Neda ShahAbbasi; Sara Ghaffarian
Abstract
Introduction: Nucleotide Excision Repair (NER) is a key mechanism in DNA repair, and the ERCC5 gene, is one of the key components of this pathway, which encodes a special endonuclease with 1168 amino acids. In this research we studied the association of rs920778 C>T single nucleotide polymorphism ...
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Introduction: Nucleotide Excision Repair (NER) is a key mechanism in DNA repair, and the ERCC5 gene, is one of the key components of this pathway, which encodes a special endonuclease with 1168 amino acids. In this research we studied the association of rs920778 C>T single nucleotide polymorphism of ERCC5 gene with the risk of breast cancer in northwest Iran.Material and methods: In this case-control study, the association of ERCC5 (rs920778 C>T) gene polymorphism with breast cancer susceptibility was studied in a statistical population consisting of 100 patients and 100 healthy controls by Tetra-ARMS PCR. Statistical analysis was performed using javastat online statistics package and SPSS V.26.Results: In the case group, the frequency of CC, CT, and TT genotypes were 26.43%, 44.83%, and 28.73%, respectively and they were 24.44%, 15.55%, and 60% for the control group. Statistical analysis showed a significant association between TT genotype (p-value=0.000) (OR=0.269, CI 95%=0.144-0.503) and CT genotype (p-value=0.000) (OR=4.411, CI 95%=2.169-8.967) with breast cancer risk. Also, C and T allele frequency in case group, was 48.85% and 51.14% and them in the control group were 32.22% and 67.77% respectively. There was a significant association between T (p-value=0.001) and C (p-value=0.001) allele frequency and breast cancer risk in Northwestern Iran. There was no significant association between this SNP frequency and patient’s pathological traits.Conclution: These findings suggest that this SNP may contribute to the susceptibility of breast cancer in northwestern Iran.