Abstract CN4-2: Genetic polymorphisms of ABC transporters in cancer chemotherapy: Development of SmartAmp2 method for clinical genetic testing

Pharmacogenomics data can facilitate our understanding of the sources of variability in drug response, which can potentially lead to improved safety and efficacy of chemotherapy for individual patients. Genetic polymorphisms of human ABC transporter genes are reportedly related to the risk of diseases or patients' responses to medication. However, a key requirement for the development of individualized medicine or personalized therapy is the ability to rapidly and conveniently test patients for genetic polymorphisms and/or mutations. For rapid genetic diagnosis, we have recently developed a rapid and cost-effective method named “SmartAmp2” that enables us to clinically test genotypes. Since ABCB1, ABCG2, ABCC4, and ABCC11 genes are known to be critically involved in cancer chemotherapy, we have examined whether the SmartAmp2 method could detect SNPs in those ABC transporter genes. In our study using clinical samples, the SmartAmp2 method has been proven to accurately detect and discriminate all possible homozygotes and heterozygotes of the SNPs we tested. Furthermore, we developed SmartAmp2 primers to detect mutations of K-RAS and EGFR genes in colon and lung cancers. Since the SmartAmp2 method enables us to detect genetic polymorphisms or mutations within 30 to 45 min under isothermal conditions without DNA isolation and PCR amplification, this method would provide a practical tool of genetic testing in cancer chemotherapy.

Citation Information: Clin Cancer Res 2010;16(7 Suppl):CN4-2