Development of screening algorithm for high breast cancer risk by analysis of spectrum of predisposing mutations and their phenotypic manifestations

Breast and ovarian cancer (BOC) management attracts huge public healthcare sector resources and bears considerable morbidity and mortality. Pathogenic variants in BRCA1/2 and other genes predispose to 15% - 30% of all BOC. Large proportion of affected individuals are at young age. Advances of genetic technologies allows timely identification of those high-risk individuals with potential for early diagnosis and prevention. However, many psychological and molecular aspects must be studied to assess the feasibility of the approach for wider population screening. Riga Stradins University will coordinate the pilotproject with aim to perform BRCA1/2 screening in female age 25-59. Study will help to delineate true population-specific BOC predisposing mutational spectrum as well bring to attention psychological aspects of interventions. Conclusions on the feasibility of the Hereditary breast and ovarian cancer genetic population screening will be made and delivered to involved stakeholders.