Objective   To investigate the correlation of single nucleotide polymorphisms (SNPs) in the PRRC2A gene with the susceptibility to sporadic breast cancer among Han women in Jiangsu Province, China.

  Methods   Using the genotyping technique of matrix-assisted laser desorption-ionization time-of-flight mass spectrometry, we analyzed the polymorphisms of an SNP (chr6_ 31697494) in gene PRRC2A in 214 breast cancer patients and 212 healthy controls admitted to the Huaian Maternal and Child Health Care Hospital. The genotype frequencies were analyzed using a Chi-square test between the case and control groups. Unconditional logistic regression analysis for calculating the odds ratio (OR) and 95% confidence interval (95% CI) was conducted by analyzing the correlation between the susceptibility to breast cancer and genotypes. Additional analysis was then performed based on the immunohistochemical results of the estrogen receptor (ER) and progesterone receptor (PR).

  Results  The genotype frequencies for chr6_31697494 between the case and control groups were not significantly different (P>0.05). Further analysis indicated that the genotype frequencies of the site were significantly different in the ER (+/-) groups or the PR (+/-) groups (P < 0.05). Heterozygous genotype (chr6_31697494, CT) was related to the breast cancers with ER (+) and PR (+) (OR=0.40, 95%CI: 0.33-0.47; OR=0.49, 95% CI: 0.43-0.57, respectively).

  Conclusion   No significant difference was found between the polymorphism of chr6_31697494 in the PRRC2A gene and the susceptibility to breast cancer among Han women in Jiangsu Province. The heterozygous genotypes were associated with breast cancer tissues with ER (+) and PR (+).