INTERACTION BETWEEN POLYMORPHIC VARIANTS IN ТP53, XRCC1, TNFH, HMMR, MDM2,PALB2 GENES AND THEIR CONTRIBUTIONTO THE FORMATION OF A PREDISPOSITION TO BREAST CANCER IN WOMEN OF THE KYRGYZ POPULATION
Vol. 65 No. 3 (2019), ORIGINAL ARTICLES. A. PROTOCOLS OF CLINICAL RESEARCH
Vol. 65 No. 3 (2019)

INTERACTION BETWEEN POLYMORPHIC VARIANTS IN ТP53, XRCC1, TNFH, HMMR, MDM2,PALB2 GENES AND THEIR CONTRIBUTIONTO THE FORMATION OF A PREDISPOSITION TO BREAST CANCER IN WOMEN OF THE KYRGYZ POPULATION

ORIGINAL ARTICLES. A. PROTOCOLS OF CLINICAL RESEARCH
https://doi.org/10.37469/0507-3758-2019-65-3-357-367
Published 01.03.2019
Zhaynagul Isakova
Institute of Molecular Biology and Medicine
Vyacheslav Kipen
Institute of Genetics and Cytology NAS of Belarus
Elnura Talaybekova
Institute of Molecular Biology and Medicine
Kubanych Aytbaev
Institute of Molecular Biology and Medicine
N. Aldasheva
Institute of Molecular Biology and Medicine
Kyyal Makieva
Kyrgyz-Russian Slavic University
Kyzy Semetey
Kyrgyz State Medical Academy
N. Bukuev
Kyrgyz-Russian Slavic University
Ernis Tilekov
Kyrgyz-Russian Slavic University
B. Shaimbetov
Kyrgyz-Russian Slavic University
Indira Kudaybergenova
National Center of Oncology and Hematology
PDF (Русский)

Keywords

TP53
XRCC1
TNF-A
HMMR
MDM2
PALB2
BREAST CANCER
POLYMORPHISM
GENE
ТP53
KYRGYZ POPULATION

How to Cite

Isakova, Z., Kipen, V., Talaybekova, E., Aytbaev, K., Aldasheva, N., Makieva, K., Semetey, K., Bukuev, N., Tilekov, E., Shaimbetov, B., & Kudaybergenova, I. (2019). INTERACTION BETWEEN POLYMORPHIC VARIANTS IN ТP53, XRCC1, TNFH, HMMR, MDM2,PALB2 GENES AND THEIR CONTRIBUTIONTO THE FORMATION OF A PREDISPOSITION TO BREAST CANCER IN WOMEN OF THE KYRGYZ POPULATION. Voprosy Onkologii, 65(3), 357–367. https://doi.org/10.37469/0507-3758-2019-65-3-357-367
ACM ACS APA ABNT Chicago Harvard IEEE MLA Turabian Vancouver

Abstract

Aim: We studied the intergenic interactions and the contribution of polymorphic loci p.Arg72Pro (gene TP53), p.Gln399Arg (gene XRCC1), p.Arg194Trp (gene XRCC1), g.4682G>A (gene TNFa), p.Val353Ala (gene HMMR), p.14+309T>G (gene MDM2), g.38444T>G (gene PALB2) in the formation of predisposition to breast cancer (ВС) in women of Kyrgyz nationality.

Material and method: The study included 103 women of the Kyrgyz ethnic group with the morphologically verified diagnosis of BC and 102 women without cancer and chronic diseases. Genotyping of single-nucleotide polymorphisms (SNPs) was performed using PCR-RFLP. Analysis of the intergenic interactions conducted with MDR 3.0.2 software.

Results: Heterozygous genotype Gln/Arg of gene XRCC1 (ОR=3,15; 95% CI 1,78-5,58), the combination of Arg/Gln // Arg/Pro of genes XRCC1 (p.Gln399Arg) / TP53 (p.Arg72Pro) (OR=3,21; 95% CI 1,21-8,47), Arg/Gln // T/T of genes XRCC1 (p.Gln399Arg) / MDM2 (o.14+309T>G) (OR=3,18; 95% CI 0,99-10,7), Arg/Gln // G/G and Arg/Gln // G/A of genes XRCC1 (p.Gln399Arg) / TNFa (g.4682G>A) (OR=3,84; 95% CI 1,847,90) and (OR=3,91 95% CI 1,29-8,51 respectively), Arg/Gln // T/T of genes XRCC1 (p.Gln399Arg) / PALB2 (p.Thr1100=) (OR=2,92; 95% CI 1,59-5,37), as well as Arg/Gln // Arg/Arg and Arg/Gln // Arg/Trp for polymorphic loci p.Gln399Arg and p.Arg194Trp of gene XRCC1 (OR=2,48; 95% CI 1,12-5,19 and 0R=2,90, 95% CI 1,04-8,12 respectively) were associated with BC in Kyrgyz women.

