BACKGROUND

A C/T transition - rs4987117 (the Thr1915Met polymorphism) and an A/G transition - rs11571653 (the Met784Val polymorphism) in the BRCA2 gene were linked to breast cancer risk in Polish and Japanese populations, respectively.

AIM

To study the association between polymorphisms of the BRCA2 gene and clinical parameters in breast cancer.

METHODS

Both polymorphisms were evaluated by RFLP - PCR in blood samples obtained from 117 women with sporadic breast cancer. Patients were stratified by genotype, Bloom - Richardson grade, TNM stage, estrogene and progesterone receptors (PR) status and the linkages of each genotype with each stratum were calculated by logistic regression.

RESULTS

Variant genotypes and alleles of both polymorphisms of the BRCA2 gene were inversely related to hormone receptor status for a group of patients with at least one positive receptor status as compared to a group with both receptors negative status (OR 0.27, 95% CI 0.07 - 0.95, p = 0.043 and OR 0.39, 95% CI 0.19 - 0.82, p = 0.013 for Met1915Met homozygote and 1915Met allele, respectively and OR 0.02, 95% CI 0.00 - 0.13, p = 0.0005 and OR 0.43, 95% CI 0.21 - 0.88, p = 0.021, for Val784Val homozygote and the 784Val allele. No association was found between both polymorphisms and Bloom - Richardson grading and TNM staging.

CONCLUSIONS

Our results suggest that variant genotypes of the Thr1915Met and Met784Val polymorphisms of the BRCA2 gene may be indicative factors in therapy of ductal breast cancer.