Annotation Detail

Information
Associated Genes
TP53
Associated Variants
TP53 p.Arg249Thr (p.R249T) ( ENST00000269305.9, ENST00000359597.8, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504290.5, ENST00000504937.5, ENST00000510385.5, ENST00000576024.2, ENST00000413465.6, 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 )
TP53 p.Arg249Thr (p.R249T) ( 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
Breast tumors with R175H or R249 mutations 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/399
Gene URL
https://civic.genome.wustl.edu/links/genes/45
Variant URL
https://civic.genome.wustl.edu/links/variants/119
Rating
3
Evidence Type
Predictive
Disease
Breast Cancer
Evidence Direction
Supports
Drug
Doxorubicin
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
9569050
Drugs
Drug NameSensitivitySupported
DoxorubicinSensitivitytrue