<i>Association between single nucleotide polymorphisms of the DNA mismatch repair gene</i> hMSH2 
<i>and postmenopausal breast cancer in Polish women</i>

Dariusz Samulak; Hanna Romanowicz-Makowska; Beata Smolarz; Ireneusz Połać; Marek Zadrożny; Bogusław Westfal; Stanisław Sporny

eISSN: 2299-0038
ISSN: 1643-8876

Menopause Review/Przegląd Menopauzalny

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1/2012
vol. 11

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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:

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

hMSH2, mismatch repair, breast cancer, gene polymorphism

***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