Vol. 31, No. 4, 2009 (December)
	Content

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

R. Krupa¹, T. Sliwinski², Z. Morawiec³, E. Pawlowska⁴, M. Zadrozny⁵, J. Blasiak²

1. Laboratory of DNA Repair, Department of Molecular Genetics, University of Lodz, Lodz 90-237, Poland 2. Department of Molecular Genetics, University of Lodz, Lodz 90-237, Poland 3. N. Copernicus Hospital, Lodz 93-510, Poland 4. Department of Pediatric Dentistry, Medical University of Lodz, Lodz 92-216, Poland 5. Polish Mother̓s Memorial Hospital, Lodz 93-338, Poland

Abstract. 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.

Key Words: breast cancer, BRCA2, DNA repair, gene polymorphism

Language:

[full text]