Annotation Detail

Information
Associated Genes
TP53
Associated Variants
TP53 p.Arg175His (p.R175H) ( ENST00000510385.5, ENST00000504937.5, ENST00000604348.6, ENST00000576024.2, ENST00000445888.6, ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000455263.6, ENST00000420246.6, ENST00000504290.5, ENST00000714357.1, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 p.Arg175His (p.R175H) ( ENST00000359597.8, ENST00000269305.9, 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
Breast tumors in a mouse model with R172H mutation (homologous to human R175H) are more responsive to doxorubicin than breast tumors with wild type TP53.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/319
Gene URL
https://civic.genome.wustl.edu/links/genes/45
Variant URL
https://civic.genome.wustl.edu/links/variants/116
Rating
3
Evidence Type
Predictive
Disease
Breast Cancer
Evidence Direction
Supports
Drug
Doxorubicin
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
22698404
Drugs
Drug NameSensitivitySupported
DoxorubicinSensitivitytrue