Nucleic acid amplification-based HER2I655V molecular detection for breast cancer

Abstract

Single Nucleotide Polymorphism at codon 655 of HER2 gene has been extensively evaluated for its role as a susceptible biomarker for breast cancer development and the contradictive result of its role has been a debate among researchers as evidenced from case-control studies. Three platforms of molecular detection systems named PCR-RFLP, TaqMan assay, and AS-PCR have been used intensively in elucidating this important SNP with considering the affordability and simplicity of detection especially in research format which employs plenty of samples such as in the epidemiological study. Nevertheless, methodological related-bias generated from the association study between HER2I655V SNP and breast cancer risk becomes primary drawback that must be addressed seriously in an attempt to obtain a solid conclusion. This review will discuss the application of nucleic acid amplification-based methods for HER2I655V SNP detection, the potency of bias generated by these genotyping technologies, and strategies to improve their reliability of detection. Keywords: SNP, HER2I655V gene, Breast cancer, Genotyping methods, Genotyping errors