Annotation Detail
Information
- Associated Genes
- TP53
- Associated Variants
-
TP53 p.Pro47Ser (p.P47S)
(
ENST00000714357.1,
ENST00000610538.4,
ENST00000269305.9,
ENST00000610292.4,
ENST00000413465.6,
ENST00000714356.1,
ENST00000714409.1,
ENST00000359597.8,
ENST00000622645.4,
ENST00000420246.6,
ENST00000714408.1,
ENST00000576024.2,
ENST00000619485.4,
ENST00000620739.4,
ENST00000455263.6,
ENST00000445888.6,
ENST00000714359.1,
ENST00000604348.6 )
TP53 p.Pro47Ser (p.P47S) ( ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 ) - Associated Disease
- cancer
- Source Database
- CIViC Evidence
- Description
- The P47S (rs1800371) variant of TP53 is observed in 1.5% in African Americans and between 6% and 8% in certain African populations but has not been detected in Caucasian Americans. This paper reports functional studies of this variant. Mouse models with this variant show an increase in spontaneous tumor formation. 16 out of 20 (80%) of S47 homozygous mice developed cancer between 12 and 18 months of age. Cancers predominantly included hepatocellular carcinoma, B-cell lymphoma, and histiocytic sarcoma, as well as other tumor types. In S47/wild-type heterozygote mice an increased cancer incidence, with a predisposition for hepatocellular carcinoma, was also found. Mouse embryonic fibroblasts and human lymphoblastoid cell lines with S47 mutations were significantly less sensitive to cisplatinum treatment compared to TP53 wild-type cells (apoptosis and viability).
- Variant Origin
- Common Germline
- Variant Origin
- Common Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1209
- Gene URL
- https://civic.genome.wustl.edu/links/genes/45
- Variant URL
- https://civic.genome.wustl.edu/links/variants/504
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Cancer
- Evidence Direction
- Supports
- Drug
- Cisplatin
- Evidence Level
- E
- Clinical Significance
- Resistance
- Pubmed
- 27034505
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Cisplatin | Resitance or Non-Reponse | true |