Table 1. Definition of genomic alterations.
Genomic alterations | Definition | Description | |
---|---|---|---|
SNP | Single-nucelotide polymorphism | Germiline | Inherited genetic variation in the DNA sequence that occurs when a single nucleotide is altered |
CNV | Copy number variant | Germline | Inherited alteration of DNA that results in an abnormal number of copies of one or more segments of DNA (1 kilobase or larger) |
SNV | Single-nucleotide variant | Somatic | Acquired genetic variation in the DNA sequence that occurs when a single nucleotide is altered (i.e., point mutation) |
CNA | Copy number aberration | Somatic | Acquired alteration of DNA that results in an abnormal number of copies of one or more segments of DNA (1 kilobase or larger) |