Olga TselousovaBashkir State Medical University, Russian Federation
Title: Analysis of the frequency of BRCA genes mutations in healthy carriers in the industrial region
The long-term chronic impact of the environment of industrial territories on the human body leads to stress of repair systems and disruption of adaptation. BRCA genes are tumor suppressor genes. Their function is to repair DNA damage. Mutations of the BRCA1 and BRCA2 genes have been associated with genetic instability and hypersensitivity. Patients with sporadic breast cancer, as well as healthy carriers of the BRCA mutation, have a reduced ability to repair DNA. BRCA1 and BRCA2 are two highly permeable genes that contribute to various DNA damage pathways, cell cycle and apoptosis and are involved in breast and/or ovarian, pancreatic, prostate and melanoma cancers. It was shown that the total frequency of mutations in the BRCA1 and BRCA2 genes reached 4.22%. The highest frequency 6.18% of healthy BRCA mutation carriers was found in observation zone 1, where petrochemical production enterprises are concentrated. The mutant homozygous genotype of the BRCA2 gene was detected in 3.37% of cases only among residents of the 1st observation area (n=6, p= 0.0002). The risk of mutations in the BRCA2 gene is 6 times higher in residents of observation area 1 (?2=7.75; df 1; p=0.006; OR 6.31; 95%CI 1.44-27.67). Using genetic testing, we identified potential risk groups for effective prevention and a safe strategy to reduce the risk of developing breast cancer.
Dr. Olga Tselousova, associate professor, clinical scientist, geneticist with more than 12 years of life sciences and healthcare experience. She has developed an innovative educational program in the field of nuclear medicine and management of the diagnostic and therapeutic process, awarded the prize for the best practice in the field of medical and pharmaceutical education in Russia.