eISSN: 1896-9151
ISSN: 1734-1922
Archives of Medical Science
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vol. 13
Basic research

Polymorphism of MSH2 Gly322Asp and MLH1 –93G>A in non-familial colon cancer – a case-controlled study

Michal Mik
Lukasz Dziki
Katarzyna Malinowska
Radzislaw Trzcinski
Ireneusz Majsterek
Adam Dziki

Arch Med Sci 2017; 13, 6: 1295–1302
Online publish date: 2017/04/03
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Introduction: Our aim was to determine the effect of the single nucleotide polymorphisms (SNP) –93G>A of the MLH1 gene (rs1800734) and Gly322Asp of the MSH2 gene (rs4987188) on the risk of colon cancer (CC) and identify any relationship with clinical factors.

Material and methods: The study included 144 unrelated patients with sporadic CC (71 males; mean age: 61.7 ±11 years) and 151 control patients (74 males; mean age: 63 ±11 years). DNA was extracted from peripheral blood lymphocytes, and genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism.

Results: In our population, the homozygous G/G genotype of the –93G>AMLH1 gene increased the risk of sporadic CC (OR = 2.07; 95% CI: 1.11–3.83; p < 0.02). For A/G and A/A genotypes, the MLH1-93G>A polymorphism was significantly more common in women (p = 0.034). The SNP demonstrated differences in allele distribution according to the location of the tumor, i.e. right vs. left side (p = 0.014), and disease recurrence (p = 0.022). Significant differences were found in the occurrence of Gly322Asp of MSH2 with regard to primary and recurrent disease (p = 0.001).

Conclusions: The –93G>AMLH1 polymorphism plays an important role in evaluating the risk of sporadic CC. It can also be used as an indicator in some patients with left-sided and recurrent tumors. MSH2 Gly322Asp is a potential marker in patients with risk of recurrence.

colorectal cancer, polymorphism, cancer risk, mismatch repair genes

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