Copy Number Variations in Tumors

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Abstract

Copy number variation (CNV) is one of the major forms of genetic alterations in cancer. It can affect the gene expression levels through dosage effects. Since CNV is much stable than gene expression, it can be a more robust and better biomarker than gene expression signatures, which can be easily disturbed. There have been many ways to detect the CNVs based on whole genome sequencing (WGS) or targeted sequencing. Several studies have shown that the CNV patterns across cancer types were very different and demonstrated that CNV can be a good biomarker for cancer diagnosis and subtyping.

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