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

Autor: Kyyal Makieva, Almaz Aldashev, E A Tilekov, V N Kipen, E T Talaibekova, I. Kudaibergenova, B O Shaimbetov, Jainagul Isakova, N. Bukuev, Denis Vinnikov, A Semetei Kyzy, N. M. Aldasheva
Rok vydání: 2020
Předmět:
Adult
0301 basic medicine
PALB2
Population
Breast Neoplasms
Locus (genetics)
03 medical and health sciences
0302 clinical medicine
Asian People
Genotype
Biomarkers
Tumor
Genetic predisposition
Humans
Medicine
Gene Regulatory Networks
Genetic Predisposition to Disease
Pharmacology (medical)
Radiology
Nuclear Medicine and imaging
Breast
Kyrgyzstan
education
Gene
Aged
XRCC1 Gene
education.field_of_study
Tumor Necrosis Factor-alpha
business.industry
Proto-Oncogene Proteins c-mdm2
General Medicine
Middle Aged
Molecular biology
X-ray Repair Cross Complementing Protein 1
030104 developmental biology
Oncology
Genetic Loci
Case-Control Studies
030220 oncology & carcinogenesis
Female
Tumor Suppressor Protein p53
Restriction fragment length polymorphism
Fanconi Anemia Complementation Group N Protein
business
Polymorphism
Restriction Fragment Length
Zdroj: Breast Cancer. 27:938-946
ISSN: 1880-4233
1340-6868
DOI: 10.1007/s12282-020-01092-1
Popis: 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. 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. 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. 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.
Databáze: OpenAIRE
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