Association of SNP Rs34678647 with breast cancer risk in the Vietnamese population: An initial study

Abstract

Breast cancer remains a leading cause of mortality among women worldwide. In Vietnam, the rising incidence underscores the urgent need for early diagnostic markers. Genetic factors, particularly Single Nucleotide Polymorphisms (SNPs), play a critical role in breast cancer susceptibility. The SNP rs34678647, located downstream of the miR-221/222 cluster targeting Estrogen Receptor alpha (ERα), is hypothesized to influence breast cancer risk by modulating cancer-related pathways. This study investigates the association between rs34678647 and breast cancer risk in the Vietnamese population. A total of 234 DNA samples, comprising 131 breast cancer cases and 103 healthy controls, were genotyped using the Polymerase Chain Reaction-High Resolution Melting (PCR-HRM) technique, which is selected for its high sensitivity and specificity in SNP detection. Genotype frequencies were determined, and statistical analyses were conducted to evaluate associations. The PCR-HRM method successfully genotyped rs34678647 with high accuracy. The T allele was observed in 23% of cases and 19% of controls; however, no significant association with breast cancer risk was identified (OR = 1.19, 95% CI: 0.77-1.85, p = 0.43). Genotype distributions conformed to the Hardy-Weinberg equilibrium in both groups, supporting the representativeness of the sample. In conclusion, while the T allele of rs34678647 showed a nonsignificant trend toward increased breast cancer risk among Vietnamese women, the results were not statistically conclusive. These findings highlight the need for larger-scale studies to further explore the potential role of rs34678647 as a genetic risk factor and its applicability as an early diagnostic biomarker.