4.4 Article

BLM and RAD51 Genes Polymorphism and Susceptibility to Breast Cancer

Journal

PATHOLOGY & ONCOLOGY RESEARCH
Volume 19, Issue 3, Pages 451-459

Publisher

SPRINGER
DOI: 10.1007/s12253-013-9602-8

Keywords

Breast cancer; Gene polymorphism; BLM gene; RAD51 gene; DNA double-strand breaks

Funding

  1. Ministry of Science and Higher Education [N N301 289237]

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DNA repair by homologous recombination is one of the main processes of DNA double strand breaks repair. In the present work we performed a case-control study (304 cases and 319 controls) to check an association between the genotypes of the c.-61 G > T and the g.38922 C > G polymorphisms of the RAD51 gene and the g.96267 A > C and the g.85394 A > G polymorphisms of the BLM gene and breast cancer occurrence. Genotypes were determined in DNA from peripheral blood by PCR-RLFP and by PCR-CTPP. We observed an association between breast cancer occurrence and the T/G genotype (OR 4.41) of the c.-61 G > T-RAD51 polymorphism, the A/A genotype (OR 1.69) of the g.85394 A > G-BLM polymorphism and the A/A genotype (OR 2.49) of the g.96267 A > C-BLM polymorphism. Moreover, we demonstrated a correlation between intra- and intergenes genotypes combinations and breast cancer occurrence. We found a correlation between progesterone receptor expression and the T/G genotype (OR 0.57) of the c.-61 G > T- RAD51 polymorphism. We also found a correlation between the T/G genotype (OR 1.86) and the T/T genotype (OR 0.56) of the c.-61 G > T- RAD51 polymorphism and the lymph node metastasis. We showed an association between the A/A genotype (OR 2.45) and the A/C genotype (OR 0.41) of the g.96267 A > C-BLM polymorphism and G3 grade of tumor. Our results suggest that the variability of the RAD51 and BLM genes may play a role in breast cancer occurrence. This role may be underlined by a common interaction between these genes.

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