Chornobai A., Chornobai M., Myаsoedov S., Sorokin B.

LITERATURE REVIEWS

Scentific 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.

• Anisimov VN. Aging and carcinogenesis: the role of genetc and carcinogenic factors. Abstracts of the Russian Conference on Fundamental Oncology. M.: 2005. р. 4-5.
• Baranov VS, Baranova EV, Ivashchenko IN. The human genome and the genes of «predispositon» (an introducton to predictve medicine). St. Petersburg: Intermedica; 2000. 272 р.
• Belyavskaya VA, Takhauov RM, Freydin MB. Evaluaton of the connecton of polymorphisms of the p53 gene with the risk of development of malignant neoplasms in workers involved in radiaton exposure. Siberian Oncological Journal. 2008;1:45-50.
• Benhamou S. ERCC2/XPD gene polymorphisms and lung cancer: a HuGE review. American Journal of Epidemiology. 2005;161(1):1-14.
• Bindra RS, Glazer PM. Genetc instability and the tumor microenvironment: towards the concept of microenvironmentnduced mutagenesis. Mutat Res 2005;569(1-2):75-85.
• Cherdintseva NV, Sevostyanova NV, Fleming MV. Polymorphism of genes of glutathione-S-transferases in patents with lung cancer: connecton with tumor progression. Molecular medicine. 2006;4:46-52.
• Chissov VI, Aleksandrova LM, Butenko AV. Scientfc bases and perspectve directons of development of clinical oncology. Herald of the Health Ministry. 2010; 4: 68-71.
• Denisov EV, Litvyakov NV, Staheeva MN. Mutatons in the suppressor gene TP53 and their relatonship to the clinical course of breast cancer. Siberian Oncological Journal. 2008;2(26):32-6.
• Gervas PA, Smetannikova NA, Vasilieva MV. Polymorphism of the p53 gene-oncospasor: age-sex characteristcs in the risk of developing lung cancer. Siberian Oncological Journal. 2007;52:37-8.
• Belyavskaya VA, Vardosanidze VK, Smirnova OYu. Genetc status of p53 in stomach cancer: somatc mutatons and codon polymorphism 72. Bulletn of Experimental Biology and Medicine. 2006;141(2):2005-8.
• Han JY, Lee GK, Jang DH. Associaton of p53 codon 72 polymorphism and MDM2 SNP309 with clinical outcome of advanced non-small cell lung cancer. Cancer. 2008;113(9):799-807.
• Guilford P, Hopkins J, Harraway J. E-cadherin germline mutatons in familial gastric cancer. Nature. 1998;392:402-5.
• Goldgar DE, Easton DF, Cannon-Albright LA, Skolnick MH. Systematc populaton-based assessment of cancer risk in frst-degree relatves of cancer probands. J. Natl. Cancer Inst. 1994;86:1600-8.
• Mansurova GN, Ivanina PV, Litvyakov NV. Chromosomal aberratons and polymorphism of excision repair genes in workers of SCC with oncological diseases. Siberian Oncological Journal. 2008;1:84-5.
• Wang ZH, Miao XP, Tan W. Single nucleotde polymorphisms in XRCC1 and clinical response to platn-based chemotherapy in advanced nonsmall cell lung cancer. Ai Zheng. 2004;8:865-8.
• Iacopeta BJ, Soong R, House AK, Hamelin R. Gastric carcinomas with microsatellite instability: clinical features and mutatons to the TGFbeta type II receptor, IGFII receptor, and BAX genes. J. Pathol. 1999;187:428-32.
• Yuan P, Miao XP, Zhang XM. Associaton of the responsiveness of advanced non-small cell lung cancer to platnumbased chemotherapy with p53 and p73 polymorphisms. Zhonghua Zhong Liu Za Zhi. 2006;2:107-10.
• Imai K, Yamamoto H. Carcinogenesis and microsatellite instability: the interrelatonship between genetcs and epigenetcs. Carcinogenesis. 2008;29(P):673-80.
• Kopnin BP, Zaridze DG. Tumor Suppressors and Mutator Genes. Carcinogenesis. Mоsсow; 2004. 125 р.
• Name EN. Molecular pathology of lung cancer: clinical aspects. Practcal oncology. 2006;3:131-7.
• Papadakis ED, Soulitzis NВ, Spandidos DA. Associaton of 53 codon 72 polumorfsm with advanced lung cancer: the Arg allele is preferentally retained in tumours arising in Arg/Pro germline heterozygotes. Britsh Journal of Cancer. 2002;87:1013-8.
• Sullivan A, Syed N, Gasco M, Bergamaschi D, Trigiante G, Atard M, et al. Polymorphism in wildtype p53 modulates response to chemotherapy in vitro and in vivo. Oncogene. 2004;23(19):3328-37.
• Vikhanskaya F, Siddique MM, Lee MK. Evaluaton of the combined effect of p53 codon 72 polymorphism and hotspot mutatons in response to antcancer drugs. Clin. Cancer Res. 2005;12:4348-56.
• Wu X. Bladder cancer predispositon: a multgenic approach to DNA-repair and cell-cyclecontrol genes. American Journal of Human Genetics. 2006;3:464-79.
• Xu Y, Yao L, Ouyang T. p53 Codon 72 Polymorphism Predicts the Pathologic Response to Neoadjuvant Chemotherapy in Patents with Breast Cancer. Clin. Cancer Res. 2005;20:7328-33.
• Seredina TA, Goreva OB, Talaban VO. Research of interrelaton of polymorphism of genes of cytochromes P4502C with efciency of neoadjuvant chemotherapy in patents with breast cancer. Vestnik NSU. Series: Biology, clinical medicine. 2008;6(30):19-24.
• Novik AA, Kamilova TA, Tsygan VN. Introducton to the molecular biology of carcinogenesis. Moscow: GEOTAR-MED; 2004. 224 р.
• Litvyakov NV, Freydin MB. Interrelaton of gene polymorphism with the risk of development of malignant neoplasms under conditons of low-intensity radiaton exposure, in: Ecological Genetcs of Man. 2009;7(4):24-33.

«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

10.29254/2077-4214-2018-1-2-143-46-51