Abstract P4-04-11: Correlation study of gene polymorphisms on 19p13.1 with triple negative breast cancer

Abstract

Abstract Objective:The aim of this study was to investigate the association between triple negative breast cancer (TNBC) susceptibility and single nucleotide polymorphisms (SNPs) of MERIT40(c19orf62)and ANKLE1 genes located in 19p13.1, so as to find the clinical helpful molecular markers and therapeutic targets to the early detection and to guide individualized treatment. Materials and Methods:Totally 252 patients with breast cancer diagnosed and treated in Breast Surgery Department of China-Japan Union Hospital affiliated to Jilin University were taken into the study, Among them,there were 124 cases identified as TNBC by using IHC technique, and others there were 128 cases as non-TNBC. Using common PCR assay and DNA sequencing to detect the SNPs of candidate genes. Finally, the association was analyzed between triple negative breast cancer group and non-triple negative breast cancer group with incidence and impact factors. Results:Three genotypes were detected in rs8170,a SNP of MERIT40 gene located in 19p13.1.The frequencies of CC, CT and TT genotype in the triple negative breast cancer group and non-triple negative breast cancer group were 52.9% vs 93.5%, 41.2% vs 6.5% and 5.9% vs 0.0%.The difference of the distribution of genotypes between two groups was statistically significant (P = 0.004).Three genotypes were detected in rs2363956,a SNP of ANKLE1 gene also located in 19p13.1. The frequencies of TT, GT and GG genotype in the triple negative breast cancer group and non-triple negative breast cancer group were 35.7% vs 38.5%, 42.9% vs 53.8%and 21.4%vs7.7%.The difference of the distribution of genotypes between tow groups was no significant correlation (P = 0.464).Rs2363956 genotypes had obvious correlation with clinical stage (P = 0.005) and lymph node metastasis (P = 0.029) in non-triple negative breast cancer group, but not in triple negative breast cancer group(P = 0.323, P = 0.510).Neither rs8170 nor rs2363956 genotypes had obvious correlation with breast cancer-related immune group, such as EGFR,P53(P>0.05). Logistic regression analysis showed that TT genotype of rs8170 would increase the risk of in TNBC patients (OR = 1.426,95% CI = 1.266-2.872 P = 0.024).There was no significant association between the risk of incidence and the SNPs of ANKLE1 genes. Multivariate Logistic regression analysis showed that the polymorphism of ANKLE1 rs2363956 was an independent prognostic factor with lymph node metastasis and high clinical installments in for non-triple negative breast cancer (OR = 1.228, 95%CI = 1. 104-1.908 P = 0.045), but not for triple negative breast cancer. Conclusions :The rate of incidence is comparatively higher in TNBC patients with TT genotype of MERIT40 rs8170, which may be an important molecular markers to predict the incidence of triple negative breast cancer. Citation Information: Cancer Res 2013;73(24 Suppl): Abstract nr P4-04-11.