Annotation Detail
Information
- Associated Genes
- TP53
- Associated Variants
-
TP53 MUTATION
TP53 MUTATION - Associated Disease
- Li-fraumeni-like syndrome
- Source Database
- DisGeNET
- Description
- Targeted, massively parallel DNA sequencing and molecular inversion probe microarray analysis revealed a germline TP53 mutation compatible with Li-Fraumeni-like syndrome, somatic mutations of PIK3CA in the endometrial cancer, and a somatic mutation of GNA11 and JAK3 in the PMM.
- Pubmed
- 25588929
- Section of the abstract supporting the evidence
- CASE PRESENTATION
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 4
- Original source reporting the Gene Disease association
- BeFree,CLINVAR
- DisGENET score for the Gene Disease association
- 0.125700279313686
Drugs