Study of polymorphism of DNA repair genes in the formation of pre-sposition to the development of triple negative breast cancer in women

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Published: Dec 24, 2024
DOI: https://doi.org/10.17072/1994-9952-2024-4-440-450
Keywords:
breast cancer triple negative polymorphism of the APEX1, ATM, hOGG1, XPD, XPG, ADPRT genes

Main Article Content

Ruslan A. Titov
Federal Research Center of Coal and Coal Chemistry, Siberian Branch, RAS, Kemerovo, Russia
Andrey N. Glushkov
Federal Research Center of Coal and Coal Chemistry, Siberian Branch, RAS, Kemerovo, Russia
Anastasia V. Torgunakova
Federal Research Center of Coal and Coal Chemistry, Siberian Branch, RAS, Kemerovo, Russia
Yana A. Zakharova
Federal Research Center of Coal and Coal Chemistry, Siberian Branch, RAS, Kemerovo, Russia
Anna V. Мaruschak
Federal Research Center of Coal and Coal Chemistry, Siberian Branch, RAS, Kemerovo, Russia
Varvara I. Mininа
Federal Research Center of Coal and Coal Chemistry, Siberian Branch, RAS, Kemerovo, Russia

Abstract

The study involved 682 women of Russian nationality living in Kemerovo oblast of Russia, including 213 patients with triple-negative breast cancer and 249 women of a similar age with no signs of cancer. Comparative analysis of polymorphic variants of DNA repair genes APEX1 444T>G (rs1130409), ATM 5557G >A (Ars180151), hOGG1 977C>G (rs1052133), XPD 2251Т>G (rs13181), XPG 3310G>C (rs17655), ADPRT 2285 T>C (rs11610) in patients with triple-negative breast cancer and individuals without cancer living in the same area was performed. Analysis of single-locus effects showed significant associations between the risk of breast cancer and variants of the XPG 3310G>C gene (rs17655) (OR = 0.64, CI: 0.47-0.87, p = 0.004) in the overall group and (OR = 0.68, 95% CI: 0.49 -0.94; p = 0.019) in the non-smoking group, and the XPD 2251T>G gene (OR = 0.30, 95% CI: 0.11-0.78; p = 0.011) in the smoking group. MDR analysis of intergenic interactions showed that the XPD 2251T>G and APEX1 444T>G, XPG 3310G>C and ATM 5557G>A genes closely interact and mutually increase the risk of developing breast cancer in women.

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How to Cite
Titov Р. А., Glushkov А. Н. ., Torgunakova А. В. ., Zakharova Я. А. ., Мaruschak А. В. ., & Mininа В. И. . (2024). Study of polymorphism of DNA repair genes in the formation of pre-sposition to the development of triple negative breast cancer in women. Bulletin of Perm University. Biology, (4), 440–450. https://doi.org/10.17072/1994-9952-2024-4-440-450
Issue
No. 4 (2024): Bulletin of Perm University. BIOLOGY
Section
Генетика

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Author Biographies

Ruslan A. Titov , Federal Research Center of Coal and Coal Chemistry, Siberian Branch, RAS, Kemerovo, Russia

leading engineer of the laboratory of Cytogenetics, leading engineer of the Department of Genetics and Basic Medicine

Andrey N. Glushkov, Federal Research Center of Coal and Coal Chemistry, Siberian Branch, RAS, Kemerovo, Russia

Doctor of Medical Sciences, Professor, Director

Anastasia V. Torgunakova, Federal Research Center of Coal and Coal Chemistry, Siberian Branch, RAS, Kemerovo, Russia

leading engineer of the laboratory of Cytogenetics, leading engineer of the Department of Genetics and Basic Medicine

Yana A. Zakharova, Federal Research Center of Coal and Coal Chemistry, Siberian Branch, RAS, Kemerovo, Russia

Candidate of Biological Sciences, Associate Professor of the Department of Genetics and Basic Medicine, Senior researcher at the Laboratory of Cytogenetics

Anna V. Мaruschak , Federal Research Center of Coal and Coal Chemistry, Siberian Branch, RAS, Kemerovo, Russia

engineer of the laboratory of Cytogenetics

Varvara I. Mininа, Federal Research Center of Coal and Coal Chemistry, Siberian Branch, RAS, Kemerovo, Russia

Doctor of biology, assistant professor, head of the Department of Genetics and Basic Medicine, Chief Researcher of the Cytogenetics Laboratory

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