title: Methods for detection of subtle mutations in cancer genomes.
abstract: 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.
authors.affiliation: Institute of Cancer Biology, Danish Cancer Society, Copenhagen, Denmark.
authors.forename: Christina
authors.initials: C
authors.lastname: Dahl
authors.forename: Ulrik
authors.initials: U
authors.lastname: Ralfkiaer
authors.forename: Per
authors.initials: P
authors.lastname: Guldberg
mesh_terms: D016172:DNA Fingerprinting; D004252:DNA Mutational Analysis / Q000379:methods*; D016678:Genome; D020180:Heteroduplex Analysis; D009369:Neoplasms / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA