Publication date: 2022

DOI: 10.24412/2500-2295-2022-4-100-109

The high risk of ovarian cancer is primarily associated with mutations in BRCA1 and BRCA2 genes. However, mutations in these explain only a small proportion of cases. Mutations in other genes are also involved in the disease. As a result of previous exome sequencing of DNA samples from breast cancer Germany patients with clinical signs of a hereditary form of the disease without major mutations in the BRCA1, BRCA2, CHEK2 and NBN genes, potentially pathogenic genetic variants in new breast and ovarian cancer candidate genes were selected. Selected as a result of bioinformatics analysis genes are involved in vital cell signaling pathways such as repair, apoptosis, cell cycle regulation, cell proliferation, migration, differentiation, as well as immune response and inflammation. Recently, biological microarray technologies have been widely used to study the general genetic variability throughout the human genome in order to determine genetic associations with the disease and search for genes involved in the pathogenesis of multifactorial pathologies. The use of such approaches can be very useful for identifying risk markers for the development and severity of diseases. Our case-control study is aimed at researching potentially pathogenic variants selected as a result of exome sequencing of DNA samples from Caucasian patients using microarray technology Fluidigm to assess their contribution to ovarian cancer pathogenesis in Bashkortostan. Most of the researched alleles were found with different frequencies among cases and controls; however, our data indicate that the researched potentially pathogenic variants do not contribute to ovarian cancer pathogenesis in Bashkortostan populations.

Тип: Article