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ISSN: 1233-9687
Polish Journal of Pathology
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vol. 62

135G>C and 172G>T polymorphism in the 5’ untranslated region of RAD51 and sporadic endometrial cancer risk in Polish women

Beata Smolarz
Dariusz Samulak
Magdalena Michalska
Bożena Góralczyk
Krzysztof Szyłło
Jarosław Lewy
Stanisław Sporny
Grzegorz Kokołaszwili
Marek Burzyński
Hanna Romanowicz-Makowska

POL J PATHOL 2011; 3: 157-162
Online publish date: 2011/11/17
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Background : Despite advanced diagnostic and therapeutic procedures, endometrial cancer (EC) is still responsible for high morbidity and mortality of women. The genetic variability in RAD51 may contribute to the appearance and progression of various cancers including EC.

Aim : We investigated the association of polymorphisms in the DNA repair genes RAD51 135G>C and 172G>T with endometrial cancer risk.

Material and methods : The genotypes of RAD51 135G>C and 172G>T polymorphism were determined by PCR-RFLP methods in endometrial tissue of 240 cancer subjects and 240 healthy subjects who served as controls.

Results : In the present work we demonstrated a significant positive association between the RAD51 C/C genotype and endometrial carcinoma, with an adjusted odds ratio (OR) of 13.0 (p < 0.0001). The distribution of genotypes for 135G>C SNP in endometrial cancer patients vs. controls was: 10% vs. 27% for GG, 13% vs. 58% for GC and 77% vs. 15% for CC genotype, respectively. Variant 135C allele of RAD51 increased the cancer risk (OR = 1.81; 95% CI 0.11-2.93, p = 0.022). The higher risk of EC occurrence was associated with the combined C135C-G172T genotype (OR = 7.69; 95% CI 3.45-17.12).

Conclusion : The results indicated that the polymorphism 135G>C of the RAD51 gene may be positively associated with endometrial carcinoma in the Polish population. Further studies, conducted on a larger group, are required to clarify this point.

RAD51, endometrial cancer, gene polymorphism

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