Critical Reviews™ in Oncogenesis

ISSN for PRINT: 0893-9675

For Online Access

Best Paper Award Selection - Editorial Board Site

2006, Volume12

Christina Dahl
Institute of Cancer Biology, Danish Cancer Society, Copenhagen, Denmark

Ulrik Ralfkiaer
Institute of Cancer Biology, Danish Cancer Society, Copenhagen, Denmark

Per Guldberg
Institute of Cancer Biology, Danish Cancer Society, Copenhagen, Denmark

With the realization that cancer is a genetic disease, detection of mutations in genomic DNA has become an important discipline in many areas of cancer research. Although the publication of the human genome sequence and the immense technological advancements have facilitated the analysis of cancer genomes, detection of mutations in tumor specimens may still be challenging and fraught with technical problems. In this review, we describe current technologies for detection of small DNA mutations, including mutation scanning techniques to search for unknown mutations, and diagnostic techniques to detect known cancer mutations. We outline the principles of the different techniques and discuss their advantages and limitations. We also discuss critical issues that must be considered before choosing methodology, including sensitivity, specificity, limit of detection, throughput and cost, quantity and quality of template DNA, available equipment, and personnel expertise.

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