Optimization og high resolution melting (HRM) method for genotyping and estimating the frequency of SNP rs3218035 on CCNE1 gene in Vietnamese breast cancer patients

Abstract

Breast cancer tends to be the most common cancer affecting women in over the world and the second leading cause of cancer-related deaths in women worldwide. Genetic factors could be considered as a potential factor for identifying breast cancer at the early stage where it is the most treatable. The presence of SNPs on the gene can affect gene expression, which may increase or decrease the risk of breast cancer. SNP rs3218035 located on the CCNE1 gene shown association with breast cancer in Chinese Han population. Besides, this SNP is observed in high polymorphism in the Vietnamese population based on 1000 genome database, so SNP rs3218035 may become the excellent candidate for the association study of breast cancer in Vietnam. Thus, the purpose of this project is developing an optimal HRM method for genotyping SNP rs3218035 and evaluating whether this SNP is a potential SNP for the association study of breast cancer in the Vietnamese population. In this study, 100 case samples were collected from Vietnamese breast cancer patients and would be compared with 101 healthy samples whose data was obtained from the 1000 genome database. As a result, the HRM method was developed with high sensitivity (up to 95%), stability and specificity. We have successfully identified frequencies of risk allele C was 87.89% while minor allele T was 12.11% so SNP rs3218035 is a high polymorphism in the Vietnamese population and there is a likely decreased risk of breast cancer among Vietnamese population when comparing C allele to T allele (OR=0.78, 95% CI: 0.43-1.42, p= 0.43). Consequently, this SNP is a potential biomarker for further association studies of breast cancer in Vietnam. Key words Breast cancer SNP rs3218035 CCNE1 gene High Resolution Melting (HRM)