Association of Thr241Met polymorphism of XRCC3 gene with risk of colorectal cancer  in the Polish population

Bartosz Mucha; Karolina Przybylowska-Sygut; Adam Janusz Dziki; Lukasz Dziki; Andrzej Sygut; Ireneusz Majsterek

doi:10.5114/pjp.2013.38137

eISSN: 2084-9869
ISSN: 1233-9687

Polish Journal of Pathology

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3/2013
vol. 64

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abstract:

Association of Thr241Met polymorphism of XRCC3 gene with risk of colorectal cancer in the Polish population

Bartosz Mucha

,

Karolina Przybylowska-Sygut

,

Adam Janusz Dziki

,

Lukasz Dziki

,

Andrzej Sygut

,

Ireneusz Majsterek

Pol J Pathol 2013; 64 (3): 185-190

DOI: https://doi.org/10.5114/pjp.2013.38137

Online publish date: 2013/10/21

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DNA double strand breaks (DSBs) are the most dangerous lesions which can lead to carcinogenesis. Homologous recombination (HR) is an important pathway responsible for maintaining genome integrity through repair of DSBs. Single nucleotide polymorphism (SNP) is an essential source of genetic variation whose presence in genes involved in HR may have a crucial role in modulation of DNA repair capacity.

This case-control study was designed to evaluate the influence of XRCC3 gene Thr241Met polymorphism on CRC risk and progression among Polish population. Genotyping was performed by RFLP-PCR (restriction length fragment polymorphism). The subject of our study was consist of 194 patients with CRC and 204 cancer-free individuals who were age and sex-matched as a control group.

Obtained genotype distributions in controls as well as patients fit to the Hardy-Weinberg expectations. Odd ratio analysis indicates diminished risk for heterozygous model and Met allele. Comparison of patients with noninvasive and advanced stage of CRC did not imply any statistical significance.

Our results suggest that Thr241Met XRCC3 gene polymorphism might be regarded as CRC potential molecular marker. Nevertheless, that hypothesis needs to be confirmed by subsequent studies.

keywords:

Association of Thr241Met polymorphism of XRCC3 gene with risk of colorectal cancer in the Polish population

Bartosz Mucha , Karolina Przybylowska-Sygut , Adam Janusz Dziki , Lukasz Dziki , Andrzej Sygut , Ireneusz Majsterek

colorectal cancer, homologous recombination, XRCC3, DNA double strand breaks

Bartosz Mucha

,

Karolina Przybylowska-Sygut

,

Adam Janusz Dziki

,

Lukasz Dziki

,

Andrzej Sygut

,

Ireneusz Majsterek