Polymorphism of DNA repair genes in breast cancer
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Beata Smolarz1, Magdalena M. Michalska2, Dariusz Samulak2,3, Hanna Romanowicz1 and Luiza Wójcik1
1Laboratory of Cancer Genetics, Department of Clinical Pathology, Polish Mothers' Memorial Hospital-Research Institute, Lodz, Poland
2Department of Obstetrics and Gynaecology, Regional Hospital in Kalisz, Poland
3Cathedral of Mother’s and Child’s Health, Poznań University of Medical Sciences, Poznań, Poland
Beata Smolarz, email: firstname.lastname@example.org
Keywords: breast cancer; DNA repair; polymorphism; gene
Received: July 18, 2018 Accepted: December 27, 2018 Published: January 11, 2019
Aim: The aim of the study was to determine the relationship between single nucleotide polymorphisms (SNPs) of DNA repair genes and modulation of the risk of breast cancer. The following SNPs were analysed: XRCC1-Arg399Gln (rs25487), hMSH2-Gly322Asp (rs4987188), XRCC2-Arg188His (rs3218536), XPD- Lys751Gln (rs13181), RAD51--4719A/T (rs2619679) and RAD51--4601A/G (rs5030789).
Material and Methods: The study included n = 600 patients: 300 with breast cancer and 300 healthy controls. The HRM (High-Resolution Melter) technique was applied for polymorphism analysis. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated for each genotype and allele.
Results: Statistically significant correlations were identified between four single nucleotide polymorphisms and the breast cancer risk: XRCC1-Arg399Gln, hMSH2-Gly322Asp, XPD- Lys751Gln and RAD51--4719A/T. Allele XRCC1-Gln (OR 6.37; 95% CI 4.86–8.35, p < .0001), hMSH2-Asp (OR 4.41; 95% CI 3.43–5.67, p < .0001), XPD -Gln (OR 2.56; 95% CI 2.02–3.25, p < .0001) and RAD51-T genes (OR 1.44; 95% CI 1.15–1.80, p = 0.002) strongly correlated with breast carcinoma. No relationship was observed between the studied polymorphisms and the cancer progression grade according to Scarf-Bloom-Richardson classification.
Conclusions: The results implies that polymorphisms of DNA repair genes may be associated with breast cancer occurrence.
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