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.

Authors
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
Journal
Publisher
Springer Japan
Number of issue
5
Language
English
Pages
938-946
Status
Published
Volume
27
Year
2020
Organizations
  • 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
Keywords
Breast cancer; Genes; HMMR; Kyrgyz population; MDM2; PALB2; Polymorphism; TNFα; TP53; XRCC1
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