Abstract

N. K. Seidalin, V. V. Benberin, N. A. Shanazarov, Voshchenkova T. A., Aripzhanova G. O., Zhapparov E. I.

Each tumor is a combination of several dozen to several hundred potentially highly functional somatic mutation variants, along with a much larger number of potentially highly functional germ mutation variants. The combined action of all gene variations leads to the development and clinical diversity of malignancies. Their changes can lead to violations of gene expression and regulation and the appearance of proteins with altered functional properties. Polymorphism at the phenotype level is explained by the simultaneous existence of both a wild-type allele and a series of mutant alleles in the same population. Mutations change the gene product, and as a result, the functions of the gene product are changed. This can lead to changes in the phenotype. Materials and methods: Markers are studied (single-nucleotide polymorphisms) in people with malignant neoplasms breast, associated with a metabolic syndrome, and also in representatives of test groups (malignant neoplasm without metabolic syndrome's), allowing predict association development of disease. The results are received thanks to examining of 250 patients. Results: The association of polymorphism's rs11868035 (p = 0.01481525) based on 5 inheritance models’ polymorphisms with a risk of development breast cancer glands in patients with a metabolic syndrome in Kazakh populations was identified.