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

Principal investigator at the Institute of Oncology Ljubljana: Prof. Janez Zgajnar, PhD

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 counselling, 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 counselling 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 carriers for different hereditary cancers in the frame of a National Cancer Registry.

Details about the project are available on the website SICRIS: Moderate and high cancer risk population: counselling, mutational screening and prevention strategies