Biomarkers
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Genes
BCR-ABL1
BRAF
EGFR
HER2
PML-RARα
Gene categories
BRCA
HR
Chromosomal regions
1p19q
17p
Alterations
SNV
Substitution
XREF SO:1000002
A sequence alteration where the length of the change in the variant is the same as that of the reference.
Structural variant
Copy number variation
Amplification
Deletion
Insertion
Expression
Overexpression
Underexpression
Normal expression
Rearrangement
Synonyms: fusion, translocation
Methylation
Hypermethylation
Hypomethylation
Positive
Negative
Germline
Somatic
Synonyms: tumor, acquired