Annotation Detail

Information
Associated Genes
TP53
Associated Variants
TP53 p.Tyr234Cys (p.Y234C) ( ENST00000455263.6, ENST00000604348.6, ENST00000445888.6, ENST00000359597.8, ENST00000504937.5, ENST00000510385.5, ENST00000504290.5, ENST00000576024.2, ENST00000269305.9, ENST00000413465.6, ENST00000420246.6, 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.Tyr234Cys (p.Y234C) ( 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
ovarian cancer
Source Database
CIViC Evidence
Description
Ovarian cancer patients with TP53 missense mutations were refractory to platinum-based chemotherapy (66% vs. 34% in wildtype, P=0.008) and had a shorter time to disease progression (n=54, P=0.037). A study of ovarian carcinoma patients (n=178) reported a reduced overall survival (HR:1.59, 95% CI:1.09-2.33, P=0.014) for patients with mutations in TP53.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2745
Gene URL
https://civic.genome.wustl.edu/links/genes/45
Variant URL
https://civic.genome.wustl.edu/links/variants/1068
Evidence Type
Predictive
Disease
Ovarian Cancer
Evidence Direction
Supports
Drug
Carboplatin,Cisplatin
Evidence Level
C
Clinical Significance
Resistance
Pubmed
11595686
Drugs
Drug NameSensitivitySupported
CarboplatinResitance or Non-Reponsetrue
CisplatinResitance or Non-Reponsetrue