Annotation Detail

Information
Associated Genes
TP53
Associated Variants
TP53 DELETERIOUS MUTATION
TP53 DELETERIOUS MUTATION
Associated Disease
breast cancer
Source Database
CIViC Evidence
Description
In a study 202 breast cancer patients undergoing tamoxifen treatment, a higher frequency of wildtype TP53 patients responded to treatment compared to those with mutations in TP53 (66% wild-type vs. 31%, odds ratio (OR):0.22, 95CI:0.12-0.42, P<0.0001, univariate analysis; OR:0.29, 95% CI:0.12-0.42, P=0.0014, multivariate analysis). The median survival after start of therapy was shorter in patients with mutations in TP53 than for patients with wild-type TP53 (20mo vs. 29mo, HR:1.99,95% CI:1.43-2.75, P<0.001). Breast cancer patients with TP53 mutations also had a decrease in progression-free survival (HR:2.61, 95% CI:1.90-3.6, P<0.001).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2784
Gene URL
https://civic.genome.wustl.edu/links/genes/45
Variant URL
https://civic.genome.wustl.edu/links/variants/222
Rating
1
Evidence Type
Predictive
Disease
Breast Cancer
Evidence Direction
Supports
Drug
Tamoxifen
Evidence Level
C
Clinical Significance
Resistance
Pubmed
10786679
Drugs
Drug NameSensitivitySupported
TamoxifenResitance or Non-Reponsetrue