Polymorphisms in the TOX3/LOC643714 and risk of breast cancer in south China

Breast cancer is the most widespread cancer in women, with a high mortality rate. This study aims to assess the association between single nucleotide polymorphisms (SNPs) of LOC643714 (rs12922061) and TOX3 (rs3803662) and breast cancer, as well as the clinical characteristics of tumors.

In total, 104 breast cancer patients and 118 healthy controls were recruited to our study. The genotyping was performed by the SNP scan method. General characteristics, the clinical characteristics of tumors and reproductive factors were included in the analysis. Statistical tests included the Student t-test, the Chi-square test (X²) or Fisher's exact test, and unconditional logistic regression analysis. The receiver operating characteristic curves were used to evaluate the predictive role of rs12922061 in breast cancer.

The LOC643714 polymorphism was a risk factor for breast cancer under a dominant model (TT+TC vs. CC: OR 1.801; 95% CI 1.048, 3.095; statistical power=60%), recessive model (TT vs. TC + CC: OR 4.297; 95% CI 1.164, 15.867; statistical power=64%) and log-additive (TT vs. CC: OR 5.163; 95% CI 1.368, 19.485; statistical power= 73%). Furthermore, the rs12922061 polymorphism was associated with menopause status in patients ( P=0.005). No statistically significant association was found between the rs3803662 polymorphism and breast cancer in patients or healthy controls.

Our study found that rs12922061 of LOC643714 was related to breast cancer risk. With a limited sample size and statistical power, further multi-center studies are needed to confirm the influence of the LOC643714 polymorphisms on breast cancer based on larger populations.