Page 111 - EJMO-9-1

Eurasian Journal of Medicine and
Oncology
Genomics of breast cancer in Western Kazakhstan

Table 11. Characteristics of the 28 identified polymorphisms associated with breast cancer risk in women from the Aktobe region
No Polymorphism Gene Gene name Association Clinical significance References
ID
1 Rs55886062 DPYD Dihydropyrimidine dehydrogenase No Response to fluoropyrimidine 22
2 Rs3918290 DPYD Dihydropyrimidine dehydrogenase Yes Toxicity of capecitabine 23
3 Rs12721655 CYP2B6 Cytochrome P450 2B6 No Toxicity of doxorubicin and 24
cyclophosphamide
4 Rs4987117 BRCA2 BReast CAncer 2 No BC 25
5 Rs2229774 RARG Retinoic acid receptor gamma Yes Anthracycline-induced cardiotoxicity 26
in children with cancer
6 Rs11203289 SDHB Succinate dehydrogenase No Cowden syndrome 27
7 Rs16942 BRCA1 BReast CAncer 1 No BC 28
8 Rs34945627 TNFRSF11A Representative 11a of the TNF receptor No BC 29
superfamily
9 Rs11571747 BRCA2 BReast CAncer 2 No Pancreatic cancer 30
10 Rs137852576 AR Androgen receptor No BC in men 31
11 Rs11571833 BRCA2 BReast CAncer 2 Yes BC 32
12 Rs80359062 BRCA1 BReast CAncer 1 No BC in men 33
13 Rs3218536 XRCC2 X-ray repair cross-complementing No BC 34
group 2
14 Rs80357382 BRCA1 BReast CAncer 1 No BC 35
15 Rs28934577 TP53 Tumor protein p53 No BC 36
16 Rs2981582 FGFR2 Fibroblast growth factor receptor 2 Yes BC 37
17 Rs137852985 BRIP1 C-terminus helicase 1 interacting with No BC 38
BRCA1
18 Rs1800057 ATM Serine/threonine kinase ATM Yes Multiple cancers 39
19 Rs3092856 ATM Serine/threonine kinase ATM No BC 40
20 Rs1800058 ATM Serine/threonine kinase ATM No BC 41
21 Rs1799950 BRCA1 BReast CAncer 1 No BC 42
22 Rs1799954 BRCA2 BReast CAncer 2 No BC 43
23 Rs889312 MAP3K1 Mitogen-activated protein kinase kinase Yes BC 44
kinase 1
24 Rs1787991 CHEK2 Checkpoint kinase 2 No BC 45
25 Rs3918242 MMP‑9 Matrix metalloproteinase-9 No Stroke 46
26 Rs62625308 BRCA1 BReast CAncer 1 No BC 36
27 Rs757229 GP×4 Phospholipid hydroperoxide No Male infertility 37
glutathione peroxidase
28 Rs7895676 FGFR2 Fibroblast growth factor receptor 2 Yes BC 38
Abbreviations: ATM: Ataxia-telangiectasia mutated; BC: breast cancer; TNF: Tumor necrosis factor.

TT and TC genotypes, as well as the dominant model, were Our research found that the Rs2229774 polymorphism
significantly correlated with BC development (OR = 1.21, of the RARG gene (a common variation) increased the
95% CI: 1.05 – 2.27; OR = 1.81, 95% CI: 1.24 – 2.73; risk of BC in the codominant model for the A/G genotype
OR = 2.15, 95% CI: 1.25 – 5.31, respectively). Additional (OR = 19.47, 95% CI: 10.56 – 35.91, P = 0); in the dominant
studies have sought to validate certain SNPs in the Russian model for the A/G-A/A genotypes (OR = 18.44, 95%
population. In particular, Boyarskikh and colleagues 14 CI: 10.09 – 33.7, P = 0); and the overdominant model for
identified an association between the FGFR2 Rs2981582 the A/G genotype (OR = 19.62, 95% CI: 10.64 – 36.17,
polymorphism and BC development in Western Siberia, P = 0). In addition, the Rs137852985 polymorphism
with an OR of 1.46 (95% CI: 1.30 – 1.62, P = 2×10 ). (a common variation) showed an increased risk of BC in
–6

Volume 9 Issue 1 (2025) 103 doi: 10.36922/ejmo.5385