Genomic Precision

 A SeraCare blog focused on precision medicine and advanced clinical diagnostics

CNVs and Tumor Profiling: New CNV Materials for Breast, Lung, and Brain Cancer

Posted by Dana Ruminski Lowe, Ph.D. on Feb 14, 2018 4:00:00 PM

Simply described, copy number variations (CNVs) are DNA segments present at a variable copy number in comparison to a normal genome. It was originally thought that a CNV consisted of a region of greater than 1 kilobases, however advances in technology have allowed for identification of CNVs as small as 50 basepairs1. CNVs are common, affecting a greater fraction of the human genome than single nucleotide polymorphisms (SNPs). CNVs tend to be found in segmental duplications, heterochromatic DNA, replication origins, and palindromic regions2. They can originate in the germline or accumulate as somatic variants, as a result of several proposed mechanisms. Although some genes can be deleted or amplified with no phenotypic consequence, there are examples of CNVs that play important functions in normal biological pathways, such as the amplification of ribosomal genes during early embryogenesis to increase production of ribosomes2. Alternatively, many CNVs are pathogenic and can cause disease, such as diabetes, autism spectrum disorder, Alzheimer’s disease, and cancer.

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Topics: biosynthetic reference materials, Clinical NGS Assays, Copy Number Variations (CNVs), Lung Cancer, Brain Cancer, Breast Cancer, tumor profiling


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