Annotation Detail

Information
Associated Genes
TP53
Associated Variants
TP53 p.Arg273His (p.R273H) ( ENST00000510385.5, ENST00000576024.2, ENST00000604348.6, ENST00000714357.1, ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504290.5, ENST00000504937.5, ENST00000714359.1, ENST00000610292.4, ENST00000610538.4, ENST00000714409.1, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000714408.1, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1 )
TP53 p.Arg273His (p.R273H) ( ENST00000445888.6, ENST00000455263.6, ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, 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
Breast cancer patients who harbor R273H mutation have worse overall survival than those with wild type TP53, but have better prognosis than those with R248W mutation.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/397
Gene URL
https://civic.genome.wustl.edu/links/genes/45
Variant URL
https://civic.genome.wustl.edu/links/variants/122
Rating
3
Evidence Type
Prognostic
Disease
Breast Cancer
Evidence Direction
Supports
Evidence Level
B
Clinical Significance
Poor Outcome
Pubmed
16489069
Drugs