditary breast, ovarian, colon, gastric cancer and melanoma and analyze the pattern of pathological variants (mutations) and variants of unknown clinical significance of the investigated genes in Slovenia; 2. 2. using the new technology (Next Generation Sequencing) we intend to further test the samples of families that proved to be negative using Sanger’s method of sequencing (despite the high probability of hereditary forms of cancer) for pathologic variations in the investigated genes; 3. 3. determine the penetrance of Slovenian mutation (IVS 16-2A)G) in the BRCA2 gene 4. 4. develop an algorithm for identification of individuals at moderate-risk for breast cancer, develop customized guidelines of measures and apply them to everyday clinical practice in Slovenia; 5. 5. formally establish a register of hereditary cancers at the state level; establishment of a register with pathological variants (mutations) and variants of unknown clinical significance in Slovenia. The proposed research program will enable a further development of a comprehensive oncological genetic service in the field of hereditary cancers at the national level.
Significance for science
The proposed research program will be important for the future development of the oncology care and the science in the field of oncology in Slovenia. Based on the result of the research program in the past we can conclude that we have successfully established a genetic counselling and testing service and also preventive measures for the affected individuals and families in Slovenia. With the inclusion of a wider set of genes to be tested in the future and further study of the influences of different gene variants we can expect an enhanced applicability of our results for identification of individual at higher risk to develop cancer and development of more personalized measures for the individuals and families at risk. The results of the program will enable further development of the genetic counceling and testing service in the country. Further development of the molecular diagnostic field is of the paramount importance. The proposed research program will enable further introduction and development of new technologies in the field and the continuous education of the needed professionals. The establishment of the national database of the gene mutations pattern is of crucial importance for the planned analysis of the results and their relevance in clinical use in our country. Introduction of new set of genes to be tested is therefore crucial in order to be able to compare our results with the international literature. An important new content of the research program is the detection and analysis of the variants of uncertain clinical significance (VUS). This will allow us to follow up and study individuals and families with VUS and develop effective prevention strategies for these individuals. Our contribution to the science is based on the planned publishing of the results in the scientific literature. Namely, we expect to discover and analyze important gene mutation and VUS involved in the development of cancer – both on the level of the cell and organism. We strongly believe that results specific for the Slovenian population will additionally make our results interesting. We will be able to be among the first to develop (based on our national specific situation) a tailored algorithm of prevention strategies for women with moderate risk for breast cancer. The establishment of the national register of the mutations and VUS of the tested genes will allow us further analyses and constant refinements of the risk reduction strategies in the future. Our work will also promote our international collaborations.
Significance for the country
The proposed program will have and important impact to the Slovenian society as a whole. The most important is the development of tailored risk reducing and prevention strategies for our population. Therefore, we expect the development of more effective and rational approach to the population at risk. This will lead to an improved health system and reduced costs. As 2500 individuals in Slovenia are annually diagnosed with colorectal cancer and breast cancer only, we can estimate (assuming that 5-10% of these cancers are of inherited origin) that the development of tailored approach to these individuals and families will have an important impact to the prevention or early diagnosis for about 125-250 cancer patients annually. Early and widespread testing can further increase these numbers. Another important consequence of the program is the planned continuous education of the professional involved in the program. By increasing the number of professionals and their knowledge we can expect a higher level of the genetic counceling and testing service in the county. Furthermore it will allow Slovenia to keep in contact will the latest development in the field on international level. Additionally, the planned establishment of the register within the Cancer registry of Slovenia will additionally contribute to development of the Cancer registry. The proposed research program will also contribute to the importance of the Institute of Oncology Ljubljana, which is the leading oncology institution in the country and it will also be an important part of the Slovenian Cancer control plan, led by the Institute of oncology. We would also like to emphasize the collaboration with two university clinical centers of Ljubljana and Maribor, which further shows the national relevance of the research program. By this collaboration we can cover the entire country and will allow all inhabitants of Slovenia to have equal access to the oncological genetic service.
Most important scientific results Interim report
Most important socioeconomically and culturally relevant results Interim report
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