Abstract
Objective: To define the association of TNRC9 rs3803662 and LOC643714 rs12922061 with risk of breast cancer in Egyptian females and to correlate them with clinico-pathological features and survival in patients.
Background: Breast cancer is a complex polygenic disease in which genetic factors play a role in its etiology and pathologic process. The TNRC9/ LOC643714 locus on chromosome 16q12 was one among the chief breast cancer regions known through genome-wide association study.
Subjects and methods: This study included seventy-five subjects (fifty breast cancer patients and twenty-five healthy controls). ELISA-based assay of tumor markers (CEA and CA15-3) and genotyping of TNRC9 rs3803662 and LOC643714 rs12922061 by real time-PCR were applied.
Results: Significant higher frequencies of the LOC643714 rs12922061 CT genotype and T allele were observed in breast cancer patients (p = 0.016, OR (95%CI); 4.114 (1.30-13.0) and (p = 0.044, OR (95%CI); 2.347(1.02-5.39) respectively. This significant difference was also observed under a dominant model (CC vs CT + TT OR 3.551; 95%CI 1.26-10.02; p = 0.017) and Over-dominant model (CT vs CC + TT OR 3.692; 95%CI:1.19-11.39; p = 0.023). Regards rs12922061 genotype distribution, there was significant difference regards menopausal state under the dominant model (p = 0.044) and there was significant difference as regards nodal stage under both the dominant model (p = 0.049) and over dominant model (p = 0.028). No remarkable association was found between the rs3803662 polymorphism and breast cancer patients. There was no noteworthy relationship between overall survival in breast cancer patients and the genotype distribution of both SNPs LOC643714 (rs12922061) and TNRC9 (rs3803662).
Conclusion: While there was no important association regarding the TNRC9 rs3803662, our study found that rs12922061 of LOC643714 was related to breast cancer risk. Moreover, the rs12922061 is related to the menopausal state and nodal stage.