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1/2012
vol. 11 abstract:
Original paper
Association between single nucleotide polymorphisms of the DNA mismatch repair gene hMSH2 and postmenopausal breast cancer in Polish women
Dariusz Samulak
,
Hanna Romanowicz-Makowska
,
Beata Smolarz
,
Ireneusz Połać
,
Marek Zadrożny
,
Bogusław Westfal
,
Stanisław Sporny
Przegląd Menopauzalny 2012; 1: 9–13
Online publish date: 2012/02/29
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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. keywords:
hMSH2, mismatch repair, breast cancer, gene polymorphism |
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