Gene Polymorphism of DNA Excision Repair in Pathogenesis of Malignancy

DOI

10.2991/ichw-19.2019.18How to use a DOI?

Keywords

gene polymorphism, repair genes, XPC, XPA , ERCC2, breas cancer, Chechen population.

Abstract

The interaction towards a risk of breast cancer in the ethnically homogeneous group of the Chechens and the polymorphism of DNA repair genes was studied: XPC (rs2228000, rs2228001) XPA (rs 1800975) ERCC2 (rs13181; rs1799793). DNA samples taken from venous blood of 241 women diagnosed with breast cancer and of other 300 representatives of a control group were used. According to the study, no significant connection was found between the alleles of the studied polymorphisms of DNA repair and breast cancer genes; the exception is in a minor allele of ERCC2 rs13181 gene (OR = 1.33 with 95 % CI 1.06 - 1.79). However, regression analysis revealed some significant links (p <0.05) between XPC rs2228000 polymorphism and a risk in developing breast cancer OR = 4.80 (95 % CI 1.56 - 14.78) and OR = 8.95 (95 % CI 2.92 - 27.44), respectively. Also, reliable connections were noted for recessive model AA / CA + CC of the XPC gene (rs2228001): OR = 0.63 (95 % CI 0.40 - 0.98). Likewise, some significant associations (p <0.05) were observed in TT / TG + GG recessive models of polymorphic variants of ERCC2 rs13181 OR = 2.39 95 % CI 1.30 - 4.39 and AA / AG + GG rs1799793 (OR = 2.26 95 % CI 1.33 - 3.83). The experiment results showed that recessive GG homozygote raises a possibility towards breast tumor formations (OR = 2.39 with 95 % CI 1.30 - 4.39) and can be used in a diagnostic panel to determine a risk rate in breast cancer in the Chechen population.

Copyright

© 2019, the Authors. Published by Atlantis Press.

Open Access

This is an open access article distributed under the CC BY-NC license (http://creativecommons.org/licenses/by-nc/4.0/).

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TY  - CONF
AU  - P. Dzhambetova
AU  - Z. Bisultanova
AU  - M. Atsayeva
PY  - 2019/10
DA  - 2019/10
TI  - Gene Polymorphism of DNA Excision Repair in Pathogenesis of Malignancy
BT  - Proceedings of the International Conference on Health and Well-Being in Modern Society (ICHW 2019)
PB  - Atlantis Press
SP  - 73
EP  - 76
SN  - 2468-5739
UR  - https://doi.org/10.2991/ichw-19.2019.18
DO  - 10.2991/ichw-19.2019.18
ID  - Dzhambetova2019/10
ER  -