POLYMORPHISM OF GENES AS A CAUSE OF GENETIC RISK FACTORS FOR MALIGNANT NEOPLASMS
About the author:
Chornobai A., Chornobai M., Myаsoedov S., Sorokin B.
Type of article:
At the molecular level, genetic polymorphism manifests itself in the form of small differences in nucleotide sequences of DNA compatible with the normal function of the genome, but leads to certain variations in the structure of proteins. The heterogeneous activity of enzymes involved in their metabolism is determined by differences in the genome level. The connection between GSTM and GSTT genes polymorphism and the risk of development of tumors of the upper respiratory and digestive organs was revealed. The role of polymorphism of GSTM and NAT genes is confirmed by the results of an epidemiological study by chance-control of bladder cancer. A number of studies have noted some increase in the risk of developing breast cancer associated with a certain allelic variant in CYP1B1 in overweight women. The SNEK2 gene (chekpointe kinase) is one of the components of the system of conducting signals from the damaged DNA to various effector. The product of this gene can bind and activate the p53 protein as well as other proteins. At congenital mutations of SNEK2 an increase in the risk of tumors is observed. The BRCA1 and BRCA2 genes encode the amino acid sequences of nuclear proteins involved in the regulation of DNA repair and cell division. In the intact (non-mutated) state, both the gene act as suppressors of the tumor and provide the integrity of the genome. To realize the oncogenic effect it is sufficient that the mutation is present in at least one allele. In the detection of mutation (s) in the BRCA1 and BRCA2 genes in women, the risk of developing breast and / or ovarian cancer is between 50% and 80%. Detection of non-cancer patients with mutations and polymorphisms in genes associated with carcinogenesis can translate these patients into a group at an increased risk of developing the disease.
genetic polymorphism, lung cancer, carcinoma of the digestive system, breast cancer.
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Publication of the article:
«Bulletin of problems biology and medicine» Issue 1 Part 2 (143), 2018 year, 46-51 pages, index UDK 575.174.015.3:618.19-006.6-02