From: Organizing knowledge to enable personalization of medicine in cancer
Event type | Description | Example |
---|---|---|
Single nucleotide variant (SNV) | Single nucleotide alterations | BRAF c.1799 T > A (V600E) |
Small insertion or deletion (Indel) | Small numbers of nucleotides deleted or inserted | PTEN c.800delA (K267fs*9) |
Copy number variation (CNV) | Large-scale (for example, chromosomal) or focal changes in copy-number status such as amplifications and deletions | ERBB2 amplification |
Structural variation (SV) | Large-scale (for example, chromosomal) rearrangements such as translocations or inversions | FLT3 internal tandem duplication |
Chimeric transcript | Aberrant expression of messenger RNA involving distant intra- or inter-chromosomal gene pairs | BCR-ABL fusion |
Epigenetic modification | Alterations at the epigenetic level such as DNA methylation or histone modifications | TERT promoter hypermethylation |
Expression biomarker | Significantly increased or decreased expression of RNA or protein | High SPARC expression |