1 3 Cancer Chemother Pharmacol DOI 10.1007/s00280-015-2729-4 SHORT COMMUNICATION Validation of a fast and low-cost alkaline lysis method for gDNA extraction in a pharmacogenetic context Ruth Ramos-Díaz 1 · Fernando Gutiérrez-Nicolás 1 · Gloria J Nazco-Casariego 1 · Itamar González-Perera 1 · José A Pérez-Pérez 2 Received: 23 January 2015 / Accepted: 16 March 2015 © Springer-Verlag Berlin Heidelberg 2015 Introduction The importance of human genetic variability on drug effi- cacy and safety has been highlighted in the last years [1]. This progress on pharmacogenetic knowledge, together with genotyping assays becoming cheaper, has enabled the potential incorporation of all this innovation into daily clin- ical practice [2]. One of the short-term challenges faced by personalized medicine is ensuring that genetic analysis, and more specifically pharmacogenetics, forms part of services portfolio in most hospitals, providing valuable information to the clinical practitioner for selecting the most appropri- ated drug therapy for patients [3]. The first step towards determining a patient’s genotype is to obtain genomic DNA (gDNA) from a biological sample, whose source will depend on the kind of genetic variation under study: for the analysis of somatic muta- tions associated with cancer, the starting sample must contain tumour cells, which normally requires perform- ing a tumour biopsy [4]. However, when the goal is to identify germline mutations, a simple peripheral blood test is sufficient. In this latter case, the use of dried blood samples (DBS) is increasingly common, not only because of its simple handling and transport, but also because of the possibility of storage for several years. Several pro- cedures for extraction of gDNA, from DBS, have been published. Among them, a method based on alkaline lysis reported by Rudbeck and Dissing [5] is especially attractive because of its simplicity, speed and low cost. Nevertheless, its use has not been generalized in clinical laboratories. In this work, we have assessed the suitabil- ity of the gDNA obtained with this method in the con- text of pharmacogenetic analysis by evaluating its ability to meet the quality requirements of different genotyping techniques. Abstract Purpose Translation of pharmacogenetic findings from the research laboratory to the clinical practice demands simple and efficient procedures. In this sense, we evaluated the suitability of a modified protocol for genomic DNA extraction based on alkaline lysis of cells. Methods Dried blood samples were obtained from 48 patients diagnosed with colorectal cancer. A total of 11 mutations in the dihydropyrimidine dehydrogenase gene and related to 5-fluorouracil toxicity were searched by amplicon sequencing and real-time PCR with fluorescent probes. Results Genomic DNA extracted with the alkaline lysis method, both from dried blood samples and buccal swabs, fulfilled the quality requirements of the two genotyp- ing methods assayed, which yielded 100 % concordant results for 11 genetic variants with relevance to cancer chemotherapy. Conclusions The assessed protocol has shown to be a very fast and economical approach to perform genetic analyses in the clinical laboratory for pharmacological purposes. Keywords DNA extraction · Dried blood samples · Buccal swabs · Pharmacogenetics * Fernando Gutiérrez-Nicolás fgunico@gmail.com 1 Pharmacy Department, University Hospital of the Canary Islands (HUC), Tenerife, Spain 2 Biochemistry, Microbiology, Cell Biology and Genetics Department, University Institute of Tropical Diseases and Public Health of the Canary Islands (IUETSPC), University of La Laguna, Tenerife, Spain