ANALYSIS OF RAD51 POLYMORPHISM AND BRCA1 MUTATIONS IN POLISH WOMEN WITH BREAST CANCER

Romanowicz-Makowska H., Smolarz B., Zadrozny M., Kulig A.

Summary. Aim: Breast cancer is one of the major killers worldwide. The objectives of this study were to determine the frequency of BRCA1 germ-line mutations and the RAD51 G/C polymorphism in patients with breast cancer. Methods: 100 breast cancer women provided blood for mutation analysis. Blood samples age matched healthy individuals (n = 106) served as control. The G/C polymorphism and BRCA1 mutations were determined by PCR-RFLP methods. Results: The distribution of the genotypes of the G/C polymorphism RAD51 in both control and patients did not differ significantly from those predicted by the Hardy — Weinberg distribution. There were no significant differences in the genotype distributions and allele frequencies between node-positive and node-negative patients. In present study one Ex20insC mutations of BRCA1 gene was identified in women with breast cancer. Conclusion: Our study implies that the G/C polymorphism of the RAD51 gene may not be directly involved in the development and/or progression of breast cancer.

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