Association between polymorphisms of the BRCA2 gene and clinical parameters in breast cancer

Krupa R., Sliwinski T., Morawiec Z., Pawlowska E., Zadrozny M., Blasiak J.

Summary. 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.

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