Annotation Detail
Information
- Associated Genes
- TP53
- Associated Variants
-
TP53 MUTATION
TP53 MUTATION - Associated Disease
- FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
- Source Database
- DisGeNET
- Description
- Forty-two deleterious germline mutations were identified in 21 genes of 34 patients, including 18 (18.2%) BRCA1 or BRCA2 mutations, 3 (3%) TP53 mutations, 5 (5.1%) DNA mismatch repair gene mutations, 1 (1%) CDH1 mutation, 6 (6.1%) Fanconi anemia pathway gene mutations, and 9 (9.1%) mutations in other genes.
- Pubmed
- 25927356
- 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
- 4
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00380018620912425
Drugs