Annotation Detail
Information
- Associated Genes
- TP53
- Associated Variants
-
TP53 p.Arg248Trp (p.R248W)
(
ENST00000576024.2,
ENST00000510385.5,
ENST00000269305.9,
ENST00000604348.6,
ENST00000504937.5,
ENST00000359597.8,
ENST00000714409.1,
ENST00000413465.6,
ENST00000420246.6,
ENST00000445888.6,
ENST00000455263.6,
ENST00000504290.5,
ENST00000610292.4,
ENST00000610538.4,
ENST00000610623.4,
ENST00000618944.4,
ENST00000619186.4,
ENST00000619485.4,
ENST00000620739.4,
ENST00000622645.4,
ENST00000714356.1,
ENST00000714357.1,
ENST00000714359.1,
ENST00000714408.1 )
TP53 p.Arg248Trp (p.R248W) ( ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504290.5, ENST00000504937.5, ENST00000510385.5, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 ) - Associated Disease
- breast cancer
- Source Database
- CIViC Evidence
- Description
- In breast cancer patients harboring R248W mutation, the prognosis is worse than any other hotspot TP53 mutation, as well as worse than patients with wild type TP53.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/392
- Gene URL
- https://civic.genome.wustl.edu/links/genes/45
- Variant URL
- https://civic.genome.wustl.edu/links/variants/118
- Rating
- 3
- Evidence Type
- Prognostic
- Disease
- Breast Cancer
- Evidence Direction
- Supports
- Evidence Level
- B
- Clinical Significance
- Poor Outcome
- Pubmed
- 16489069
Drugs