Gene-to-gene interactions and the association of TP53, XRCC1, TNFα, HMMR, MDM2 and PALB2 with breast cancer in Kyrgyz females

Background: At present, little is known about the genetic background of breast cancer (BC) in Kyrgyz. Therefore, the aim of this study was to assess gene-to-gene interactions and the contribution of p.Arg72Pro (TP53 gene), p.Gln399Arg (XRCC1 gene), p.Arg194Trp (XRCC1 gene), g.4682G > A (TNFα gene), p.Val353Ala (HMMR gene), c.14 + 309 T > G (MDM2 gene) and g.38444 T > G (PALB2 gene) polymorphic loci in breast cancer (BC) risk in females of Kyrgyz ethnicity. Methods: The case–control study comprised 103 females with histologically verified BC and 102 controls with no cancer. We used polymerase chain reaction-based restriction fragment length polymorphism to genotype polymorphic loci. Results: Gln/Arg heterozygous variant of XRCC1 gene’s p.Gln399Arg locus, as well as combined carriage of Arg/Gln//Arg/Pro of XRCC1/TP53; Arg/Gln//T/T of XRCC1/MDM2; Arg/Gln//G/G and Arg/Gln//G/A of XRCC1/TNFα, Arg/Gln//T/T of XRCC1/PALB2; Arg/Gln//Arg/Arg and Arg/Gln//Arg/Trp for p.Gln399Arg and p.Arg194Trp polymorphic loci of XRCC1 were associated with BC in Kyrgyz females. Conclusion: TP53, XRCC1, TNFα, HMMR, MDM2 and PALB2 genes’ polymorphic site combinations appear to be candidate markers of genetic predisposition to BC in Kyrgyz population and prompt targeted personalized care. © 2020, The Japanese Breast Cancer Society.

Isakova J.T.1 , Vinnikov D. 1, 2, 3 , Kipen V.N.4 , Talaibekova E.T.1 , Aldashev A.A.1 , Aldasheva N.M.1 , Makieva K.B.5 , Semetei Kyzy A. , Bukuev N.M.5 , Tilekov E.A.5 , Shaimbetov B.O.5 , Kudaibergenova I.O.7
Springer Japan
Number of issue
  • 1 Institute of Molecular Biology and Medicine, 3 Togolok Moldo Street, Bishkek, 720040, Kyrgyzstan
  • 2 School of Public Health, Al-Farabi Kazakh National University, 71 Al-Farabi avenue, Almaty, 050040, Kazakhstan
  • 3 Peoples’ Friendship University of Russia (RUDN University), 6 Miklukho-Maklaya street, Moscow, 117198, Russian Federation
  • 4 Institute of Genetics and Cytology of The National Academy of Sciences of Belarus, 27 Akademicheskaya Street, Minsk, 220072, Belarus
  • 5 National Center of Oncology and Hematology, 92, Akhunbaev Street, Bishkek, 720064, Kyrgyzstan
  • 6 Kyrgyz-Russian Slavic University, 44 Kievskaya Street, Bishkek, 720000, Kyrgyzstan
  • 7 Kyrgyz State Medical Academy, 92 Akhunbaev Street, Bishkek, 720020, Kyrgyzstan
Breast cancer; Genes; HMMR; Kyrgyz population; MDM2; PALB2; Polymorphism; TNFα; TP53; XRCC1
Date of creation
Date of change
Short link

Other records

Volkov A.V., Muraev A.A., Zharkova I.I., Voinova V.V., Akoulina E.A., Zhuikov V.A., Khaydapova D.D., Chesnokova D.V., Menshikh K.A., Dudun A.A., Makhina T.K., Bonartseva G.A., Asfarov T.F., Stamboliev I.A., Gazhva Y.V., Ryabova V.M., Zlatev L.H., Ivanov S.Y., Shaitan K.V., Bonartsev A.P.
Materials Science and Engineering C. Elsevier Ltd. Vol. 114. 2020.