Screening of Rare Genetic Variants of mtDNA Genes in Patients With Gastric Cancer and Healthy Donors From the Republic of Bashkortostan

Gastric cancer (GC) is one of the leading causes of cancer death in the world (http://globocan.iarc.fr). In the Russian Federation, cancer of this localization ranks sixth among all malignant tumors in terms of incidence and second in mortality. Our study used a sample consisting of DNA samples isolated from the peripheral venous blood of patients with gastric cancer and healthy donors aged 21 to 88 years living in the Republic of Bashkortostan. The group of patients consisted of 156 people. As a control, a group of unrelated healthy donors without any gastrointestinal diseases was studied, consisting of 307 people of various ethnicities also living in the Republic of Bashkortostan. One of the promising areas is the study of mitochondrial dysfunction as a consequence of changes in energy metabolism, which are one of the signs of malignancy (Lee et al., 2014). In our study, we screened for known mutations of mtDNA molecules in patients with gastric cancer. The results of our studies show that all three loci we examined - a 4977 bp deletion located in the 8483-13459 mtDNA region, single nucleotide substitutions 15767 C>G in the CYB gene and 7080 T>C in the COI gene - most likely do not play a role as driver events in the occurrence of gastric cancer in individuals of Russian, Tatar and Bashkir ethnicity from the Republic of Bashkortostan.