ER and PR Positive, or Her2 Negative Tumor of rs2363956 and rs3803662 GWAS in Breast Cancer

Abstract

Background: Breast cancer is the most frequent cause of death in cancer for woman. Numerous SNPs linked to breast cancer have been identified in genome-wide association studies (GWAS). They have revealed novel genetic markers for breast cancer susceptibility. There has not been any work on molecular events and breast cancer risk factors in Iran. Large-scale association studies have identified that rs2363956 from ANKLE1 (ankyrin repeat and LEM domain containing 1 gene) and rs3803662 of CASC16 (cancer susceptibility 16) genes associated with the risk of breast cancer are found to be the main markers in breast cancer. We would like to explore the association of 2 SNPs rs2363956 and rs3803662 regarding the risk of breast cancer in Iranian women. Methods: First, we evaluated 126 breast cancer and 160 control women with peripheral blood for the DNA extracted using the genotyping Tetra-Primer ARMS –PCR technique also Immunohistochemical test of HER2- , HER2+, ER-, ER+, PR- , and PR+ upon breast tumor tissue patients. Results: In the current study, ANKLE1 (rs2363956) GG polymorphisms were found to have been significantly associated with breast cancer (26.190, frequency, Odd Ratio; 0.313, CI; 0.166-0.593, P value; 0.00025***). Conclusions: However, it has been shown that there exists significant association between the low allele in ANKLE1 (rs2363956) GT to ER and PR negative tumor by the Immunohistochemi- pathology method.