Annotation Detail
Information
- Associated Genes
- TP53
- Associated Variants
-
TP53 MUTATION
TP53 MUTATION - Associated Disease
- retinoblastoma
- Source Database
- DisGeNET
- Description
- It is unique among the epithelial carcinomas as two distinct pathways to tumourigenesis appear to exist: low grade, recurring papillary tumours usually contain oncogenic mutations in FGFR3 or HRAS whereas high grade, muscle invasive tumours with metastatic potential generally have defects in the pathways controlled by the tumour suppressors p53 and retinoblastoma.
- Pubmed
- 26274747
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree,LHGDN
- DisGENET score for the Gene Disease association
- 0.0605514005172359
Drugs