Conclusions: The results of the present study suggest that combinations of variants of ТP53, XRCC1, TNFa, HMMR, MDM2 и PALB2 genes may contribute to the genetic susceptibility of BC in Kyrgyz women.

https://doi.org/10.37469/0507-3758-2019-65-3-357-367
PDF (Русский)

References

Кипень В.Н., Мельнов С.Б., Смолякова Р.М. Вклад полиморфных вариантов p.P72R (TP53) и p.V353A (HMMR) в генез спорадических случаев рака молочной железы // Проблемы здоровья и экологии. - 2015. - № 4 (46). - С. 40-46.

Кипень В. Н., Мельнов С. Б., Смолякова Р. М. Роль генов XRCC1, XRCC3 и PALB2 в генезе спорадических форм рака молочной железы // Экологическая генетика. - 2015. - №4 (XIII). - С. 91-98.

Пузырев В.П., Кучер А.Н. Эволюционно-онтогенетические аспекты патогенетики хронических болезней человека // Генетика. - 2011. - Т. 47. - № 12. - C. 1573-1585.

Antoniou A.C, Silvia Casadei S., Heikkinen T. et al. Breast-cancer risk in families with mutations in PALB2 // N. Engl. J. Med. - 2014. - Vol. 371. - P 497-506.

Auvinen P., Tammi R., Parkkinen J. et al. Hyaluronan in peritumoral stroma and malignant cells associates with breast cancer spreading and predicts survival // Am. J. Pathol. - 2000. - Vol. 156. - P. 529-536.

Banday M.Z., Balkhi H.M., Hamid Z. et al. Tumor necrosis factor- (TNF- )-308G/A promoter polymorphism in colorectal cancer in ethnic Kashmiri population - A case control study in a detailed perspective // Meta Gene. -2016. - № 9. - P. 128-136.

Chacko P, Rajan B., Joseph T. Polymorphisms in DNA repair gene XRCC1 and increased genetic susceptibility to breast cancer // Breast Cancer Res Treat. - 2005. -Vol. 89. - P. 15-21.

Couch F.J., Shimelis H., Hu C. et al. Associations between cancer predisposition testing panel genes and breast cancer // JAMA Oncol. - 2017. - Vol. 3(9). - P. 1190-1196.

Demokan S., Demir D., Suoglu Y et al. Polymorphisms of the XRCC1 DNA repair gene in head and neck cancer // Pathol. Oncol. Res. - 2005. - Vol. 11(1). - P 22-25.

Fachal, Dunning A.M. From candidate gene studies to GWAS and post-GWAS analyses in breast cancer // Curr. Opin. Genet. Dev. - 2015. - Vol. 30. - P 32-41.

Ferlay J., Soerjomataram I., Dikshit R. et al. Cancer incidence and mortality worldwide: sources, methods and major patterns in GLOBOCAN 2012 // Int. J. Cancer. -2015. - Vol. 136. - P 359-386.

Hall C. Wang C., Lange LA. et al. Hyaluronan and the hyaluronan receptor RHAMM promote focal adhesion turnover and transient tyrosine kinase activity // J. Cell Biol. - 1994. - Vol. 126. - № 2. - P 575-588.

Hanahan D., Weinberg R.A. Hallmarks of cancer: The next generation // Cell. -2011. - Vol. 144. - P. 646-674.

Haupt Y, Maya R., Kazaz A., Oren M. Mdm2 promotes the rapid degradation of p53 // Nature. - 1997. - Vol. 387. - P. 296-299.

Heldin P., Basu K., Olofsson D. et al. Deregulation of hyaluronan synthesis, degradation and binding promotes breast cancer // J. Biochem. - 2013. - Vol. 154. - №5. - P. 395-408.

Hou J., Jiang Y, Tang W., Jia A S. p53 codon 72 polymorphism and breast cancer risk: A meta-analysis // Experimental and Therapeutic Medicine. - 2013. - Vol. 5(5). - P 1397-1402.

