Annotation Detail

Information
Associated Genes
TP53
Associated Variants
TP53 p.Arg273Cys (p.R273C) ( ENST00000576024.2, ENST00000510385.5, ENST00000504937.5, ENST00000604348.6, ENST00000269305.9, ENST00000359597.8, ENST00000420246.6, ENST00000445888.6, ENST00000413465.6, 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, ENST00000714409.1 )
TP53 p.Arg273Cys (p.R273C) ( 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
stomach carcinoma
Source Database
CIViC Evidence
Description
A female patient taking part in a 25 patient gastric cancer trial was diagnosed at age 46, and received preoperative high dose chemotherapy (HDCT). Japanese Society for Gastric Cancer Response Score was 0. Resection was performed on patients with greater than 50% size reduction of the lesion. This patient did not undergo resection, and had on overall survival of 7.4 months.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2292
Gene URL
https://civic.genome.wustl.edu/links/genes/45
Variant URL
https://civic.genome.wustl.edu/links/variants/121
Rating
3
Evidence Type
Predictive
Disease
Stomach Carcinoma
Evidence Direction
Does Not Support
Drug
Cisplatin,Etoposide,Mitomycin
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
14514923
Drugs
Drug NameSensitivitySupported
MitomycinSensitivityfalse
EtoposideSensitivityfalse
CisplatinSensitivityfalse