Relationship between CHEK2 mutation and the risk of breast cancer

Abstract

Objective To study the relationship between the single nucleotide polymorphism in the promoter of the cell-cycle-checkpoint kinase 2(CHEK2)gene and the susceptibility of breast cancer in female population. Methods A case-control study was conducted. The distribution of polymorphisms rs17878974 and rs17883911 in CHEK2 gene were analyzed using allele specific amplification(ASA)and agarose gel electrophoresis in 200 patients with breast cancer and 200 samples of normal controls. Results No significant difference was found in the genotypes(C/C, C/T and T/T) at rs17878974 between the breast cancer group and the control group(χ2=0.041, P=0.839), and there was no significant difference in the T and C gene frequency between the two groups(χ2=0.377, P=0.539). There was significant difference in the genotypes(A/A, A/G and G/G) at rs17883911 between the breast cancer group and the control group(χ2=21.122, P<0.001), there was significant difference in the G and A gene frequency between the breast cancer group and the control group (χ2=13.115, P<0.001, OR=1.804, 95%CI: 1.308-2.488). Conclusions The single nucleotide polymorphism of CHEK2 gene at rs17878974 position is unlikely to be associated with susceptibility of breast cancer in women. But the single nucleotide polymorphism of CHEK2 gene at rs17878974 position is probably correlated with the incidence of breast cancer in women. Key words: Breast cancer; Cell-cycle-checkpoint kinase 2; Single nucleotide polymorphism; Alleles