Intermediate
Technical
IVT
copy number alteration
Genomic changes involving the gain or loss of DNA segments, affecting gene dosage and potentially driving cancer progression.
Full Definition
Copy number alterations (CNAs) represent structural genomic variations where segments of DNA are duplicated (amplification) or deleted, resulting in abnormal gene copy numbers. In precision oncology, CNAs are critical drivers of tumorigenesis and therapeutic targets. Gene amplifications can lead to oncogene overexpression, while deletions may result in tumor suppressor loss. Detection of specific CNAs guides treatment decisions, such as HER2 amplification predicting trastuzumab response in breast cancer.
Usage
Usage note: CNA and CNV are sometimes used interchangeably, though CNV traditionally refers to germline variations.
In Context
- "The tumor showed significant copy number alterations across multiple chromosomes." — Genomic analysis report
- "EGFR copy number alteration was detected in 12% of the lung adenocarcinoma cohort." — Clinical study publication
Also known as
CNA
copy number variation
CNV
Contrasted with
copy number neutral
Don't confuse with
chromosomal instability
aneuploidy