Annotation Detail
Information
- Associated Genes
- TP53
- Associated Variants
-
TP53 p.Pro72Arg (p.P72R)
(
ENST00000359597.8,
ENST00000413465.6,
ENST00000604348.6,
ENST00000269305.9,
ENST00000455263.6,
ENST00000420246.6,
ENST00000445888.6,
ENST00000576024.2,
ENST00000610292.4,
ENST00000610538.4,
ENST00000619485.4,
ENST00000620739.4,
ENST00000622645.4,
ENST00000714356.1,
ENST00000714357.1,
ENST00000714359.1,
ENST00000714408.1,
ENST00000714409.1 )
TP53 p.Pro72Arg (p.P72R) ( 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
- lung carcinoma
- Source Database
- CIViC Evidence
- Description
- Pooled data from 13 studies of patients with lung cancer found little effect of codon 72 allele on the overall survival of patients with lung cancer. Proline homozygous patients were correlated with slightly poorer outcome, odds ratio 1.18 with a 95% confidence interval of 0.99-1.41. Heterozygotes had an OR of 1.02 (95% CI 0.86-1.20). Authors conclude that the effect of these alleles on prognosis in lung cancer is inconclusive at best.
- Variant Origin
- Common Germline
- Variant Origin
- Common Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1303
- Gene URL
- https://civic.genome.wustl.edu/links/genes/45
- Variant URL
- https://civic.genome.wustl.edu/links/variants/531
- Rating
- 3
- Evidence Type
- Prognostic
- Disease
- Lung Carcinoma
- Evidence Direction
- Does Not Support
- Evidence Level
- B
- Clinical Significance
- Poor Outcome
- Pubmed
- 12840112
Drugs