Difference between revisions of "Biomarkers"
Jump to navigation
Jump to search
(→SNV) |
m (→Germline) |
||
| Line 54: | Line 54: | ||
==Negative== | ==Negative== | ||
| + | |||
| + | =Functional mutations= | ||
| + | ==Gain-of-function== | ||
| + | Synonyms: GOF | ||
| + | ===Activating=== | ||
| + | ==Loss-of-function== | ||
| + | Synonyms: LOF | ||
| + | ===Inactivating=== | ||
=Germline= | =Germline= | ||
| + | |||
=Somatic= | =Somatic= | ||
Synonyms: tumor, acquired | Synonyms: tumor, acquired | ||
Revision as of 23:31, 8 January 2020
Genes
BCR-ABL1
BRAF
EGFR
HER2
PML-RARα
Gene categories
BRCA
HR
Chromosomal regions
1p19q
15;17
17p
Alterations
SNV
XREF SO:0001483
SNVs are single nucleotide positions in genomic DNA at which different sequence alternatives exist.
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
XREF SO:0001537
A sequence variant that changes one or more sequence features.
Copy number variation
Amplification
Deletion
Insertion
Expression
Overexpression
Underexpression
Normal expression
Rearrangement
Synonyms: fusion, translocation
Methylation
Hypermethylation
Hypomethylation
Positive
Negative
Functional mutations
Gain-of-function
Synonyms: GOF
Activating
Loss-of-function
Synonyms: LOF
Inactivating
Germline
Somatic
Synonyms: tumor, acquired