Copy number variations (CNV) are large, structurally variant regions of DNA that contribute substantially to genetic diversity. Until recently, the majority of genomic studies in cancer have focused on the single-nucleotide polymorphisms associated with different forms of the disease. Technological progress in the form of high-resolution SNP arrays, however, has allowed the identification of increasing numbers of CNVs and the association of these components of genetic variation with different forms of cancer has become apparent.
As Dr Adam Shlien and Dr David Malkin discuss in this Review, the importance of understanding the complex structural dynamics of CNVs, both in constitutional and somatic mutations, and their association with cancer, is evident. The authors analyze the research in this field to date, and highlight the possibility of exciting developments for the future.
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