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Abstract
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Arghavanian Y., M. Adampour, N. Pouladi, N. Bagherlou, M. A. H. Feizi, N.
Dastmalchi, E. Babaei (2020). The single nucleotide polymorphism arg399gln rs25487
in XRCC1 gene is a breast cancer risk factor but is not related to tp53 mutation status -
Genetika, Vol 52, No.3, 867-879.
Genetic changes in DNA repair genes, such as X-ray cross-complementing group1
(XRCC1), can cause modifications in the capacity of damaged DNA repair and affect
the risk of cancer. Several mutations in TP53, which is a tumor suppressor gene, have
been associated with breast cancer. In this study, it is aimed to evaluate the association
of genetic variation in XRCC1rs25487 single nucleotide polymorphism (SNP) with
TP53 mutation and breast cancer risk. In this research, 200 breast cancer women and
200 controls from the Iranian-Azeri population, Iran, were enrolled. Genomic DNA was
extracted from the whole blood of controls patients. PCR-RFLP was carried out to
genotype all participants for XRCC1rs25487SNP. Determination of possible mutations
of TP53 in exons 5,6,7, and 8 were performed on 30 cancerous breast tissues through
sequencing the amplified fragments. Our results of the case-control study indicated that
the GA genotype of XRCC1 gene in rs25487polymorphism has a significantly risk
effect on the breast cancer in the dominant genetic model (OR: 1.580, 95% CI: (1.025-
2.436); p-value =0.049) and also GA genotype of XRCC1 gene in
rs25487polymorphism has a protective effect on breast cancer in overdominant genetic
model (OR: 0.591, 95% CI (0.395-0.886), p-value = 0.014). Furthermore, genotypes ofthis SNP did not associate with the clinical specifications of the patients and P53
mutation status. Sequencing results showed the mutational spectrum of P53 in the
studied cases. According to the results of this study, in some of the genetic models,
XRCC1SNP appears to be a modulator of breast cancer risk in Iranian East-Azerbaijan
women. However, there was no correlation between XRCC1SNP and TP53 mu
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