In Poland, breast cancer poses an alarming health issue, affecting nearly 20,000 women annually. It is the second most common cause of cancer-related deaths, surpassed only by lung cancer. Ovarian cancer, although less common, is characterized by a very high mortality rate – 2,700 cases per year. One of the key factors increasing the risk of these cancers is the hereditary presence of mutations in the BRCA1 and BRCA2 genes, and others associated with DNA damage repair.
BRCA1 and BRCA2 genes play a crucial role in the DNA damage repair mechanism through homologous recombination (HR). Mutations in these genes prevent effective repair of such damage, thereby promoting the rapid development of cancer.
The project, funded by the National Science Centre under grant OPUS 25 No. 2023/49/B/NZ5/03835, aims to develop efficient diagnostic tools. These tools will enable the prediction of cancer development and early diagnosis when the prognosis is favourable. To achieve this, we plan to use an innovative approach – examining the quantity of microRNA in the blood serum of patients.
Previous studies have shown that germline (inherited) mutations in BRCA1/2 are reflected in the expression of microRNAs in peripheral blood, opening the way to identifying individuals with a DNA repair defect using miRNA-based biomarkers. The expression of specific microRNAs is also associated with the presence of tumours, including ovarian cancer. The question remains as to how microRNA can be used as potential diagnostic or predictive biomarkers.
The project involves a two-stage study, beginning with the analysis of microRNA expression in healthy women with and without BRCA1/2 mutations. The first stage includes confirming whether microRNA expression is associated with the presence of these mutations, with calibration to the qPCR method, allowing for the development of a clinically useful and cost-effective diagnostic test. The second stage involves assessing the biomarker over time in a cohort of patients at high genetic risk or with a familial predisposition to cancer. The goal is to verify the predictive capabilities of the developed test.
More about this project can be read here.