Abstract
1/2012
vol. 11
Original paper
Association between single nucleotide polymorphisms of the DNA mismatch repair gene hMSH2 and postmenopausal breast cancer in Polish women
Przegląd Menopauzalny 2012; 1: 9–13
Online publish date: 2012/02/29
Background : Mutations in the hMSH2 gene predispose to a number of tumorigenic conditions, including breast cancer. hMSH2 encodes a protein in the mismatch repair (MMR) pathway which is involved in the removal of mispairs originating during replication or from damaged DNA.
Material and methods : The genotype analysis of Gly322Asp and Asn127Ser hMSH2 gene polymorphisms for 205 breast cancer patients and 180 controls of cancer-free subjects in the Polish population was performed using the PCR-based restriction fragment length polymorphism (PCR-RFLP).
Results : The distribution of genotypes of the Gly322Asp polymorphism of hMSH2 in patients differed significantly (p < 0.05) from those predicted by the Hardy-Weinberg equilibrium. There were significant differences in the frequencies of alleles between breast cancer subjects and controls (p < 0.05). The Asp/Asp genotype of hMSH2 increased the risk of breast cancer occurrence (OR 2.60, 95% CI 1.03-6.53, p = 0.043).
Conclusion : The results support the hypothesis that the Gly322Asp polymorphism of the hMSH2 gene may be associated with the incidence of sporadic breast cancer in Polish women.
Material and methods : The genotype analysis of Gly322Asp and Asn127Ser hMSH2 gene polymorphisms for 205 breast cancer patients and 180 controls of cancer-free subjects in the Polish population was performed using the PCR-based restriction fragment length polymorphism (PCR-RFLP).
Results : The distribution of genotypes of the Gly322Asp polymorphism of hMSH2 in patients differed significantly (p < 0.05) from those predicted by the Hardy-Weinberg equilibrium. There were significant differences in the frequencies of alleles between breast cancer subjects and controls (p < 0.05). The Asp/Asp genotype of hMSH2 increased the risk of breast cancer occurrence (OR 2.60, 95% CI 1.03-6.53, p = 0.043).
Conclusion : The results support the hypothesis that the Gly322Asp polymorphism of the hMSH2 gene may be associated with the incidence of sporadic breast cancer in Polish women.
Keywords
hMSH2, mismatch repair, breast cancer, gene polymorphism
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