Igisinov N., Kokteubaeva N., Kudaibergenova I. Epidemiology of breast cancer in females of reproductive age in Kyrgyzstan // Asian Pac. J. Cancer Prev. - 2005. - Vol.6. - P. 36-39.

Jeong B.S., Hu W., Belyi et al. Differential levels of transcription of p53-regulated genes by the arginine/ proline polymorphism: p53 with arginine at codon 72 favors apoptosis // FASEB J. - 2016. - Vol. 24. - P 1347-1353.

Jin G., Zhao Y, Sun S., Kang H. Association between the tumor necrosis factor alpha gene 308G> A polymorphism and the risk of breast cancer: a meta-analysis // Tumor Biology. -2014. - Vol. 35. - Issue 12. - P. 12091-12098.

Joshi A.M., Budhathoki S., Ohnaka K. et al. TP53 R72P and MDM2 SNP309 Polymorphisms and Colorectal Cancer Risk: The Fukuoka Colorectal Cancer Study // Jpn. J. Clin. Oncol. - 2011. - Vol. 41(2). - P 232-238.

Kalmyrzaev B., Pharoah P. D.P, Easton D. F. et al. Hyaluronan-mediated motility receptor gene single nucleotide polymorphisms and risk of breast cancer // Cancer Epidemiol. Biomarkers Prev. - 2008. - Vol. 17(12). - P 3618-3620.

Kim J.J., Lee S.B., Park J.K., Yoo YD. TNF-induced ROS production triggering apoptosis is directly linked to Romo1 and Bcl-XL // Cell Death and Differentiation. -2010. - Vol. 17. - P 1420-1434.

Knappskog S., Bjornslett M., Myklebust L.M. et al. The MDM2 promoter SNP285C/309G haplotype diminishes Sp1 transcription factor binding and reduces risk for breast and ovarian cancer in Caucasians // Cancer Cell. - 2011. - Vol. 19. - P 273-282.

Lamerdin J.E., Montgomery M.A., Stilwagen S.A. et al. Genomic sequence comparison of the human and mouse XRCC1 DNA repair gene regions // Genomics. - 1995. -Vol. 25(2). - P 547-554.

Lowe S.W., Lin A.W. Apoptosis in cancer // Carcinogenesis. - 2000. - Vol. 21(3). - P 485-495.

Maxwell C.A., Bentez J., Gmez-Bald L. et al. Interplay between BRCA1 and RHAMM regulates epithelial apico-basal polarization and may influence risk of breast cancer // PLoS Biol. - 2011. - Vol. 9. - № 11. - P 1-18.

Michailidou K., Beesley J., Lindstrom S. et al. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer // Nat. Genet. - 2015. - Vol. 47(4). - P. 373-380.

Michele K., Evans M.D., Dan L. et al. PALB2 Mutations and Breast-Cancer Risk // N. Engl. J. Med. - 2014. - Vol. 371. - P. 566-568.

Nag S., Qin J., Srivenugopal KS. et al. The MDM2-p53 pathway revisited // J. Biomed. Res. - 2013. - Vol. 27(4). - P. 254-271.

Maxwell C.A., McCarthy J., Turley E. Cell-surface and mitotic-spindle RHAMM: moonlighting or dual oncogenic functions? // J Cell Science. - 2008. - Vol. 121(Pt 7). -P. 925-932.

Tolg C., Hamilton SR., Morninqstar L. et al. RHAMM promotes interphase microtubule instability and mitotic spindle integrity through MEK1/ERK1/2 activity // J. Biol. Chem. - 2010. - Vol. 285. - № 34. - P. 26461-26474.

Torgovnick A., Schumacher B. DNA repair mechanisms in cancer development and therapy // Frontiers in Genetics. - 2015. - Vol. 6. - P. 157.

Turley E. et al. Signaling properties of hyaluronan receptors // J. Biol. Chem. - 2002. - Vol. 277. - № 7. - P 4589-4592.

Wood R., Mitchell M., Sgouros J., Lindahl T. Human DNA Repair Genes // Science. - 2001. - Vol. 291. - Issue 5507. - P 1284-1289.

Xia B., Sheng Q., Nakanishi, K. et al. Control of BRCA2 Cellular and Clinical Functions by a Nuclear Partner, PALB2 // Mol. Cell. - 2006. - Vol. 22. - P. 719-729.

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

© АННМО «Вопросы онкологии», Copyright (c) 2019