Genetics polymorphism in DNA repair genes by base excision repair pathway (XRCC1) and homologous recombination (XRCC2 and RAD51) and the risk  of breast carcinoma in the Polish population

Hanna Romanowicz; Beata Smolarz; Jakub Baszczyński; Marek Zadrożny; Andrzej Kulig

eISSN: 2084-9869
ISSN: 1233-9687

Polish Journal of Pathology

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4/2010
vol. 61

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abstract:

Genetics polymorphism in DNA repair genes by base excision repair pathway (XRCC1) and homologous recombination (XRCC2 and RAD51) and the risk of breast carcinoma in the Polish population

Hanna Romanowicz

,

Beata Smolarz

,

Jakub Baszczyński

,

Marek Zadrożny

,

Andrzej Kulig

Pol J Pathol 2010; 4: 206–212

Online publish date: 2011/01/13

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Background : Several polymorphisms in the DNA repair gene have been extensively studied in the association with various human cancers such as breast cancer.

Material and methods : We investigated the association of polymorphisms in the DNA repair genes XRCC1-Arg399Gln, XRCC2-Arg188His and RAD51-135G/C with the breast cancer risk. Genotypes were determined by PCR-RFLP assays in 220 patients with breast cancer and 220 age-matched healthy controls.

Results : Our results demonstrated a significant positive association between the XRCC1 399Gln/Gln homozygous genotype and breast carcinoma, with an adjusted odds ratio (OR) of 2.08 [1.08-3.98]. The 399Gln allele variant was also associated with type I breast cancer (OR = 1.41 [0.98-2.01], p = 0.034). The distributions of genotypes and alleles of the genes XRCC2 and RAD51 polymorphism were not significantly associated with the different stages of breast carcinoma (p > 0.05).

Conclusion : These results suggest that 399Gln allele of XRCC1 Arg399Gln may be a risk factor for breast cancer in the Polish population.

keywords:

Genetics polymorphism in DNA repair genes by base excision repair pathway (XRCC1) and homologous recombination (XRCC2 and RAD51) and the risk of breast carcinoma in the Polish population

Hanna Romanowicz , Beata Smolarz , Jakub Baszczyński , Marek Zadrożny , Andrzej Kulig

XRCC1, XRCC2, RAD51, breast cancer, gene polymorphism

Hanna Romanowicz

,

Beata Smolarz

,

Jakub Baszczyński

,

Marek Zadrożny

,

Andrzej Kulig