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

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

Wild-type